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
BRPF3	27154	broad.mit.edu	37	6	36169144	36169144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:36169144C>T	uc003olv.4	+	1	1269	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	BRPF3_uc010jwb.3_Missense_Mutation_p.H349Y|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.H349Y	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	349					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACAGCATTCCATGTGACATG	0.537000														24			16		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3007670	3007670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3007670G>A	uc022brz.1	+	6	1100	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ARSF_uc004cre.2_Missense_Mutation_p.V322M|ARSF_uc004crf.2_Missense_Mutation_p.V322M	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	322						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACTCCATGGTGGGTAAGTC	0.488000														10			19		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87917311	87917311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:87917311G>A	uc003ydy.2	+	2	209	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	54										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTTTAAGCCGGAGTATGAGC	0.323000														9			8		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291018	33291018	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:33291018C>T	uc001wrq.3	+	12	4169	c.3999C>T	c.(3997-3999)acC>acT	p.T1333T		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1333					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTCATCTACCAAATCTTTGC	0.428000														20			9		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585212	61585212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61585212G>A	uc010xev.2	+	3	338	c.248G>A	c.(247-249)aGc>aAc	p.S83N	SERPINB2_uc010xew.2_Missense_Mutation_p.S83N	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	98					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.M82I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTCAACTTGAGCAACTCGGAA	0.338000														16			21		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20796893	20796893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:20796893C>T	uc001und.4	-	2	1114	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	GJB6_uc001umz.4_Missense_Mutation_p.E243K|GJB6_uc001unb.4_Missense_Mutation_p.E243K|GJB6_uc001unc.4_Missense_Mutation_p.E243K|GJB6_uc001una.4_Missense_Mutation_p.E243K|GJB6_uc021rhb.1_Missense_Mutation_p.E243K	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	243					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCATTCATTTCATTCTGCTTA	0.413000														97			86		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6941017	6941017	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:6941017T>C	uc001qra.1	+	6	1182	c.1148T>C	c.(1147-1149)cTg>cCg	p.L383P	GPR162_uc001qrb.1_Missense_Mutation_p.L191P	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	470						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CTCCGATCCCTGGGGGAGAAG	0.612000														11			4		0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109526963	109526963	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:109526963C>T	uc010fjn.3	-	8	1399	c.852G>A	c.(850-852)aaG>aaA	p.K284K	EDAR_uc010yws.2_Silent_p.K284K|EDAR_uc002teq.4_Silent_p.K252K	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	252					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CAAATTCATCCTTCTCGGAGA	0.552000														15			8		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590581	101590581	+	Silent	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:101590581T>A	uc001kqf.2	+	20	2995	c.2856T>A	c.(2854-2856)atT>atA	p.I952I		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	952						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)	AAAAACTAATTAAGAAGGAAT	0.388000														34			22		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17541254	17541254	+	Silent	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:17541254C>A	uc003ncb.3	+	8	1120	c.877C>A	c.(877-879)Cgg>Agg	p.R293R	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.R267R|CAP2_uc011djb.2_Silent_p.R229R|CAP2_uc011djc.2_Silent_p.R181R|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	293					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCCCAGCCTGCGGGCTCAAGG	0.468000														195			130		6.59513e-52	6.69185e-52	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20493457	20493457	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:20493457C>T	uc003gpr.1	+	8	1053	c.849C>T	c.(847-849)atC>atT	p.I283I	SLIT2_uc003gps.1_Silent_p.I283I	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	283	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAACAATATCGTAGACTGTC	0.433000														103			31		0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048520	22048520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:22048520G>A	uc001irc.3	-	10	1462	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	392					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTGAACTGTCGATTTGAGTTC	0.562000														42			25		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377895	125377895	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125377895G>A	uc011lyy.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ACAGCCTGAGGAATGGGGATG	0.473000														48			19		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22770718	22770718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:22770718G>A	uc009yie.3	+	5	832	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	GAS2_uc001mqm.3_Missense_Mutation_p.E176K|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.E176K	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	176					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GATTGAACAAGAAGAAACACT	0.378000														16			17		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24498562	24498562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:24498562G>A	uc003jgr.2	-	8	1966	c.1460C>T	c.(1459-1461)cCa>cTa	p.P487L	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	487	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCAAACTGTGGGGCATTGTC	0.403000										HNSCC(23;0.051)				66			30		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10941911	10941911	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:10941911G>A	uc002yip.1	-	13	1160	c.792C>T	c.(790-792)atC>atT	p.I264I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.I246I|TPTE_uc002yir.1_Silent_p.I226I|TPTE_uc010gkv.1_Silent_p.I126I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	264	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCTTACCTTGATTGGATTTC	0.313000														98			37		0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135160691	135160691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:135160691C>T	uc002ttw.4	+	10	1658	c.1513C>T	c.(1513-1515)Ctt>Ttt	p.L505F		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	505					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCTGCAGTTCCTTCTTCGAGA	0.428000														17			11		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568110	92568110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:92568110C>T	uc001doo.3	+	2	695	c.428C>T	c.(427-429)tCa>tTa	p.S143L	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	143						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATTGGGATATCACAAAAGCAA	0.308000														23			38		0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116732026	116732026	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:116732026C>T	uc001lcd.3	+	5	790	c.729C>T	c.(727-729)ttC>ttT	p.F243F	TRUB1_uc010qsl.2_Silent_p.F145F|U6_uc021pzh.1_5'Flank	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	243					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CACCATTTTTCACATTAGGTA	0.358000														53			18		0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45987079	45987079	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:45987079G>A	uc001ncc.4	-	8	1404	c.780C>T	c.(778-780)atC>atT	p.I260I	PHF21A_uc001ncb.4_Silent_p.I261I|PHF21A_uc009ykx.3_Silent_p.I261I|PHF21A_uc001nce.2_Silent_p.I261I|PHF21A_uc001nca.1_5'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	260					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CGGGCCTCTGGATAAGCTGAG	0.562000											OREG0020936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			20		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563743	176563743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176563743G>A	uc001gkz.3	+	2	2167	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	PAPPA2_uc001gky.1_Missense_Mutation_p.D335N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	335					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGAAAGCGGGATGCTCGCTT	0.562000														43			15		0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122744078	122744078	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:122744078A>T	uc003pyu.2	+	8	1233	c.1046A>T	c.(1045-1047)aAt>aTt	p.N349I	HSF2_uc003pyv.2_Missense_Mutation_p.N349I	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	349					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		TCCATTTTGAATGATAACATC	0.403000														12			32		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717364	222717364	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:222717364C>T	uc001hnh.1	-	1	547	c.489G>A	c.(487-489)agG>agA	p.R163R		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	163					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGGTACCGTCCCTTCCATGAG	0.567000														93			28		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77693930	77693930	+	Missense_Mutation	SNP	C	T	T	rs11915149		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:77693930C>T	uc011bgk.2	+	25	4665	c.4022C>T	c.(4021-4023)tCt>tTt	p.S1341F	ROBO2_uc021xat.1_Missense_Mutation_p.S1353F|ROBO2_uc003dpy.4_Missense_Mutation_p.S1337F|ROBO2_uc003dpz.3_Missense_Mutation_p.S1402F|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1337					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACAGCTTCTTCTAAGGGATCC	0.517000														28			41		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021858	96021858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:96021858C>T	uc004ati.1	+	10	3028	c.3028C>T	c.(3028-3030)Cct>Tct	p.P1010S	WNK2_uc011lud.1_Missense_Mutation_p.P1010S|WNK2_uc004atj.3_Missense_Mutation_p.P1010S|WNK2_uc004atk.3_Missense_Mutation_p.P647S|WNK2_uc010mrc.1_Missense_Mutation_p.P958S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1010					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCCCACCTTCCTGAACAAGC	0.677000														9			6		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905009	55905009	+	Silent	SNP	G	A	A	rs144645378		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55905009G>A	uc010riz.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F62F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GATGTCTCAGGAAAAAGTACA	0.438000														127			34		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220396518	220396518	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220396518G>A	uc002vlz.3	+	1	1176	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	ASIC4_uc010fwi.2_Silent_p.A334A|ASIC4_uc010fwj.2_Silent_p.A334A|ASIC4_uc002vly.2_Silent_p.A334A|ASIC4_uc002vma.3_Silent_p.A334A|ASIC4_uc002vmb.3_5'UTR	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	334						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCTTCAACGCGGACCCGCGGA	0.627000														57			31		0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50865469	50865469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50865469C>T	uc002prx.3	-	1	238	c.185G>A	c.(184-186)gGg>gAg	p.G62E	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	62					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGGCTTGTCCCCAGGGGATGG	0.587000														33			12		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149480200	149480200	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:149480200G>A	uc010lpk.3	+	15	2082	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	SSPO_uc010lpl.1_Silent_p.Q29Q	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	694	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGGTGCAGGGTCTGTGTG	0.597000														6			4		0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13033582	13033582	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:13033582G>A	uc002mvs.2	-	12	1555	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S	FARSA_uc010xmv.1_Missense_Mutation_p.P472S	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	503					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCCTGTGTGGGAGGGGGCCTC	0.622000														61			31		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496717	24496717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:24496717G>A	uc002kwd.3	-	4	1067	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.R280C|CHST9_uc021uij.1_Missense_Mutation_p.R195C	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	280					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATGGGATCACGAACAAACACA	0.388000														61			35		0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152784959	152784959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152784959C>T	uc001faq.3	+	0	513	c.37C>T	c.(37-39)Cct>Tct	p.P13S		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	13	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCCAGCCccctcccaagtg	0.597000														97			101		0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110969391	110969391	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:110969391A>G	uc001trf.4	+	11	1385	c.1247A>G	c.(1246-1248)aAa>aGa	p.K416R	RAD9B_uc001trg.4_3'UTR|RAD9B_uc010sya.2_Missense_Mutation_p.K311E|RAD9B_uc001tre.4_3'UTR|RAD9B_uc001trd.4_3'UTR	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA.	413					DNA repair|DNA replication|cell cycle checkpoint	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGCTGCAGGAAAGAATTTAAT	0.358000														17			10		0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27622887	27622887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:27622887C>T	uc009vst.2	+	9	1479	c.944C>T	c.(943-945)tCg>tTg	p.S315L	WDTC1_uc001bno.3_Missense_Mutation_p.S315L|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'UTR	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	315							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TGCCACTCCTCGGGGGGTAAG	0.522000														76			72		0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104370810	104370810	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:104370810C>T	uc001tkg.3	+	1	361	c.138C>T	c.(136-138)gcC>gcT	p.A46A	TDG_uc010swh.1_Silent_p.A46A|TDG_uc009zuk.3_Silent_p.A42A|TDG_uc010swi.2_Intron|TDG_uc010swj.2_5'Flank	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	46					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAGTTCCAGCCCCAGCTCCTG	0.443000								Base excision repair (BER), DNA glycosylases						39			13		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78683168	78683168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:78683168G>A	uc003dqe.2	-	23	3606	c.3398C>T	c.(3397-3399)cCt>cTt	p.P1133L	ROBO1_uc003dqc.2_Missense_Mutation_p.P1033L|ROBO1_uc003dqd.2_Missense_Mutation_p.P1088L|ROBO1_uc003dqb.2_Missense_Mutation_p.P1094L|ROBO1_uc010hoh.2_Missense_Mutation_p.P325L|ROBO1_uc011bgl.1_Missense_Mutation_p.P705L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1133					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GATAGTTGGAGGAACTGTGTC	0.398000														34			42		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655871	153655871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153655871G>A	uc001fcs.4	+	5	1704	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	NPR1_uc010pdz.2_Missense_Mutation_p.G174E|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	428					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACTACAATGGGACTTCCCAA	0.592000														15			20		0	0	1	0	0
ORMDL2	29095	broad.mit.edu	37	12	56213193	56213193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:56213193G>A	uc001shw.1	+	2	334	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	DNAJC14_uc009zoa.2_5'Flank|DNAJC14_uc001shs.3_5'Flank|DNAJC14_uc001sht.3_5'Flank|DNAJC14_uc001shu.2_Intron|DNAJC14_uc001shv.4_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	Homo sapiens ORM1-like 2 (S. cerevisiae) (ORMDL2), mRNA.	81					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						GGAAAGGCTCGGCTACTGACA	0.537000														96			59		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593286	47593286	+	Missense_Mutation	SNP	C	T	T	rs112565536		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:47593286C>T	uc003gxk.1	+	22	4333	c.4169C>T	c.(4168-4170)tCc>tTc	p.S1390F	ATP10D_uc003gxl.1_Missense_Mutation_p.S638F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1390					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCAGCAAGTTCCTGTGCTATT	0.453000														47			62		0	0	1	0	0
CT62	196993	broad.mit.edu	37	15	71403552	71403552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:71403552G>A	uc002ata.2	-	3	862	c.349C>T	c.(349-351)Cct>Tct	p.P117S		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	Homo sapiens cancer/testis antigen 62 (CT62), mRNA.	117										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						AGCAGAAAAGGGAAAGAGAAG	0.463000														8			4		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119100597	119100597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:119100597G>A	uc001lde.1	-	1	1088	c.889C>T	c.(889-891)Cca>Tca	p.P297S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	297					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTCTGGTATGGAAAAAACGGC	0.353000														23			13		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72288613	72288613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72288613C>T	uc010rrc.2	-	30	2887	c.2641G>A	c.(2641-2643)Gcg>Acg	p.A881T	PDE2A_uc001oso.3_Missense_Mutation_p.A860T|PDE2A_uc010rra.2_Missense_Mutation_p.A874T|PDE2A_uc001osn.3_Missense_Mutation_p.A625T|PDE2A_uc010rrb.2_Missense_Mutation_p.A872T|PDE2A_uc010rrd.2_Missense_Mutation_p.A766T	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	881	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGCTCTGCCGCTTTGGGGAAC	0.612000														30			42		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642780	127642780	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:127642780G>A	uc010hsr.3	+	0	879	c.876G>A	c.(874-876)agG>agA	p.R292R	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.R292R	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	292										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CAAGACATAGGAGCTATGGGG	0.448000														38			11		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215845251	215845251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:215845251C>T	uc002vew.3	-	30	4916	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	ABCA12_uc002vev.3_Missense_Mutation_p.E1248K|ABCA12_uc010zjn.2_Missense_Mutation_p.E493K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1566	ABC transporter 1.				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)		CCAAAGGCTTCCTTGAGGTAA	0.488000														40			24		0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136385351	136385351	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136385351G>A	uc011mdk.2	-	1	297	c.195C>T	c.(193-195)atC>atT	p.I65I		NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN	Homo sapiens transmembrane protein 8C (TMEM8C), mRNA.	65						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						AATACTCCAGGATGTCGTGAC	0.582000														53			23		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28908228	28908228	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:28908228G>A	uc001usb.3	-	17	2812	c.2527C>T	c.(2527-2529)Caa>Taa	p.Q843*	FLT1_uc001usa.3_Nonsense_Mutation_p.Q61*	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	843	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCTGATGCTTGAACCACTTTT	0.438000														121			135		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457463	124457463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:124457463G>A	uc001lgn.3	-	2	826	c.794C>T	c.(793-795)tCa>tTa	p.S265L		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	265										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGGGAGGAATGATTTGCGATC	0.373000														64			28		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96443702	96443702	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96443702C>T	uc001kjv.4	+	0	452	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C19_uc001kjw.4_Silent_p.I42I	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	42					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGAAATATCCTGCAGTTAG	0.448000														17			9		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825146	23825146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:23825146C>T	uc003sws.4	+	17	2265	c.2198C>T	c.(2197-2199)gCt>gTt	p.A733V	STK31_uc003swt.4_Missense_Mutation_p.A710V|STK31_uc011jze.2_Missense_Mutation_p.A733V|STK31_uc010kuq.3_Missense_Mutation_p.A710V|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	733	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTCTTGATGCTGAGCCCATG	0.418000														85			42		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993203	140993203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:140993203G>A	uc004fbt.3	+	3	337	c.13G>A	c.(13-15)Gat>Aat	p.D5N	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	5							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACAAGGATATGCCTAC	0.522000										HNSCC(15;0.026)				10			23		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904658	88904658	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:88904658C>T	uc001xwq.3	+	11	2113	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	SPATA7_uc001xwr.3_Silent_p.S532S|SPATA7_uc001xws.3_Silent_p.S500S|SPATA7_uc001xwt.3_Silent_p.S458S|SPATA7_uc001xwu.3_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	564					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CATCACCCTCCCAATCTGTTC	0.408000														38			22		0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880961	71880961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:71880961G>A	uc010qjg.2	-	2	317	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	AIFM2_uc021psi.1_Missense_Mutation_p.P101S|AIFM2_uc001jqp.2_Missense_Mutation_p.P101S	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	101					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TGAGAGAAGGGCAGGGCCTGA	0.532000														19			8		0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468292	44468292	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:44468292G>A	uc001cll.3	-	6	1161	c.969C>T	c.(967-969)ccC>ccT	p.P323P	SLC6A9_uc009vxe.2_Silent_p.P179P|SLC6A9_uc010okm.1_Silent_p.P250P|SLC6A9_uc001clm.3_Silent_p.P269P|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.P254P|SLC6A9_uc010oko.2_Silent_p.P139P|SLC6A9_uc001cln.3_Silent_p.P250P|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	323						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCACCACGTAGGGGAACGTGG	0.607000														53			52		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715676	18715676	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:18715676G>A	uc001rdt.3	+	25	3623	c.3507G>A	c.(3505-3507)ttG>ttA	p.L1169L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1210L|PIK3C2G_uc010sic.2_Silent_p.L988L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1169	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGTTAAATTGAATAACTTGA	0.383000														6			4		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330336	125330336	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125330336G>C	uc004bmp.1	-	0	421	c.421C>G	c.(421-423)Cac>Gac	p.H141D		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGACACAGTGGTGGTGGCTC	0.552000														29			17		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518819	70518819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70518819C>T	uc001xly.3	-	4	2673	c.1919G>A	c.(1918-1920)aGg>aAg	p.R640K	SLC8A3_uc001xlv.3_Missense_Mutation_p.R11K|SLC8A3_uc001xlu.3_5'UTR|SLC8A3_uc001xlw.3_Missense_Mutation_p.R637K|SLC8A3_uc001xlx.3_Missense_Mutation_p.R638K|SLC8A3_uc001xlz.3_Missense_Mutation_p.R634K|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_5'UTR	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	640					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGTCAGCTTCCTGTCTGTCAC	0.468000														53			43		0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048415	104048415	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:104048415C>T	uc004bbb.3	+	3	681	c.282C>T	c.(280-282)ttC>ttT	p.F94F	LPPR1_uc011lvi.2_Silent_p.F70F|LPPR1_uc004bbc.3_Silent_p.F94F|LPPR1_uc010mtc.3_Silent_p.F78F	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	94						integral to membrane	catalytic activity	p.F94F(1)									CCATGTATTTCATAAAATCAA	0.373000														36			29		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52262207	52262207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:52262207C>T	uc002lfq.1	+	1	219	c.173C>T	c.(172-174)tCc>tTc	p.S58F		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	58						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GCTCACAGTTCCATATGCTGG	0.453000														66			44		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248222	117248222	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:117248222C>T	uc003pxm.3	+	16	1981	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	640					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			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						TGCTGGTCATCTGATGACACC	0.463000														30			80		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528249	20528249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20528249G>A	uc001vwn.1	+	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	16			G -> V (in dbSNP:rs45584133).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TATTTTACTAGGATTTTTTGG	0.343000														55			24		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822892	54822892	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54822892G>A	uc002qfe.3	-	4	624	c.504C>T	c.(502-504)ttC>ttT	p.F168F	LILRA5_uc002qff.3_Silent_p.F156F|LILRA5_uc010yev.2_Silent_p.F168F|LILRA5_uc010yew.2_Silent_p.F156F|LILRA5_uc002qfg.1_Silent_p.F168F|LILRA5_uc002qfh.1_Silent_p.F156F	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	168	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity	p.R167T(1)|p.R167I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAACCTGTCGAATCTCAGCC	0.582000														41			19		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137499029	137499029	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:137499029G>C	uc003lcf.1	-	14	1932	c.1877C>G	c.(1876-1878)gCc>gGc	p.A626G	BRD8_uc011cyl.2_Missense_Mutation_p.A405G|BRD8_uc021yea.1_Missense_Mutation_p.A516G|BRD8_uc003lcg.3_Missense_Mutation_p.A699G|BRD8_uc003lci.3_Missense_Mutation_p.A629G|BRD8_uc011cym.2_Missense_Mutation_p.A610G|BRD8_uc011cyn.1_Missense_Mutation_p.A585G	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	626					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCACCTGGGGCATCCTTAGA	0.448000														50			17		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011576	32011576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32011576G>A	uc003nzl.2	-	34	11676	c.11474C>T	c.(11473-11475)tCg>tTg	p.S3825L	TNXB_uc003nzg.1_Missense_Mutation_p.S256L|TNXB_uc003nzh.1_Missense_Mutation_p.S294L	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3872	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.S3892L(1)|p.S256L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTCGGACCGAGACCACGGT	0.627000														113			79		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50671731	50671731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:50671731G>A	uc003tpi.2	-	13	1554	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	GRB10_uc003tph.3_Missense_Mutation_p.S445F|GRB10_uc003tpj.2_Missense_Mutation_p.S457F|GRB10_uc003tpk.2_Missense_Mutation_p.S503F|GRB10_uc010kzb.2_Missense_Mutation_p.S445F|GRB10_uc003tpl.2_Missense_Mutation_p.S497F|GRB10_uc003tpm.2_Missense_Mutation_p.S445F	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	503	SH2.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GATCCTGTGGGATTCCTCCCT	0.527000									Russell-Silver syndrome					124			67		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14437592	14437592	+	RNA	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:14437592A>C	uc002yja.4	+	8		c.2262A>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		gccatggctcacacctgtaat	0.478000														14			3		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675353	100675353	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100675353C>A	uc003uxp.1	+	2	709	c.656C>A	c.(655-657)aCa>aAa	p.T219K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	219	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)					ACTCCATTAACAAGTATGCCT	0.473000														185			77		4.05715e-38	4.10804e-38	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604280	140604280	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140604280C>T	uc003ljb.3	+	0	1203	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	401	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F401C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACTTTTTCACTCTAGTTT	0.458000														118			53		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501404	220501404	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220501404C>T	uc002vmo.4	+	15	2633	c.2424C>T	c.(2422-2424)ttC>ttT	p.F808F	SLC4A3_uc002vmp.4_Silent_p.F781F|SLC4A3_uc010fwm.3_Silent_p.F331F|SLC4A3_uc010fwn.1_Silent_p.F290F	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	781	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCTAGTTCTGCCGAGCCC	0.642000														29			20		0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33230221	33230221	+	Silent	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:33230221A>G	uc011lbi.2	-	4	1630	c.1464T>C	c.(1462-1464)tcT>tcC	p.S488S	FUT10_uc003xjc.3_Silent_p.S445S|FUT10_uc003xjd.3_Silent_p.S410S|FUT10_uc003xje.3_Silent_p.S438S			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	438					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCTCTCGCAAAGAGCTCAAAG	0.488000														22			30		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129406	248129406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248129406C>T	uc010pzd.2	+	0	773	c.773C>T	c.(772-774)tCc>tTc	p.S258F	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S257Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTTGTTCCTCCCACCTGATT	0.507000														20			48		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121237401	121237401	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:121237401C>T	uc003yox.3	+	14	2077	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	COL14A1_uc003yoy.3_Silent_p.F282F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	604	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTGCTATTTTCTCCATCTATG	0.398000														56			11		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234863777	234863777	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:234863777C>T	uc002vvh.3	+	11	1284	c.1244_splice	c.e11-1	p.A415_splice	TRPM8_uc010fyj.3_Splice_Site_p.A103_splice	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	415						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTCACAGCCTTCAGCACCA	0.473000														41			15		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	30032595	30032595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:30032595C>T	uc003cel.3	+	13	1572	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L	RBMS3_uc010hfq.3_Missense_Mutation_p.P398L|RBMS3_uc003cek.3_Missense_Mutation_p.P385L|RBMS3_uc010hfr.3_Missense_Mutation_p.P385L|RBMS3_uc003cem.3_Missense_Mutation_p.P383L	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	401						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GATACCTCTCCCCAGACAGTG	0.493000														26			30		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442398	138442398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:138442398G>A	uc003ihe.4	-	3	3580	c.3193C>T	c.(3193-3195)Ccc>Tcc	p.P1065S	PCDH18_uc003ihf.4_Missense_Mutation_p.P1057S|PCDH18_uc011cgz.2_Missense_Mutation_p.P276S|PCDH18_uc003ihg.4_Missense_Mutation_p.P844S|PCDH18_uc011cha.2_Missense_Mutation_p.P245S	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	1065	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGGTGGTGGGATTTTGAAAA	0.562000														43			15		0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10590151	10590151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10590151G>A	uc002gmr.4	-	4	725	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S		NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.	222					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						ACCAGTTTGGGAGAAAATTCT	0.423000														66			18		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848121	166848121	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166848121C>T	uc002udo.4	-	27	5891	c.5664G>A	c.(5662-5664)caG>caA	p.Q1888Q	SCN1A_uc010fpk.3_Silent_p.Q1860Q|SCN1A_uc021vsb.1_Silent_p.Q1877Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1888						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q1888H(1)|p.Q1877H(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCTCTTCCATCTGTATTCGTA	0.438000														40			16		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2910139	2910139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2910139C>T	uc022aqr.1	-	49	7895	c.7505G>A	c.(7504-7506)gGa>gAa	p.G2502E	CSMD1_uc011kwj.2_Missense_Mutation_p.G1832E|CSMD1_uc010lrg.3_Missense_Mutation_p.G571E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2503	Sushi 15.					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)		TGAACCGTTTCCTGGGGATTC	0.418000														14			7		0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625222	56625222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:56625222C>T	uc010sqj.2	+	3	421	c.164C>T	c.(163-165)gCa>gTa	p.A55V	SLC39A5_uc010sqi.2_Intron|SLC39A5_uc010sqk.2_Missense_Mutation_p.A55V	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	55					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGCTGACTGCAGGGGGCTTG	0.662000														50			22		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281203	15281203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:15281203C>T	uc002nan.3	-	26	5129	c.5053G>A	c.(5053-5055)Gac>Aac	p.D1685N		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1685					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)			GAGGCCACGTCCTTGTGCAGT	0.652000														33			15		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42652221	42652221	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42652221T>A	uc001zpn.1	+	0	524	c.218T>A	c.(217-219)gTt>gAt	p.V73D	CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Missense_Mutation_p.V73D|CAPN3_uc001zpp.1_Missense_Mutation_p.V73D	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	73					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAAAAGAAAGTTCTTTATGTG	0.458000														156			89		0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45746145	45746145	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:45746145C>T	uc002zek.3	+	23	2735	c.2334C>T	c.(2332-2334)ttC>ttT	p.F778F	PFKL_uc002zel.3_Silent_p.F731F|PFKL_uc002zem.3_Silent_p.F318F|PFKL_uc002zen.3_Silent_p.F318F			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	731					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACACTGATTTCGAGTGAGTTC	0.642000														15			10		0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969565	240969565	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:240969565G>A	uc010zoc.2	-	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	OR6B2_uc002vyr.3_Silent_p.F94F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCACCCGACGAAAGAGATGC	0.572000														50			5		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590640	156590640	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:156590640C>G	uc003lwn.3	-	1	736	c.636G>C	c.(634-636)caG>caC	p.Q212H		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	212						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCTCACTCTGATCCCCTT	0.512000														50			75		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132892410	132892410	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:132892410G>A	uc011eck.2	+	0	950	c.950G>A	c.(949-951)tGg>tAg	p.W317*		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	317						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTTTACCCATGGTTTAGGAAA	0.338000														19			61		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198468	20198468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:20198468C>T	uc003sus.4	-	4	1825	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	MACC1_uc010kug.3_Missense_Mutation_p.D506N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	506					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GGGGTTGGATCAGGAGTAGTG	0.418000														60			37		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28483479	28483479	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:28483479G>A	uc021yrx.1	-	0	92	c.42C>T	c.(40-42)ttC>ttT	p.F14F	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	14					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGCCAACCAGGAAAAACAGGA	0.547000														69			45		0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473622	43473622	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:43473622G>A	uc002iix.3	-	13	1628	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	ARHGAP27_uc010dak.3_Silent_p.I366I	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	734					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GGTTTCCACTGATGCGGTACA	0.652000														26			27		0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224646	59224646	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:59224646C>T	uc010rku.2	+	0	213	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71I(2)|p.D70D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCTGGACATCGTTTTTTCAT	0.463000														37			41		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31323938	31323938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:31323938G>A	uc002hhs.1	+	2	496	c.421G>A	c.(421-423)Ggg>Agg	p.G141R	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	141					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CACCAACAACGGGATCTTCCA	0.592000														90			49		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50368798	50368798	+	RNA	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:50368798G>A	uc001nhe.2	+	1		c.102G>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		AACTGTAGGTGAAATACATGA	0.318000														32			10		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46265205	46265205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:46265205G>A	uc002xtk.3	+	11	2336	c.2075G>A	c.(2074-2076)gGg>gAg	p.G692E	NCOA3_uc002xtl.3_Missense_Mutation_p.G692E|NCOA3_uc002xtn.3_Missense_Mutation_p.G692E|NCOA3_uc010ght.2_Missense_Mutation_p.G702E|NCOA3_uc002xtm.3_Missense_Mutation_p.G692E|NCOA3_uc010zyc.2_Missense_Mutation_p.G487E	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	692					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTGCAGAATGGGAATTCACCA	0.483000														44			57		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38572549	38572549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:38572549C>T	uc002yvz.3	+	44	5972	c.5867C>T	c.(5866-5868)tCc>tTc	p.S1956F	TTC3_uc002ywa.3_Missense_Mutation_p.S1956F|TTC3_uc002ywb.3_Missense_Mutation_p.S1956F|TTC3_uc010gnf.3_Missense_Mutation_p.S1721F|TTC3_uc002ywc.3_Missense_Mutation_p.S1646F	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1956					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGTGCAAGTTCCTGTGAAATA	0.428000														36			15		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328842	152328842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152328842C>T	uc001ezw.4	-	2	1493	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	474	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGTCTTACCTGAGCTAGAC	0.517000														165			158		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48391659	48391659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:48391659C>T	uc001rqu.3	-	5	605	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	COL2A1_uc001rqv.3_Missense_Mutation_p.E73K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	142			E -> D (in dbSNP:rs34392760).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCACTTTTTCACCTTTGTCA	0.542000														122			67		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41100974	41100974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:41100974C>T	uc002xkg.3	-	7	1566	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R461Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	461	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGCAAGAGTCGCAGCCGGAT	0.602000														75			22		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95346994	95346994	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:95346994G>A	uc010qnt.2	+	3	818	c.762G>A	c.(760-762)agG>agA	p.R254R	O3FAR1_uc010qnu.2_Silent_p.R238R	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	254					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						AGGCATCAAGGAAGAGGCTCA	0.562000														24			19		0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29546896	29546896	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:29546896C>T	uc003szz.3	+	10	1481	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	CHN2_uc011jzs.2_Silent_p.I423I|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.I313I|CHN2_uc011jzt.2_Silent_p.I361I|CHN2_uc010kvd.3_Silent_p.I204I|CHN2_uc011jzu.2_Silent_p.I333I|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Intron|CHN2_uc010kve.3_Intron|CHN2_uc003taa.3_Silent_p.I212I|CHN2_uc010kvf.3_Silent_p.I154I|CHN2_uc010kvg.3_Intron|CHN2_uc010kvj.3_Intron|CHN2_uc010kvk.3_Silent_p.I23I|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Silent_p.I167I|CHN2_uc011jzv.2_Silent_p.I141I	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	348	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TAAACATCATCACTGGAGCCC	0.378000														28			17		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102709923	102709923	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:102709923G>A	uc001phj.1	-	6	1052	c.987C>T	c.(985-987)atC>atT	p.I329I	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	329	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AAAATGAAGAGATCAAATGCA	0.363000														63			26		0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136683760	136683760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:136683760C>T	uc011edg.2	-	10	1693	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	MAP7_uc011edf.2_Missense_Mutation_p.A437T|MAP7_uc010kgu.3_Missense_Mutation_p.A474T|MAP7_uc011edh.2_Missense_Mutation_p.A437T|MAP7_uc010kgv.3_Missense_Mutation_p.A474T|MAP7_uc010kgs.3_Missense_Mutation_p.A306T|MAP7_uc011edi.2_Missense_Mutation_p.A306T|MAP7_uc010kgq.2_Missense_Mutation_p.A358T|MAP7_uc003qgz.3_Missense_Mutation_p.A452T|MAP7_uc003qha.2_Missense_Mutation_p.A415T	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	452					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		gagaccatggctggggtgggg	0.637000														8			6		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404448	197404448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:197404448G>A	uc001gtz.3	+	8	3664	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	CRB1_uc010poz.2_Missense_Mutation_p.G1128E|CRB1_uc009wza.3_Missense_Mutation_p.G1040E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.G633E|CRB1_uc001gub.1_Missense_Mutation_p.G801E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1152	EGF-like 15.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCATGGAGGAAACTGTGAA	0.443000														37			11		0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43570367	43570367	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:43570367G>A	uc003bdq.3	-	7	1139	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	TTLL12_uc021wqu.1_5'Flank	NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	359	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCTCGCAGGGGAACTGGTTCA	0.692000														29			12		0	0	1	0	0
PDCL2	132954	broad.mit.edu	37	4	56448404	56448404	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:56448404C>T	uc003hbb.3	-	2	110	c.7_splice	c.e2-1	p.D3_splice		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	3										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TCATTGGGATCCTACACAAAA	0.303000														43			16		0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9828803	9828803	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:9828803G>A	uc002gmg.1	-	10	1289	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	GAS7_uc010vvc.1_Silent_p.S190S|GAS7_uc002gmh.1_Silent_p.S236S|GAS7_uc010vvd.1_Silent_p.S328S|GAS7_uc002gmi.2_Silent_p.S312S|GAS7_uc002gmj.1_Silent_p.S316S|GAS7_uc010coh.1_Silent_p.S316S	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	376					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CAGCCTGTGTGGACTTTCTCC	0.597000			T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		179			51		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767174	57767174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:57767174C>T	uc002yan.3	+	0	1100	c.1100C>T	c.(1099-1101)tCg>tTg	p.S367L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	367						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)					CACAGCCTTTCGGAGCACAGC	0.766000														10			12		0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42728983	42728983	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:42728983G>T	uc002osz.1	+	2	584	c.428G>T	c.(427-429)tGg>tTg	p.W143L	ZNF526_uc021uvc.1_Missense_Mutation_p.W143L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TACCAGTGCTGGGACTGCCAG	0.622000														63			35		4.14481e-20	4.18513e-20	1	1	0
FAM161A	84140	broad.mit.edu	37	2	62067293	62067293	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:62067293G>A	uc002sbm.4	-	2	948	c.846C>T	c.(844-846)ttC>ttT	p.F282F	FAM161A_uc002sbn.4_Silent_p.F92F|FAM161A_uc010ypo.2_Silent_p.F282F|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.F173F	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	282					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATTGGCTCGGAATTTCTTCT	0.388000														58			39		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985208	240985208	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:240985208G>A	uc010zoe.2	-	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCACCCGACGAAAGAGATGC	0.567000														29			6		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101706809	101706809	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:101706809G>A	uc010fiv.3	-	1	276	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	TBC1D8_uc010yvw.2_Silent_p.L49L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	49					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ACTGCATCCAGAGCGCCGACC	0.542000														32			11		0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	169321	169321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:169321C>T	uc002fre.2	-	4	584	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RPH3AL_uc010vpy.2_Missense_Mutation_p.E81K|RPH3AL_uc021tmx.1_Missense_Mutation_p.E81K|RPH3AL_uc002frf.2_Missense_Mutation_p.E81K|RPH3AL_uc010cjl.2_Missense_Mutation_p.E81K	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	81	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCATGGTCTCCAGCCGCTCC	0.632000														18			36		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32328309	32328309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:32328309C>T	uc004dda.1	-	41	6251	c.6007G>A	c.(6007-6009)Gaa>Aaa	p.E2003K	DMD_uc004dcw.2_Missense_Mutation_p.E659K|DMD_uc004dcx.2_Missense_Mutation_p.E662K|DMD_uc004dcz.2_Missense_Mutation_p.E1880K|DMD_uc004dcy.1_Missense_Mutation_p.E1999K|DMD_uc004ddb.1_Missense_Mutation_p.E1995K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2003					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAGTGATTTCAGTCAAATAA	0.408000														1			12		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570499	31570499	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:31570499C>T	uc002rnv.1	-	28	3244	c.3165G>A	c.(3163-3165)ctG>ctA	p.L1055L		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1055					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)	TGGGGATTTTCAGAGCTCTAC	0.527000														38			35		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														64			4		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156581	22156581	+	Missense_Mutation	SNP	G	A	A	rs113734787		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:22156581G>A	uc021urr.1	-	3	1404	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATGACCTCA	0.373000														35			10		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34809819	34809819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:34809819G>A	uc010gfq.3	+	9	3130	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	EPB41L1_uc002xeu.3_Missense_Mutation_p.E723K|EPB41L1_uc002xev.3_Missense_Mutation_p.E824K|EPB41L1_uc002xew.3_Missense_Mutation_p.E716K|EPB41L1_uc002xex.3_Missense_Mutation_p.E645K|EPB41L1_uc002xey.3_Missense_Mutation_p.E575K|EPB41L1_uc002xez.3_Missense_Mutation_p.E723K|EPB41L1_uc002xfb.3_Missense_Mutation_p.E825K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	825					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GACAAGGATCGAGAAGCGAAT	0.552000														103			32		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048784	42048784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:42048784G>A	uc001cgz.4	-	3	2898	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	HIVEP3_uc001cha.4_Missense_Mutation_p.S562F|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.	562	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTCATCGAAGGAGTAGCTACC	0.612000														39			50		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68468991	68468991	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:68468991G>A	uc002aqz.3	+	11	1574	c.1481_splice	c.e11+1	p.G494_splice		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	494					JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAATAATAAAGGGTAAGTGCT	0.363000														28			8		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233746933	233746934	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:233746933_233746934CC>TT	uc002vts.2	-	12	2047_2048	c.1799_1800GG>AA	c.(1798-1800)agg>aAA	p.R600K	NGEF_uc010zmm.1_Missense_Mutation_p.R323K|NGEF_uc010fyg.1_Missense_Mutation_p.R508K	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	600	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ACTTGGTCCTCCTGTTGGGGGC	0.614000														24			12		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670269	158670269	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158670269G>A	uc001fsu.1	-	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAGTATACATGGGAGTGTGGA	0.438000														70			24		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361759	52361759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:52361759C>T	uc003joy.3	+	14	2038	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.S556F|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	632					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AATGGGGATTCCATCACCGAT	0.448000														24			13		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70477663	70477663	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70477663G>A	uc001xlt.2	+	8	1139	c.857_splice	c.e8+1	p.R286_splice	SMOC1_uc001xls.2_Splice_Site_p.R286_splice	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	286	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACCTCCACACGGTAAGCCCCC	0.617000														23			14		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709307	176709307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176709307G>A	uc001gkz.3	+	13	5290	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1376					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCAGAGGACGAGGGGCAGAA	0.483000														28			15		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138676448	138676448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:138676448C>T	uc011mdq.2	+	25	3085	c.3011C>T	c.(3010-3012)tCg>tTg	p.S1004L	KCNT1_uc011mdr.2_Missense_Mutation_p.S831L|KCNT1_uc010nbf.3_Missense_Mutation_p.S959L|KCNT1_uc004cgo.1_Missense_Mutation_p.S753L	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1004						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGCCGGGCTCGGGGTACCTC	0.682000														6			7		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389761	158389761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158389761G>A	uc010pii.2	-	0	896	c.896C>T	c.(895-897)tCa>tTa	p.S299L		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					ACAAAGAGCTGATTTGAACTC	0.363000														28			9		0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16496008	16496008	+	Silent	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:16496008A>G	uc002ndx.3	-	20	2185	c.2179T>C	c.(2179-2181)Tta>Cta	p.L727L	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Silent_p.L617L|EPS15L1_uc002ndz.1_Silent_p.L727L|EPS15L1_uc010xpf.1_Silent_p.L630L|EPS15L1_uc002nea.1_Silent_p.L727L|EPS15L1_uc010eah.1_Silent_p.L729L	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	727	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.L727I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AAGGGATCTAAGGTTCCAAAG	0.542000														56			44		0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99296257	99296257	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:99296257G>A	uc004awj.3	-	8	1350	c.898C>T	c.(898-900)Cta>Tta	p.L300L	CDC14B_uc004awk.3_Silent_p.L300L|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Silent_p.L263L	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	300	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAGATATCTAGGAATTCTTTG	0.418000														13			15		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149240510	149240510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:149240510C>T	uc003lrg.4	-	21	2651	c.2531G>A	c.(2530-2532)gGa>gAa	p.G844E	PDE6A_uc021yfs.1_Missense_Mutation_p.G763E	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	844					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.G844*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCTGGGGTTTCCCCCCGGCTG	0.572000														17			25		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990658	63990658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:63990658C>T	uc003peh.3	-	3	832	c.798G>A	c.(796-798)atG>atA	p.M266I	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	266					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AAGAGATTTCCATCTGACCAG	0.438000														37			21		0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064610	158064610	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158064610C>T	uc001frn.4	+	14	2378	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	KIRREL_uc010pib.2_Silent_p.A558A|KIRREL_uc009wsq.3_Silent_p.A494A|KIRREL_uc001fro.4_Silent_p.A472A|hCG_1995134_uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	658						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGGCCCTGCCTCTGACTATG	0.652000														32			31		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107506	42107506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42107506C>T	uc001zok.4	+	11	1524	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	MAPKBP1_uc010bci.3_Missense_Mutation_p.S407F|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S407F|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCCCCAGTTCCTTTATTACC	0.582000														36			16		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725584	45725584	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:45725584G>A	uc003tne.4	+	12	2115	c.2097G>A	c.(2095-2097)tgG>tgA	p.W699*		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	699					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			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)	CTTGGGCCTGGAGCTCCAAGC	0.652000														17			8		0	0	1	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131774560	131774560	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:131774560C>T	uc004bww.3	-	6	737	c.591G>A	c.(589-591)caG>caA	p.Q197Q	SH3GLB2_uc022bon.1_5'Flank|SH3GLB2_uc004bwv.3_Silent_p.Q193Q	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.	193	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GTCTAGTCTCCTGAAAGTCAG	0.652000														7			3		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176525627C>T	uc001gkz.3	+	1	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.R57*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000														45			58		0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74641821	74641821	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:74641821G>A	uc004ecg.3	-	8	1219	c.741C>T	c.(739-741)gcC>gcT	p.A247A	ZDHHC15_uc004ech.3_Silent_p.A238A|ZDHHC15_uc011mqo.1_Non-coding_Transcript	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	Homo sapiens zinc finger, DHHC-type containing 15 (ZDHHC15), transcript variant 1, mRNA.	247						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GAGTGCAGAAGGCCTCTAAGG	0.408000														6			10		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37337858	37337858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:37337858C>T	uc001caz.2	-	3	798	c.663G>A	c.(661-663)atG>atA	p.M221I	GRIK3_uc001cba.1_Missense_Mutation_p.M221I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	221					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCTCGCTTCATCTCCTTGA	0.587000														34			42		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405573	40405573	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:40405573G>A	uc002rrx.3	-	1	1893	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.F623F|SLC8A1_uc002rsb.2_Intron|SLC8A1_uc002rrz.3_Intron|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	623	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAATCTCAAGGAAGAAGGTCT	0.498000														118			63		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2084115	2084115	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:2084115C>T	uc003zhc.3	+	16	2544	c.2445C>T	c.(2443-2445)gtC>gtT	p.V815V	SMARCA2_uc003zhd.3_Silent_p.V815V|SMARCA2_uc010mha.3_Silent_p.V806V	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	815	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCTCCCTTGTCCCCCAGCTAC	0.373000														10			10		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711035	58711035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:58711035C>T	uc001nnh.2	+	1	94	c.44C>T	c.(43-45)tCt>tTt	p.S15F	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	caagaaggatctgaagtggag	0.433000														10			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986719	20986719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20986719C>T	uc010vbe.2	-	50	8095	c.8095G>A	c.(8095-8097)Gaa>Aaa	p.E2699K	DNAH3_uc010vbd.2_Missense_Mutation_p.E134K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2699	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2699*(3)		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)		GCTGTCAGTTCTCTTTGCATA	0.463000														49			35		0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77407851	77407851	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:77407851T>C	uc010ldt.1	+	7	1951	c.1907T>C	c.(1906-1908)gTc>gCc	p.V636A		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	636						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTAGTGTGTCCAATGGGTT	0.333000														44			20		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795855	43795856	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:43795855_43795856GG>AA	uc002zbb.2	-	11	1517_1518	c.1316_1317CC>TT	c.(1315-1317)tcc>tTT	p.S439F	TMPRSS3_uc002zay.2_Missense_Mutation_p.S196F|TMPRSS3_uc002zaz.2_Missense_Mutation_p.S312F|TMPRSS3_uc002zba.2_Missense_Mutation_p.S312F|TMPRSS3_uc002zbc.2_Missense_Mutation_p.S438F	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	439	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGTCCAGGAAGGAGGTGACACG	0.599000														60			41		0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178985967	178985968	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:178985967_178985968CC>TT	uc002ulv.3	+	4	826_827	c.734_735CC>TT	c.(733-735)tcc>tTT	p.S245F		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	247					cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GAAGCAATCTCCAAACGCTTGT	0.356000														25			13		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346753	48346753	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:48346753C>T	uc010rhv.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTATTTTTTCCTGGCCAACC	0.453000														57			7		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202110	39202110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:39202110G>A	uc003jls.3	-	0	1020	c.953C>T	c.(952-954)tCt>tTt	p.S318F	FYB_uc003jlt.3_Missense_Mutation_p.S318F|FYB_uc003jlu.3_Missense_Mutation_p.S318F|FYB_uc011cpl.2_Missense_Mutation_p.S328F	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	318					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTCAGCTTAGAAGGGGCCTT	0.517000														78			18		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847270	60847270	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:60847270C>T	uc002yck.1	+	4	550	c.348C>T	c.(346-348)ctC>ctT	p.L116L	OSBPL2_uc002ycl.1_Silent_p.L104L|OSBPL2_uc011aah.1_Silent_p.L24L	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	116					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ACGTGTACCTCATCCACAGGG	0.582000														60			13		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75983118	75983118	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75983118C>T	uc002baw.3	-	2	381	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	96	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGGAGTCTGCAGCCTCAGCT	0.547000														104			4		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240492663	240492663	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:240492663C>T	uc010pye.2	+	10	4569	c.4344C>T	c.(4342-4344)atC>atT	p.I1448I	FMN2_uc010pyd.2_Silent_p.I1444I|FMN2_uc010pyf.1_Silent_p.I90I|FMN2_uc010pyg.2_Silent_p.I40I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1444	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGTCACTAATCCCCAACTTTT	0.358000														89			28		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987166	61987166	+	Missense_Mutation	SNP	C	T	T	rs149151535		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:61987166C>T	uc002jda.1	-	4	636	c.574G>A	c.(574-576)Ggg>Agg	p.G192R	CSHL1_uc002jcz.1_Missense_Mutation_p.G169R|CSHL1_uc002jdb.1_Missense_Mutation_p.G98R|CSHL1_uc002jdc.1_Missense_Mutation_p.G109R|CSHL1_uc002jdd.1_Missense_Mutation_p.G130R	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	192						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGGAGCAGCCCGTAGTTCTTG	0.587000														160			69		0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801776	9801776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9801776C>T	uc021uop.1	-	5	1049	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	ZNF812_uc010xkx.2_Missense_Mutation_p.E31K	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	135	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TTGGAAAGTTCCTGTCCAATA	0.398000														34			18		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676346	56676346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:56676346G>A	uc010dcz.2	-	13	2496	c.2378C>T	c.(2377-2379)gCc>gTc	p.A793V	TEX14_uc002iwr.2_Missense_Mutation_p.A787V|TEX14_uc002iws.2_Missense_Mutation_p.A787V|TEX14_uc010dda.2_Missense_Mutation_p.A567V	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	793						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGCCCACGGCCAGAGGTAA	0.468000														41			61		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766276	43766276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43766276G>A	uc002owd.4	-	2	544	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	PSG9_uc002owe.4_Missense_Mutation_p.P149S|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.P149S	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	149	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GAGATGTAGGGCTTGGGAGTC	0.512000														127			76		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196397261	196397261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:196397261C>T	uc001gtd.1	-	9	1018	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E320K|KCNT2_uc001gtf.1_Missense_Mutation_p.E320K|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.E320K|KCNT2_uc009wyv.1_Missense_Mutation_p.E295K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	320						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCATAGAATTCATTTAAAAAA	0.373000														40			16		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769157	31769157	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:31769157C>T	uc002nsy.4	-	1	1607	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	514					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P514P(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTTGGGACTCTCTTCTAAGT	0.483000														99			55		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123348433	123348433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:123348433C>T	uc003ego.3	-	29	5284	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K	MYLK-AS1_uc003egk.3_Non-coding_Transcript|MYLK_uc010hrr.3_Missense_Mutation_p.E103K|MYLK_uc011bjv.2_Missense_Mutation_p.E468K|MYLK_uc011bjw.2_Missense_Mutation_p.E1668K|MYLK_uc003egp.3_Missense_Mutation_p.E1599K|MYLK_uc003egq.3_Intron|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.E1492K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1668	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCAAGGTTTCGTTATCGTTG	0.557000														51			54		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716582	101716582	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:101716582G>A	uc001kqj.2	-	3	741	c.649C>T	c.(649-651)Caa>Taa	p.Q217*	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	217					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGTCATCTTGATTTCCAGAA	0.512000														61			41		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176042	57176042	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:57176042G>A	uc010ygn.2	-	1	752	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.F197L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGCCCTGGCTGAAGGCCTTGC	0.706000														10			6		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54329643	54329643	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:54329643C>T	uc003jpl.1	+	4	728	c.684C>T	c.(682-684)gtC>gtT	p.V228V		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	228	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACGCTATAGTCTCTGGAGGTC	0.483000														43			22		0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73954224	73954224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:73954224C>T	uc003uaq.3	+	13	1937	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.S547F|GTF2IRD1_uc003uap.3_Missense_Mutation_p.S515F|GTF2IRD1_uc003uar.1_Missense_Mutation_p.S515F	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	515						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCGCCAACCTCTGAGGAAATG	0.557000														41			20		0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959335	117959335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:117959335G>A	uc004equ.3	+	3	601	c.128G>A	c.(127-129)aGa>aAa	p.R43K	ZCCHC12_uc022cdh.1_Missense_Mutation_p.R43K	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATGGCAGACAgaaacatgaag	0.567000														8			22		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105352963	105352963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:105352963C>T	uc001yps.3	+	10	2483	c.2177C>T	c.(2176-2178)tCt>tTt	p.S726F	KIAA0284_uc010axb.3_Missense_Mutation_p.S726F|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	796						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		ACTCCCGCCTCTTTCTTCATT	0.677000														11			6		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516118	138516118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:138516118G>A	uc010nbd.1	-	4	910	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CTGTCCAAACGGGATGCAAGC	0.488000														69			37		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086690	53086690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:53086690C>T	uc010ydn.2	+	4	1639	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	ZNF701_uc002pzs.2_Missense_Mutation_p.H460Y|ZNF701_uc021uyw.1_Missense_Mutation_p.H526Y	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TCATAGACTTCATACTGGAAA	0.358000														29			21		0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34190548	34190548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:34190548C>T	uc002hke.1	-	6	732	c.583G>A	c.(583-585)Gag>Aag	p.E195K	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.E155K|C17orf66_uc010wcm.1_Missense_Mutation_p.E161K	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	195							binding	p.P194T(1)|p.E195E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTCACTTTCTCTGGACCAGTT	0.478000														49			47		0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50494789	50494789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:50494789C>T	uc001zxw.3	+	2	1026	c.794C>T	c.(793-795)cCc>cTc	p.P265L	SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.P30L	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	265					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATCACTCTGCCCTTTTACCAC	0.443000														89			29		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100225217	100225217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100225217C>T	uc003uvv.1	-	14	1819	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	TFR2_uc010lhc.1_Missense_Mutation_p.E125K|TFR2_uc003uvu.1_Missense_Mutation_p.E413K	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	584					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AAGGAGAACTCGACGGCAGGG	0.642000														28			17		0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32072956	32072956	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:32072956G>A	uc003alo.2	-	5	5681	c.5625C>T	c.(5623-5625)ttC>ttT	p.F1875F		NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	2076										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CGAATACCAGGAAGTGCCCGG	0.592000														15			10		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47627450	47627450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:47627450C>T	uc002eev.4	+	10	1160	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	PHKB_uc002eeu.4_Missense_Mutation_p.L363F	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	370					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CATATTTTTCCTTTATATGAT	0.254000														22			11		0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45735996	45735996	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:45735996G>A	uc002ilt.1	+	4	942	c.606G>A	c.(604-606)ttG>ttA	p.L202L	KPNB1_uc010wkw.1_Silent_p.L57L|KPNB1_uc010wkx.1_Silent_p.L57L	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	202					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TGAACTCATTGGAGTTCACCA	0.378000														41			40		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183818295	183818295	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:183818295C>T	uc010hxr.3	+	0	329	c.135C>T	c.(133-135)atC>atT	p.I45I	HTR3E_uc010hxq.3_Silent_p.I30I|HTR3E_uc003fml.4_Silent_p.I30I|HTR3E_uc003fmm.3_Silent_p.I45I|HTR3E_uc003fmn.3_Silent_p.I45I	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	30						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.I45I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTTCACCATCAATTGCTCAG	0.552000														178			160		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758587	62758587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:62758587G>A	uc010ihh.3	+	6	1663	c.1490G>A	c.(1489-1491)aGc>aAc	p.S497N	LPHN3_uc003hcq.4_Missense_Mutation_p.S497N|LPHN3_uc003hcs.1_Missense_Mutation_p.S326N	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	497					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTCGAAGAGAGCTGTGAGGCT	0.512000														14			17		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597025	36597025	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:36597025C>T	uc021qgb.1	+	0	2171	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.S724F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	724					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTCGAGGCTTCTGGCTCAGTC	0.502000									Familial Hemophagocytic Lymphohistiocytosis					59			46		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117103927	117103927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:117103927G>A	uc004biq.3	-	19	4088	c.3953C>T	c.(3952-3954)tCg>tTg	p.S1318L	AKNA_uc004bin.3_Missense_Mutation_p.S565L|AKNA_uc004bio.3_Missense_Mutation_p.S778L|AKNA_uc004bip.3_Missense_Mutation_p.S1237L|AKNA_uc004bir.3_Missense_Mutation_p.S1318L|AKNA_uc004bis.3_Missense_Mutation_p.S1318L|AKNA_uc010mve.2_Missense_Mutation_p.S1199L	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGGGCGTGGCGACGACCCCGC	0.622000														54			25		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433857	43433857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43433857G>A	uc002ovl.4	-	3	545	c.443C>T	c.(442-444)cCc>cTc	p.P148L	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.P27L	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	149	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				GGAGATGGAGGGTTTGGGAGT	0.512000														115			53		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152374874	152374874	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:152374874C>T	uc021vrb.1	-	126	17684	c.17655G>A	c.(17653-17655)ctG>ctA	p.L5885L	NEB_uc002txr.3_Silent_p.L2351L|NEB_uc002txu.3_Silent_p.L7586L|NEB_uc021vrc.1_Silent_p.L7586L|NEB_uc010fnx.3_Silent_p.L5873L|NEB_uc021vrd.1_Silent_p.L5885L|NEB_uc002txt.4_Silent_p.L390L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5885					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAAGCTGCTCCAGATTATCGG	0.453000														107			65		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921455	24921455	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:24921455G>A	uc001ywo.3	+	0	915	c.441G>A	c.(439-441)gaG>gaA	p.E147E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	147					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTCTCCTGGAGGAGACCGAGG	0.607000														33			10		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10276145	10276145	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:10276145G>A	uc003bve.1	+	10	1351	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	425	Protein kinase.				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						TCCCACAGAAGGACTTACTCC	0.572000														57			15		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315630	30315630	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:30315630C>T	uc009xle.2	-	2	3584	c.3447G>A	c.(3445-3447)agG>agA	p.R1149R	KIAA1462_uc001iux.3_Silent_p.R1149R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.R1011R	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1149										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGCCGCACTTCCTCCTGCCAT	0.607000														51			31		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670041	158670041	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158670041G>A	uc001fsu.1	-	0	402	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I134V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGGGGTCATGATAGAGGGAT	0.473000														81			16		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040657	107040657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:107040657C>T	uc010ywi.1	-	19	3823	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1256					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AAAGCATCTTCCCTTAAATCA	0.448000														133			70		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189916147	189916147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:189916147G>A	uc002uqk.3	-	41	3105	c.2830C>T	c.(2830-2832)Cgt>Tgt	p.R944C	COL5A2_uc010frx.3_Missense_Mutation_p.R520C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	944					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGTCCCCACGAAGACCTGGA	0.617000														16			15		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738800	176738800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176738800C>T	uc001gkz.3	+	15	5545	c.4381C>T	c.(4381-4383)Ccc>Tcc	p.P1461S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1461	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGCCTTCCCGTGGACTG	0.473000														56			57		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41012789	41012789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:41012789C>T	uc003jmj.4	-	29	3521	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E566K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1011							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCCAGCATTTCCTCTAGGAAC	0.458000														44			46		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189585657	189585657	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:189585657C>T	uc003fry.2	+	6	1007	c.918C>T	c.(916-918)ttC>ttT	p.F306F	TP63_uc003frx.2_Silent_p.F306F|TP63_uc003frz.2_Silent_p.F306F|TP63_uc010hzc.1_Silent_p.F306F|TP63_uc003fsa.2_Silent_p.F212F|TP63_uc003fsb.2_Silent_p.F212F|TP63_uc003fsc.2_Silent_p.F212F|TP63_uc003fsd.2_Silent_p.F212F|TP63_uc021xir.1_Silent_p.F212F|TP63_uc010hzd.1_Silent_p.F127F|TP63_uc003fse.1_Silent_p.F187F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	306					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTACAATTTCATGTGTAACA	0.398000										HNSCC(45;0.13)				49			19		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465764	41465764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:41465764G>A	uc002yyq.1	-	20	4186	c.3734C>T	c.(3733-3735)tCc>tTc	p.S1245F	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.	1245	Fibronectin type-III 4.				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	p.S1245F(2)		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)				AATTCTGTAGGAAAACGAGTC	0.483000														29			13		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167793962	167793962	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:167793962G>A	uc001ger.3	-	26	4180	c.3882C>T	c.(3880-3882)atC>atT	p.I1294I	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Silent_p.I1141I|ADCY10_uc009wvk.3_Silent_p.I1202I	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1294					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CGTATGCCACGATTTCAATGC	0.522000														146			167		0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178281742	178281742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:178281742C>T	uc003iut.2	+	8	1663	c.1546C>T	c.(1546-1548)Ctc>Ttc	p.L516F		NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	516					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCTCTGCATTCTCCGAGTTGT	0.458000								Base excision repair (BER), DNA glycosylases						86			31		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801640	39801640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:39801640C>T	uc021olw.1	+	0	4700	c.4700C>T	c.(4699-4701)tCc>tTc	p.S1567F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3132					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)			ACAGGCCCATCCCAAATTTCC	0.478000														47			22		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104125007	104125007	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:104125007G>A	uc010mtd.3	-	3	1069	c.960C>T	c.(958-960)ttC>ttT	p.F320F	BAAT_uc004bbd.4_Silent_p.F320F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	320					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CAATGAAGAGGAATTGCCCCT	0.473000														51			29		0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125570014	125570014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:125570014G>A	uc003yrl.2	-	11	1684	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'Flank|MTSS1_uc011lin.1_Missense_Mutation_p.P154S|MTSS1_uc011lio.1_Missense_Mutation_p.P270S|MTSS1_uc003yri.2_Intron|MTSS1_uc003yrj.2_Intron|MTSS1_uc003yrk.2_Missense_Mutation_p.P380S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	380					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGACCCGAGGGAGCAGGCGG	0.562000														14			3		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70087518	70087518	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:70087518G>A	uc001svg.3	-	3	644	c.417C>T	c.(415-417)atC>atT	p.I139I	BEST3_uc001svd.2_Silent_p.I139I|BEST3_uc010stm.2_Silent_p.I33I|BEST3_uc001svi.1_Non-coding_Transcript	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	139						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)			CCGAGCGAAAGATGAGCAGGG	0.517000														51			16		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711325	40711325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40711325C>T	uc011aor.2	+	19	4928	c.4717C>T	c.(4717-4719)Ccc>Tcc	p.P1573S	TNRC6B_uc003aym.3_Missense_Mutation_p.P769S|TNRC6B_uc003ayn.4_Missense_Mutation_p.P1463S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P1320S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1573					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GTCCCCAGATCCCATAGGACA	0.458000														39			19		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428038	119428038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:119428038G>A	uc001ehl.1	-	7	1123	c.808C>T	c.(808-810)Cat>Tat	p.H270Y	TBX15_uc009whj.1_Missense_Mutation_p.H94Y	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	376						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGGGCCAGATGAAAAGTTGGA	0.527000														24			12		0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365623	13365623	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:13365623G>A	uc003nat.2	-	1	1272	c.525C>T	c.(523-525)tcC>tcT	p.S175S	GFOD1_uc021ylt.1_Silent_p.S72S|GFOD1_uc003nas.2_Silent_p.S72S	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	175						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AGGTGCCCACGGAGTGCAGGC	0.632000														17			14		0	0	1	0	0
DUS2L	54920	broad.mit.edu	37	16	68112356	68112356	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:68112356C>T	uc002evi.3	+	15	1328	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R	DUS2L_uc002evj.3_Silent_p.R393R|DUS2L_uc010vkk.2_Silent_p.R358R	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	393	DRBM.				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	p.R393L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGGTTCAACGCCCTCTAGATC	0.463000														73			36		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77530252	77530252	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:77530252C>T	uc011bgk.2	+	3	1192	c.549C>T	c.(547-549)atC>atT	p.I183I	ROBO2_uc021xat.1_Silent_p.I199I|ROBO2_uc003dpy.4_Silent_p.I183I|ROBO2_uc003dpz.3_Silent_p.I183I|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	183	Ig-like C2-type 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTAACAGATCCGTGGTGGAA	0.363000														41			60		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200827081	200827081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:200827081C>T	uc001gvl.3	+	17	4634	c.4364C>T	c.(4363-4365)cCc>cTc	p.P1455L	CAMSAP2_uc001gvk.3_Missense_Mutation_p.P1444L|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P1428L	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1455	CKK.					cytoplasm|microtubule	protein binding										AGCCACATACCCGCTAAAACT	0.363000														82			83		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799781	31799781	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:31799781C>T	uc003jhl.3	+	1	814	c.426C>T	c.(424-426)atC>atT	p.I142I	PDZD2_uc003jhm.3_Silent_p.I142I	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	142	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGATGAGATCCTCTCACTGA	0.602000														192			20		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813316	24813316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:24813316G>A	uc001iru.4	+	12	2924	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	KIAA1217_uc001irs.3_Missense_Mutation_p.E761K|KIAA1217_uc001irt.4_Missense_Mutation_p.E806K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E806K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E806K|KIAA1217_uc001irv.1_Missense_Mutation_p.E656K|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.E524K|KIAA1217_uc001irz.3_Missense_Mutation_p.E524K|KIAA1217_uc001irx.3_Missense_Mutation_p.E524K|KIAA1217_uc001iry.3_Missense_Mutation_p.E524K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	841					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATGGCTATGGAAAAGGCCAC	0.597000														40			21		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38482762	38482762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38482762C>T	uc010ive.1	-	18	2931	c.2599G>A	c.(2599-2601)Gaa>Aaa	p.E867K	LIFR_uc003jli.2_Missense_Mutation_p.E867K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	867					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TAGAAGGTTTCTTTAATCCtt	0.219000			T	PLAG1	salivary adenoma									110			9		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579090	55579090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55579090C>T	uc001nhw.1	+	0	148	c.148C>T	c.(148-150)Cag>Tag	p.Q50*		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCACTGATTCAGGTCAGCTC	0.483000														151			155		0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100052872	100052872	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:100052872A>T	uc003hun.3	-	5	702	c.626T>A	c.(625-627)gTg>gAg	p.V209E	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.V228E	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	209					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AGAAAGACCCACACCTCCTAG	0.458000														67			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090078	9090078	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9090078C>T	uc002mkp.3	-	0	1941	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	579	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G579G(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGCCAAATCCCTTTTGTGG	0.532000														17			10		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30747894	30747894	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:30747894C>T	uc002dze.1	+	32	7342	c.6957C>T	c.(6955-6957)ttC>ttT	p.F2319F	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.F2114F	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2319	Glu-rich.				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)			CCATGAAATTCCTGGAGGCCT	0.542000														22			12		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171710458	171710458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:171710458G>A	uc002ugi.3	+	13	1761	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	GAD1_uc010fqc.3_Missense_Mutation_p.D66N	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	447					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGTCTCCTACGACACCGGGGA	0.478000														77			42		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28611067	28611067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:28611067C>T	uc002kwj.4	-	2	381	c.226G>A	c.(226-228)Gat>Aat	p.D76N	DSC3_uc002kwi.4_Missense_Mutation_p.D76N	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	76					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACTGACCCATCATTTAGAACT	0.418000														25			13		0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15316703	15316703	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:15316703C>T	uc002ktd.1	-	4		c.331G>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		AGCTTTCAGCCGTGTCAGGTG	0.423000														8			4		0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743926	20743926	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:20743926C>T	uc001ytk.2	-	2	457	c.366G>A	c.(364-366)agG>agA	p.R122R	DQ595648_uc021sey.1_5'Flank	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN	Homo sapiens golgin A6 family-like 6 (GOLGA6L6), mRNA.	122										NS(3)|endometrium(4)|kidney(1)|skin(3)	11						CTAGCTCCCTCCTTAGGGCTT	0.493000														1			7		0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47754290	47754290	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:47754290T>A	uc003ozc.3	+	1	198	c.170T>A	c.(169-171)aTg>aAg	p.M57K	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	57					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCCTTTACATGTCTTCTAGA	0.378000														35			39		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111912	111912	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:111912G>A	uc002cfl.4	-	7	1235	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	RHBDF1_uc010uty.2_Silent_p.F387F|RHBDF1_uc010utz.2_Silent_p.F364F|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	364					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCTCCCGGGCGAAGAGCTTGC	0.711000														18			15		0	0	1	0	0
APOD	347	broad.mit.edu	37	3	195298153	195298153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:195298153G>A	uc003fur.2	-	3	691	c.329C>T	c.(328-330)tCc>tTc	p.S110F	APOD_uc011bsx.1_Missense_Mutation_p.S110F	NM_001647	NP_001638	P05090	APOD_HUMAN	Homo sapiens apolipoprotein D (APOD), mRNA.	110					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTTACACCAGGAAAACTTAAC	0.483000														75			77		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187078777	187078777	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:187078777C>T	uc003iyt.4	+	7	1212	c.633C>T	c.(631-633)ctC>ctT	p.L211L	FAM149A_uc011cla.1_Silent_p.L211L|FAM149A_uc010isj.2_Silent_p.L211L|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc010isl.3_Silent_p.L211L|FAM149A_uc011clb.2_Silent_p.L211L	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	502										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGCACGTCCTCGTTCCACACG	0.542000														46			37		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845834	123845834	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:123845834G>A	uc001lfv.3	+	3	4179	c.3819G>A	c.(3817-3819)gaG>gaA	p.E1273E	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.E1273E|TACC2_uc010qtv.2_Silent_p.E1273E	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1273						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGTAGGGGAGCCCCCACTTG	0.602000														32			17		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876092	154876092	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:154876092C>T	uc003wlu.1	+	1	1033	c.969C>T	c.(967-969)ttC>ttT	p.F323F		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	323						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AAAGCATCTTCCTGTGGCTTG	0.507000														90			39		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100175351	100175351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100175351G>A	uc003uvj.3	-	8	1105	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	351					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCTGCACAGGGTCTCCGTC	0.657000														90			40		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952307	85952307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:85952307C>T	uc002fjh.3	+	6	943	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	296					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GTGCCAGGGCCGCGTGTTCTG	0.662000														18			10		0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749306	234749306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:234749306G>A	uc002vvg.3	-	7	2186	c.2120C>T	c.(2119-2121)aCc>aTc	p.T707I	HJURP_uc010znd.2_Missense_Mutation_p.T646I|HJURP_uc010zne.2_Missense_Mutation_p.T615I	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	707					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CGGTCTGACGGTGTTGTCCAC	0.562000														64			45		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313844	41313846	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:41313844_41313846GA>AT	uc003jmm.1	-	2	941_943	c.839_841TC>AT	c.(838-843)gtccgc>gATgc	p.280_281VR>D		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	280					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCTGCGTGCGGACCCACTGCAT	0.429000														26			7		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88815087	88815087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:88815087G>A	uc010iko.1	+	3	1714	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		GGCAGCAGAGGAACCCAGTGA	0.502000														87			96		0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586509	20586509	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20586509C>T	uc001vwo.1	+	0	944	c.944C>T	c.(943-945)cCa>cTa	p.P315L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P315Q(2)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTTGAATCCAATTATCTAT	0.348000														13			8		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739427	55739427	+	Silent	SNP	G	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55739427G>T	uc003pcq.3	-	0	949	c.237C>A	c.(235-237)ctC>ctA	p.L79L	BMP5_uc011dxf.2_Silent_p.L79L	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	79					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCAGCATAAAGAGAGGTGCAG	0.473000														49			45		2.79147e-13	2.80498e-13	1	1	0
PTPN22	26191	broad.mit.edu	37	1	114391169	114391169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:114391169C>T	uc001eds.3	-	10	1038	c.908G>A	c.(907-909)gGa>gAa	p.G303E	PTPN22_uc021orx.1_Missense_Mutation_p.G303E|PTPN22_uc009wgq.3_Intron|PTPN22_uc021ory.1_Missense_Mutation_p.G279E|PTPN22_uc010owo.2_Missense_Mutation_p.G59E|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.G303E|PTPN22_uc009wgs.2_Missense_Mutation_p.G176E|PTPN22_uc001edu.2_Missense_Mutation_p.G303E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	303					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTCTGTTCCAGAATGTTT	0.333000														102			91		0	0	1	0	0
UCN3	114131	broad.mit.edu	37	10	5415840	5415840	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:5415840C>T	uc001ihx.1	+	1	381	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L		NM_053049	NP_444277	Q969E3	UCN3_HUMAN	Homo sapiens urocortin 3 (stresscopin) (UCN3), mRNA.	53						extracellular region	hormone activity			endometrium(1)|large_intestine(1)	2						GGATGCATCCCTGCTGAGCAA	0.592000														17			5		0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233575	36233575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:36233575G>A	uc002obg.3	-	7	914	c.605C>T	c.(604-606)tCc>tTc	p.S202F	IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_Intron|U2AF1L4_uc002obe.3_3'UTR|U2AF1L4_uc002obf.3_Missense_Mutation_p.S178F|U2AF1L4_uc002obh.1_3'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA.	0					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCCTGCCAGGAACATCTGTC	0.592000														62			35		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651486	7651486	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:7651486C>T	uc001qsz.3	-	3	884	c.756G>A	c.(754-756)gaG>gaA	p.E252E	CD163_uc001qta.3_Silent_p.E252E|CD163_uc009zfw.2_Silent_p.E252E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	252	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTCCAGCATCCTCAGCATGAT	0.428000														105			52		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72408111	72408111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72408111G>A	uc001osu.3	-	21	3272	c.3083C>T	c.(3082-3084)tCc>tTc	p.S1028F	ARAP1_uc001osv.3_Missense_Mutation_p.S1028F|ARAP1_uc001osr.3_Missense_Mutation_p.S788F|ARAP1_uc001oss.3_Missense_Mutation_p.S783F|ARAP1_uc009yth.3_Missense_Mutation_p.S722F|ARAP1_uc010rre.2_Missense_Mutation_p.S783F	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1028	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGCGCCGAGGAAACATCATC	0.667000														36			41		0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135939861	135939861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:135939861C>T	uc010naa.1	+	1	162	c.146C>T	c.(145-147)tCt>tTt	p.S49F		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	46	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CTGGGTGACTCTGTGGACATC	0.632000														40			21		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528873	76528873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:76528873C>T	uc002fex.1	+	12	2295	c.2156C>T	c.(2155-2157)tCg>tTg	p.S719L	CNTNAP4_uc002feu.1_Missense_Mutation_p.S715L|CNTNAP4_uc002fev.1_Missense_Mutation_p.S580L|CNTNAP4_uc010chb.1_Missense_Mutation_p.S643L|CNTNAP4_uc002few.2_Missense_Mutation_p.S691L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	716	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S691L(2)|p.S643L(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GGAGGTTCTTCGCCTGATCTT	0.423000														72			57		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176845688	176845688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176845688C>T	uc001glc.3	-	20	3660	c.3448G>A	c.(3448-3450)Gat>Aat	p.D1150N	ASTN1_uc001glb.1_Missense_Mutation_p.D1150N|ASTN1_uc001gld.1_Missense_Mutation_p.D1150N	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1158					cell migration|neuron cell-cell adhesion	integral to membrane		p.D1149Y(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCTTGACATCATCCACCACG	0.577000														69			20		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336210	147336210	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:147336210G>A	uc003weu.2	+	12	2426	c.1910G>A	c.(1909-1911)tGg>tAg	p.W637*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	637	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.W637*(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACAAAGTGTGGACCATAGTG	0.463000										HNSCC(39;0.1)				54			22		0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	808727	808727	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:808727C>T	uc002lpr.2	+	11	1456	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	PTBP1_uc002lps.2_Silent_p.F116F|PTBP1_uc002lpp.2_Silent_p.F476F|PTBP1_uc002lpq.2_Silent_p.F469F	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	450					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGAACATATTCCCGCCCTCGG	0.672000														11			11		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854524	12854524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:12854524G>A	uc001auj.2	+	2	851	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	250										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGATAATGAACTCCAAGG	0.443000														41			70		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371563	126371563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:126371563G>A	uc003ifj.4	+	8	9392	c.9392G>A	c.(9391-9393)gGa>gAa	p.G3131E	FAT4_uc011cgp.2_Missense_Mutation_p.G1429E|FAT4_uc003ifi.1_Missense_Mutation_p.G609E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3131	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTCTTCAGGAAATGAAGAA	0.398000														33			31		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140218300	140218300	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:140218300G>A	uc004cmp.2	-	18	2257	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	EXD3_uc010ncf.1_Silent_p.A338A	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	687					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCCCGACCTGGGCCCGGAGCT	0.692000														12			13		0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72879317	72879317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:72879317C>T	uc004ahr.2	+	1	400	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	95					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TGCCATTTGCCTTGGTTTAGC	0.383000														78			30		0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113758480	113758480	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:113758480G>A	uc001tvc.3	-	5	642	c.432C>T	c.(430-432)ttC>ttT	p.F144F	SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_5'UTR	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	144					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CAAATGCCAGGAAGGTGACGC	0.637000														17			4		0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57838006	57838006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:57838006C>T	uc002qoi.2	+	2	508	c.151C>T	c.(151-153)Cct>Tct	p.P51S		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACAGGCTGTCCTTTGTTCAA	0.488000														35			19		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667138	50667138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:50667138C>T	uc002egg.2	+	9	1083	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	287					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGAACTGCCCCCCCGCACCTC	0.597000														56			39		0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766497	27766497	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:27766497C>T	uc011mjy.2	+	0	1572	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F		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						GGCACATCTTCTTCTGGGAGA	0.458000														2			3		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95164179	95164179	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:95164179G>A	uc003ygh.2	-	12	1838	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	CDH17_uc011lgo.1_Silent_p.F357F|CDH17_uc011lgp.1_Silent_p.F571F	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	571	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTTCGCTTGGAATACGTGTT	0.448000														45			50		0	0	1	0	0
KLRAP1	10748	broad.mit.edu	37	12	10750659	10750659	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:10750659C>T	uc010shf.2	-	1		c.464G>A			KLRAP1_uc010shg.2_Non-coding_Transcript|KLRAP1_uc009zho.3_Non-coding_Transcript|KLRAP1_uc009zhn.3_Non-coding_Transcript					Homo sapiens killer cell lectin-like receptor subfamily A pseudogene 1 (KLRAP1), non-coding RNA.											breast(1)|large_intestine(1)|lung(1)	3						ATCAGTTTTCCCAGGCCTTTG	0.368000														66			54		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309759	24309759	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:24309759G>A	uc002nru.3	+	3	1091	c.957G>A	c.(955-957)aaG>aaA	p.K319K	ZNF254_uc010xrk.2_Silent_p.K234K	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	319					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATACTAGAAAGAAACCCTACA	0.388000														26			24		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212435	26212435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:26212435G>A	uc022buc.1	+	0	472	c.472G>A	c.(472-474)Gat>Aat	p.D158N	MAGEB6_uc004dbr.3_Missense_Mutation_p.D158N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	158	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTCGCCTGATGCAGGTGT	0.512000														5			15		0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48631188	48631188	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:48631188C>T	uc002pia.1	-	19	2031	c.1911G>A	c.(1909-1911)gtG>gtA	p.V637V	LIG1_uc010xze.1_Silent_p.V330V|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.V569V|LIG1_uc010xzg.1_Silent_p.V606V	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	637					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.Q636K(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGGTGGTGAGCACTTGGAATG	0.577000								Nucleotide excision repair (NER)						165			101		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374336	6374336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:6374336G>A	uc003gja.3	-	4	563	c.539C>T	c.(538-540)tCc>tTc	p.S180F	PPP2R2C_uc003gjb.3_Missense_Mutation_p.S163F|PPP2R2C_uc003gjc.3_Missense_Mutation_p.S180F|PPP2R2C_uc011bwd.2_Missense_Mutation_p.S173F|PPP2R2C_uc011bwe.2_Missense_Mutation_p.S173F|PPP2R2C_uc003gjd.1_Missense_Mutation_p.S268F	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	180					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						ACTGTTGACGGAGATGGAGTT	0.572000														168			56		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21396374	21396374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:21396374G>A	uc001unq.4	-	7	931	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	299					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGGCAAGGCACTGCAGA	0.373000														48			54		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8982210	8982210	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:8982210C>A	uc002mkp.3	-	69	42269	c.42065G>T	c.(42064-42066)gGc>gTc	p.G14022V	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G839V|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14047	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCGGGTGATGCCATGGGTCTG	0.637000														31			19		3.8784e-16	3.90528e-16	1	1	0
SVEP1	79987	broad.mit.edu	37	9	113170295	113170295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:113170295G>A	uc010mtz.3	-	37	7922	c.7585C>T	c.(7585-7587)Cgg>Tgg	p.R2529W	SVEP1_uc010mty.3_Missense_Mutation_p.R455W	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2529	Sushi 19.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			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						CCTTCGAGCCGAAAGCCTCGG	0.498000														19			6		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891699	148891699	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:148891699C>T	uc009wkv.1	+	8		c.1001C>T								Homo sapiens cDNA, FLJ17483.																		TCCAGACATCCAATCAGAACA	0.363000														81			11		0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334773	33334773	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:33334773G>A	uc002ntv.4	-	9	1179	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Silent_p.A354A|SLC7A9_uc021usa.1_Silent_p.A354A|SLC7A9_uc002ntw.4_Silent_p.A145A	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	354			A -> T (in CSNU; type III; severe loss of amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.A354T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAAAGATGATGGCGGGGGCTG	0.552000														26			16		0	0	1	0	0
SERINC5	256987	broad.mit.edu	37	5	79498805	79498805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:79498805G>A	uc011ctj.2	-	1	252	c.95C>T	c.(94-96)tCc>tTc	p.S32F	SERINC5_uc003kgj.3_Missense_Mutation_p.S32F|SERINC5_uc003kgm.3_Missense_Mutation_p.S32F|SERINC5_uc003kgk.3_Missense_Mutation_p.S32F|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	32					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGTGCTGAGGGACTGCCGAAT	0.552000														27			7		0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183815719	183815719	+	Missense_Mutation	SNP	G	A	A	rs17849458		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:183815719G>A	uc003ivf.3	-	3	458	c.284C>T	c.(283-285)tCg>tTg	p.S95L	DCTD_uc003ivg.3_Missense_Mutation_p.S106L|DCTD_uc010irw.3_Missense_Mutation_p.S36L|DCTD_uc003ivh.3_Missense_Mutation_p.S36L	NM_001921	NP_001912	P32321	DCTD_HUMAN	Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA.	95				S -> L (in Ref. 6; AAH01286).	nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.S95L(2)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		CACATCGGTCGAATTTTTGTT	0.438000														67			20		0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57764906	57764906	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:57764906T>A	uc010ygt.2	+	3	926	c.719T>A	c.(718-720)tTt>tAt	p.F240Y	ZNF805_uc010ygu.2_Missense_Mutation_p.F107Y|ZNF805_uc021vcj.1_Missense_Mutation_p.F107Y	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GGAAAAACCTTTAGCAAGAGT	0.478000														11			4		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160032940	160032940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:160032940G>A	uc002uag.3	+	12	2087	c.1813G>A	c.(1813-1815)Gga>Aga	p.G605R	TANC1_uc010fol.1_Missense_Mutation_p.G499R|TANC1_uc010zcm.2_Missense_Mutation_p.G597R|TANC1_uc010fom.1_Missense_Mutation_p.G411R	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	605						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGATTATGGAGATACGCT	0.303000														24			11		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023880	32023880	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32023880G>A	uc003nzl.2	-	23	8417	c.8215C>T	c.(8215-8217)Ctg>Ttg	p.L2739L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2797	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCTCCCCCAGGAGCGGCTCC	0.627000														65			54		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115130016	115130016	+	Missense_Mutation	SNP	C	T	T	rs139442561		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:115130016C>T	uc001efd.1	-	19	3449	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R859Q	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	916										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-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)		ACCAAGACTCCGCAAAATTCT	0.468000														164			164		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002676	122002676	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:122002676C>T	uc003eew.4	+	6	2343	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CASR_uc003eev.4_Silent_p.F625F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	625					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGGCATTTTCCTGACAGCCT	0.552000														47			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773326	140773326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140773326G>A	uc003lkd.2	+	0	1844	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	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_Missense_Mutation_p.E316K|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	317	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)			TTCATTTTATGAAATGGAAAT	0.358000														181			55		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874250	144874250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:144874250G>A	uc003yzp.1	-	32	4575	c.4568C>T	c.(4567-4569)tCc>tTc	p.S1523F	SCRIB_uc003yzn.1_Missense_Mutation_p.S256F|SCRIB_uc003yzo.1_Missense_Mutation_p.S1523F	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1523					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCTTCCTGGGACCTGCTGAG	0.687000														19			4		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22777493	22777493	+	Silent	SNP	C	T	T	rs139683102		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:22777493C>T	uc009yie.3	+	6	1023	c.717C>T	c.(715-717)ttC>ttT	p.F239F	GAS2_uc001mqm.3_Silent_p.F239F|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Silent_p.F239F	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	239	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGATCCTCTTCATTAGGGTAA	0.398000														13			14		0	0	1	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128975787	128975787	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:128975787G>A	uc004euv.3	-	1	597	c.135C>T	c.(133-135)atC>atT	p.I45I	ZDHHC9_uc004euw.3_Silent_p.I45I|ZDHHC9_uc004eux.1_Silent_p.I45I|ZDHHC9_uc004euy.1_Intron	NM_001008222	NP_057116	Q9Y397	ZDHC9_HUMAN	Homo sapiens zinc finger, DHHC-type containing 9 (ZDHHC9), transcript variant 2, mRNA.	45						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						ATGTCCCCAGGATGAGGAAAA	0.502000														17			45		0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7846733	7846733	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7846733C>T	uc002gjp.3	+	10	2286	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	CNTROB_uc002gjq.3_Nonsense_Mutation_p.Q446*|CNTROB_uc002gjr.3_Nonsense_Mutation_p.Q348*|CNTROB_uc010vum.1_Nonsense_Mutation_p.Q158*	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	446	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCAGCGGATCCAGCTGGAGTC	0.592000														31			36		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926949	1926949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:1926949C>T	uc002qxe.3	-	9	1419	c.592G>A	c.(592-594)Gat>Aat	p.D198N	MYT1L_uc002qxd.3_Missense_Mutation_p.D198N|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	198					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCAGTTCATCGTAATTGTCA	0.408000														13			14		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657825	34657825	+	Silent	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:34657825A>G	uc001zig.3	-	1	286	c.192T>C	c.(190-192)ttT>ttC	p.F64F	LPCAT4_uc010bav.1_Silent_p.F64F	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	64					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GAAGCCAGGCAAAGGGCCAGA	0.572000														46			16		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10861488	10861488	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:10861488C>T	uc003bvz.3	+	2	517	c.483C>T	c.(481-483)tgC>tgT	p.C161C	SLC6A11_uc003bvy.1_Silent_p.C161C	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	161					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGAGCAACTGCTTCACTACTG	0.532000														118			37		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703764	66703764	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:66703764C>T	uc001sti.2	+	3	1084	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	352					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTGTGTCTTCCCTTATGACC	0.413000														116			74		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671179	49671179	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:49671179C>T	uc002pmw.3	+	3	381	c.273C>T	c.(271-273)ctC>ctT	p.L91L	TRPM4_uc010emu.3_Silent_p.L91L|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Intron|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	91					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CACAGTTCCTCCGGCTCTCTG	0.627000														85			43		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5010977	5010977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:5010977G>A	uc001lzv.3	+	1	217	c.199G>A	c.(199-201)Gac>Aac	p.D67N		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	67					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAATGGGACAGACCTACTTGA	0.532000														33			15		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390564	158390564	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158390564G>A	uc010pii.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGAGGAGCAGGAAGATAACAA	0.527000														20			39		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86959195	86959195	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:86959195C>T	uc001dlt.3	+	9	1853	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L	CLCA1_uc001dls.1_Silent_p.L470L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	531					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AAATCCTTCTCTGGGATCCCA	0.507000														39			39		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066484	67066484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:67066484G>A	uc003xvv.3	+	8	1665	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	TRIM55_uc003xvu.3_Missense_Mutation_p.R480Q|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	480						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.R480W(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TCGAATGTACGGAAGGCAGAA	0.567000														45			22		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406282	38406282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38406282G>A	uc003jlc.2	+	6	1113	c.767G>A	c.(766-768)gGa>gAa	p.G256E	EGFLAM_uc003jlb.2_Missense_Mutation_p.G256E|EGFLAM_uc003jle.2_Missense_Mutation_p.G22E|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	256						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACCGACATGGGAGCTGGTGAG	0.483000														81			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725369	106725369	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:106725369C>T	uc021ser.1	-	927		c.22143G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.582000														130			85		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6975226	6975226	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:6975226G>A	uc001qri.4	+	19	2621	c.2562G>A	c.(2560-2562)caG>caA	p.Q854Q	USP5_uc001qrh.4_Silent_p.Q831Q|TPI1_uc001qrk.3_5'Flank|TPI1_uc010sfo.2_5'Flank	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	854					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACTTCTACCAGAGAGTGGCCA	0.577000														35			11		0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733037	144733037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:144733037C>T	uc003yzd.2	+	0	1084	c.995C>T	c.(994-996)tCa>tTa	p.S332L	ZNF623_uc011lkp.1_Missense_Mutation_p.S292L|ZNF623_uc003yzc.2_Missense_Mutation_p.S292L	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATTCGGAGTTCAAAGCTCATT	0.493000														57			42		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101561890	101561890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:101561890G>A	uc001thz.4	-	10	1694	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	435					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTTGGCAAAGGGAACCAAAAT	0.398000														8			4		0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66335115	66335115	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66335115G>A	uc001oip.3	-	2	421	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	111					proteolysis	lysosome	cysteine-type endopeptidase activity	p.L111V(2)		endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTCATCCAGGACTTGGAAG	0.612000														46			85		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546782	34546782	+	Silent	SNP	G	A	A	rs146726039		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:34546782G>A	uc001zhw.3	-	7	1049	c.885C>T	c.(883-885)atC>atT	p.I295I	SLC12A6_uc001zhv.3_Silent_p.I244I|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.I280I|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.I236I|SLC12A6_uc001zib.3_Silent_p.I286I|SLC12A6_uc001zic.3_Silent_p.I295I|SLC12A6_uc010bau.3_Silent_p.I295I|SLC12A6_uc001zid.3_Silent_p.I236I|SLC12A6_uc001zhu.3_Silent_p.I107I	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	295					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCGGGGGACGATATAGACCT	0.383000														26			10		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403767	47403767	+	Missense_Mutation	SNP	C	T	T	rs145173494	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:47403767C>T	uc001cqp.4	-	1	289	c.238G>A	c.(238-240)Gag>Aag	p.E80K	CYP4A11_uc001cqq.2_Missense_Mutation_p.E80K|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	80					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGGAATGTCTCCACCCATTTC	0.488000														111			40		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841610	94841610	+	Missense_Mutation	SNP	G	A	A	rs149237812	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:94841610G>A	uc002btj.3	+	0	181	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	MCTP2_uc010urg.1_Missense_Mutation_p.R39Q|MCTP2_uc002bti.2_Missense_Mutation_p.R39Q|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.R39Q|MCTP2_uc002btg.4_Missense_Mutation_p.R39Q|MCTP2_uc002bth.4_Missense_Mutation_p.R39Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	39					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCAGATCTACGGGCAAGGCAT	0.572000														28			21		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564271	142564271	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142564271C>G	uc011kst.2	+	9	2282	c.1495C>G	c.(1495-1497)Cgg>Ggg	p.R499G	EPHB6_uc011ksu.2_Missense_Mutation_p.R499G|EPHB6_uc003wbs.3_Missense_Mutation_p.R207G|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.R207G|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	499	Fibronectin type-III 2.		R -> Q (in dbSNP:rs8177175).			extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAGGTGAGCCGGGCATCCAA	0.582000														63			34		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656650	8656650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:8656650C>T	uc010cnz.1	-	4	820	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	215										breast(1)|endometrium(2)|kidney(1)	4						TCCTCCATCTCCTCTGGGGAA	0.612000														5			3		0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278590	94278590	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:94278590T>A	uc001pez.3	+	0	1574	c.1291T>A	c.(1291-1293)Ttg>Atg	p.L431M	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	431					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCGCAACGCGTTGCTCGCTGG	0.622000														27			10		0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37650494	37650494	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:37650494C>T	uc002xjh.3	+	15	1539	c.1509C>T	c.(1507-1509)ggC>ggT	p.G503G	DHX35_uc010zwa.2_Silent_p.G348G|DHX35_uc010zwc.2_Silent_p.G472G|DHX35_uc010zwb.2_Silent_p.G348G	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	503						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.G503C(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAAACTTCGGCTGTTCTCAGG	0.428000														129			110		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136327	103136327	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:103136327G>A	uc002tbz.4	+	8	2188	c.1731G>A	c.(1729-1731)agG>agA	p.R577R		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	577					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGGCCCAGAGGATACAAGGAA	0.453000														29			20		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175054588	175054588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:175054588G>A	uc001gkl.1	+	5	1395	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R	TNN_uc010pmx.1_Missense_Mutation_p.G428R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	428	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCATGAGAGGAGAGCTGGA	0.542000														13			21		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57136835	57136835	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57136835G>A	uc001nju.3	+	11	1187	c.1003_splice	c.e11-1	p.G335_splice		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	335					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CTCCTCCAGGGAACTGTTCTC	0.627000														158			61		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001090	142001090	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142001090A>T	uc011kro.1	+	1	227	c.182A>T	c.(181-183)aAa>aTa	p.K61I	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTGGGGCAGAAAGTCGAGTTT	0.398000														10			5		0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77727910	77727910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:77727910G>A	uc001oyw.4	-	1	522	c.497C>T	c.(496-498)tCc>tTc	p.S166F	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	166						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAGCACGCTGGACTTCCGTGC	0.527000														117			49		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		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.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				114			139		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050768	110050768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:110050768G>A	uc021org.1	-	0	767	c.767C>T	c.(766-768)tCc>tTc	p.S256F	AMIGO1_uc001dxx.4_Missense_Mutation_p.S256F	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	256	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTTCTTGGAGTTCATGCA	0.527000														89			32		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504139	110504139	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:110504139G>A	uc003yne.3	+	61	10256	c.10152G>A	c.(10150-10152)ggG>ggA	p.G3384G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3384					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R3383Q(1)		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)			GAGTCCGAGGGAATTTGATTG	0.383000										HNSCC(38;0.096)				16			7		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49052843	49052843	+	Silent	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:49052843T>C	uc003gyv.3	+	14	2180	c.1998T>C	c.(1996-1998)tcT>tcC	p.S666S	CWH43_uc011bzl.2_Silent_p.S639S	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	666					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGAAGTTTCTGAGAAAATTC	0.388000														34			25		0	0	1	0	0
NAGS	162417	broad.mit.edu	37	17	42084743	42084744	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:42084743_42084744GG>AA	uc010czn.3	+	4	1149_1150	c.1149_1150GG>AA	c.(1147-1152)ctggac>ctAAac	p.D384N	PYY_uc002ieq.3_5'Flank|NAGS_uc002ies.3_Missense_Mutation_p.D384N|NAGS_uc002iet.3_Missense_Mutation_p.D8N	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	384	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	TGCGCAGCCTGGACAAGCTGGA	0.668000											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			22		0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681356	44681356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:44681356C>T	uc003bet.2	-	3	684	c.551G>A	c.(550-552)gGa>gAa	p.G184E		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	184						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GTGAGCATCTCCCCGCAATGT	0.642000														79			33		0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058075	46058075	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:46058075G>A	uc002zfq.3	+	0	803	c.741G>A	c.(739-741)caG>caA	p.Q247Q	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	247						keratin filament		p.Q247H(2)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCTCTGGCCAGAAGTCCAGCT	0.672000														42			22		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884059	38884059	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38884059G>A	uc003jln.2	+	4	951	c.549G>A	c.(547-549)ggG>ggA	p.G183G	OSMR_uc003jlm.2_Silent_p.G183G	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	183					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATTTGGAAGGGAAACAGATTC	0.368000														107			60		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020485	32020485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32020485C>T	uc003nzl.2	-	25	9273	c.9071G>A	c.(9070-9072)gGg>gAg	p.G3024E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3071	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGCGCTGCCCCTCGTGGAG	0.657000														97			53		0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131605022	131605022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:131605022G>A	uc004bwh.3	-	2	297	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.P38S|CCBL1_uc004bwj.3_Missense_Mutation_p.P38S|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.P132S	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	38					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GGGAAATCCGGGAAGCCCTGG	0.542000														36			14		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673126	20673126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20673126C>T	uc002dhm.1	-	5	1050	c.982G>A	c.(982-984)Gat>Aat	p.D328N	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.D328N	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	328					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTGGTGAAATCCTGCTGCAGA	0.373000														33			24		0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55854202	55854202	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55854202C>T	uc002qkj.4	+	3	617	c.369C>T	c.(367-369)atC>atT	p.I123I	SUV420H2_uc010esx.1_Silent_p.I123I|SUV420H2_uc002qkk.1_Silent_p.I123I|SUV420H2_uc002qkl.3_Silent_p.I8I	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	123	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCCAAGATCGTGTCCACTC	0.587000														44			27		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38463945	38463945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38463945G>A	uc003jlc.2	+	22	3257	c.2911G>A	c.(2911-2913)Gaa>Aaa	p.E971K	EGFLAM_uc003jlb.2_Missense_Mutation_p.E963K|EGFLAM_uc003jle.2_Missense_Mutation_p.E729K|EGFLAM_uc003jlf.2_Missense_Mutation_p.E329K|EGFLAM_uc003jlg.2_Missense_Mutation_p.E106K|EGFLAM_uc003jlh.2_Missense_Mutation_p.E53K	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	971	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.E963K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGAATGAAGGAAATTGCTCT	0.537000														84			48		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324073	61324073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61324073G>A	uc002lji.3	-	6	904	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	SERPINB3_uc002ljg.3_Missense_Mutation_p.L254F|SERPINB3_uc010dqa.3_Intron	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	254					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCTTCTGGAGACCATCGATT	0.428000														166			44		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180039512	180039512	+	Silent	SNP	G	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:180039512G>C	uc003mlz.4	-	25	3610	c.3531C>G	c.(3529-3531)ggC>ggG	p.G1177G	FLT4_uc003mma.4_Silent_p.G1177G	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1177					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|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)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCACTTGCAGGCCCCTGCCCT	0.662000														77			27		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212767	55212767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:55212767C>T	uc003jql.3	+	14	2306	c.2114C>T	c.(2113-2115)tCg>tTg	p.S705L	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.S686L|IL31RA_uc003jqo.3_Missense_Mutation_p.S563L	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	673					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TACCTACGTTCGAGGATGCCA	0.527000														73			20		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107343	168107343	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:168107343G>A	uc002udx.3	+	8	9530	c.9441G>A	c.(9439-9441)aaG>aaA	p.K3147K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2972K|XIRP2_uc010fpq.3_Silent_p.K2925K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2972					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCCTAAAAAGGACAGTTATG	0.468000														21			14		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85742679	85742679	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:85742679G>A	uc003hpd.3	-	10	1557	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	WDFY3_uc003hpf.3_Silent_p.A383A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	383						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTGCAAAGGCCTGGACGT	0.363000														35			34		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23883076	23883076	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23883076G>A	uc001wjx.3	-	38	5788	c.5682C>T	c.(5680-5682)tcC>tcT	p.S1894S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1894					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCGGAACTTGGACAGGTTGG	0.637000														66			34		0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30231314	30231314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:30231314G>A	uc002wwj.1	+	3	430	c.355G>A	c.(355-357)Gtg>Atg	p.V119M		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	119					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGCAGCTCTGGTGATTTGGTG	0.537000														41			33		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041240	107041240	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:107041240A>T	uc010ywi.1	-	19	3240	c.3183T>A	c.(3181-3183)taT>taA	p.Y1061*		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1061	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCCCCTGTGAATACAGAACTT	0.393000														229			110		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687013	37687013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:37687013C>T	uc010cvv.3	+	13	4503	c.3917C>T	c.(3916-3918)tCc>tTc	p.S1306F	CDK12_uc002hrw.4_Missense_Mutation_p.S1297F	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1306					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAACTTTTATCCCAGCCTGAA	0.617000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				197			50		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45012130	45012130	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:45012130G>A	uc010zxr.1	-	9	891	c.681C>T	c.(679-681)tcC>tcT	p.S227S	ELMO2_uc002xrs.1_5'Flank|ELMO2_uc002xrt.1_Silent_p.S227S|ELMO2_uc002xru.1_Silent_p.S227S|ELMO2_uc010zxs.1_Silent_p.S44S|ELMO2_uc002xrw.3_Silent_p.S44S|ELMO2_uc002xrx.1_Silent_p.S227S	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	227					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTCCTGGTTGGAGCTGTGTC	0.423000														61			25		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588709	20588709	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:20588709C>T	uc001ytg.3	-	27	4061	c.3352_splice	c.e27-1	p.E1118_splice	HERC2P3_uc010tyx.1_Splice_Site					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GACATTCTTTCCTGAAAAATA	0.299000														57			9		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570348	55570348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:55570348C>T	uc021pqw.1	-	34	4875	c.4480G>A	c.(4480-4482)Ggt>Agt	p.G1494S	PCDH15_uc010qhq.2_Missense_Mutation_p.G1487S|PCDH15_uc010qhr.2_Missense_Mutation_p.G1482S|PCDH15_uc021pqv.1_Silent_p.L1507L|PCDH15_uc010qht.2_Missense_Mutation_p.G1489S|PCDH15_uc021pqx.1_Silent_p.L1505L	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAGCTTCACCAACCACCTCA	0.373000										HNSCC(58;0.16)				84			36		0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18750520	18750521	+	Missense_Mutation	DNP	GC	AT	AT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:18750520_18750521GC>AT	uc001mpd.3	-	14	2089_2090	c.1658_1659GC>AT	c.(1657-1659)agc>aAT	p.S553N	IGSF22_uc009yht.2_5'Flank|IGSF22_uc001mpa.2_5'Flank|PTPN5_uc001mpb.3_Missense_Mutation_p.S521N|PTPN5_uc001mpc.3_Missense_Mutation_p.S553N|PTPN5_uc010rdj.2_Missense_Mutation_p.S497N|PTPN5_uc001mpf.3_Missense_Mutation_p.S529N|PTPN5_uc001mpe.3_Missense_Mutation_p.S521N|PTPN5_uc010rdk.2_Missense_Mutation_p.S498N	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	553	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TTTCGTAGAGGCTCATGACGTG	0.619000														105			35		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58575454	58575454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:58575454G>A	uc002env.3	-	33	5044	c.4751C>T	c.(4750-4752)cCt>cTt	p.P1584L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P1579L|CNOT1_uc010vik.2_Missense_Mutation_p.P541L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1584					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCATTTGTAGGTAAGAAGCC	0.393000														59			37		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515406	56515406	+	Silent	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:56515406C>A	uc002qmj.3	+	1	387	c.387C>A	c.(385-387)atC>atA	p.I129I	NLRP5_uc002qmi.3_Silent_p.I129I	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	129	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCATTAGCATCTTTGAAAACA	0.507000														28			18		8.28177e-16	8.33339e-16	1	1	0
SLC43A1	8501	broad.mit.edu	37	11	57256811	57256811	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57256811G>A	uc001nkk.3	-	11	1366	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	SLC43A1_uc001nkl.3_Silent_p.L416L	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	416					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGGCATTGGTGAGCTTTTGGA	0.542000														141			37		0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65350440	65350440	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:65350440G>A	uc003juk.2	+	20	3604	c.3294G>A	c.(3292-3294)caG>caA	p.Q1098Q	ERBB2IP_uc011cqx.2_Silent_p.Q1098Q|ERBB2IP_uc003jui.2_Silent_p.Q1098Q|ERBB2IP_uc003jul.2_Silent_p.Q1094Q|ERBB2IP_uc011cqy.2_Silent_p.Q1098Q|ERBB2IP_uc003juj.2_Silent_p.Q1098Q|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Silent_p.Q1094Q	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1098					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCGGGCTCAGATTCCTGAAG	0.478000														58			19		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38523535	38523535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:38523535C>T	uc010ive.1	-	4	879	c.547G>A	c.(547-549)Gag>Aag	p.E183K	LIFR_uc003jli.2_Missense_Mutation_p.E183K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	183					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTACGAGCTCCATACTCTCT	0.343000			T	PLAG1	salivary adenoma									108			53		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151859299	151859299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:151859299G>A	uc003wla.3	-	42	11582	c.11363C>T	c.(11362-11364)tCt>tTt	p.S3788F	MLL3_uc003wkz.3_Missense_Mutation_p.S2849F|MLL3_uc003wky.3_Missense_Mutation_p.S1297F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3788					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)		ATTCAAAAGAGAAGATGACTT	0.433000			N		medulloblastoma									9			10		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98111145	98111145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:98111145C>T	uc001kmj.3	-	2	501	c.62G>A	c.(61-63)gGg>gAg	p.G21E	OPALIN_uc010qor.2_Missense_Mutation_p.G11E|OPALIN_uc001kmi.3_Missense_Mutation_p.G11E|OPALIN_uc001kmk.3_Intron|OPALIN_uc010qos.2_Intron	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	21						Golgi apparatus|integral to membrane|plasma membrane		p.G21W(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CGTTTCTTTCCCACCTGTGAC	0.323000														45			20		0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279104	2279104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:2279104G>A	uc003slm.3	-	1	276	c.247C>T	c.(247-249)Cct>Tct	p.P83S	FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	83	S-adenosyl-L-methionine binding.				cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CAGGCCCCAGGAGCTGCCCCA	0.647000														7			6		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66466947	66466947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66466947G>A	uc001ojd.3	-	16	3778	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1236					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ACCAGCTGGCGGCCAGCCTCC	0.552000														52			50		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25071603	25071603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:25071603G>A	uc001mqs.3	+	9	1059	c.785G>A	c.(784-786)gGa>gAa	p.G262E	LUZP2_uc009yif.3_Missense_Mutation_p.G176E|LUZP2_uc009yig.3_Missense_Mutation_p.G220E	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	262						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGTGCTTCTGGAAACAATGAG	0.358000														33			35		0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089604	10089604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:10089604C>T	uc003buw.3	+	15	1360	c.1282C>T	c.(1282-1284)Ctt>Ttt	p.L428F	FANCD2_uc003bux.1_Missense_Mutation_p.L428F|FANCD2_uc003buy.1_Missense_Mutation_p.L428F|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	428					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACTCAAGGTTCTTAAGGATAT	0.413000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					165			91		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751676	19751676	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:19751676G>A	uc009zzj.3	-	3	552	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	149					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCAGAGATGCGAACCCAGAGC	0.567000														56			69		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834659	125834659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:125834659G>A	uc001uhe.1	+	1	722	c.714G>A	c.(712-714)tgG>tgA	p.W238*	TMEM132B_uc021rgl.1_Nonsense_Mutation_p.W128*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	238						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGCAAGTGGGAGAACAATA	0.597000														32			17		0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925050	4925050	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrY:4925050C>T	uc004fqo.3	+	0	920	c.186C>T	c.(184-186)atC>atT	p.I62I	PCDH11Y_uc010nwg.1_Silent_p.I51I|PCDH11Y_uc004fql.1_Silent_p.I51I|PCDH11Y_uc004fqm.1_Silent_p.I51I|PCDH11Y_uc004fqn.1_Silent_p.I62I	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	62	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTACACCATCCGAGAAGAAA	0.463000														6			17		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516445	195516445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:195516445G>A	uc021xjp.1	-	1	2162	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S551F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	674					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGAAGGAAGAACCTGGGGT	0.577000														64			52		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745484	135745484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:135745484C>T	uc002tue.1	-	6	989	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E207K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.E48K|YSK4_uc002tui.4_Missense_Mutation_p.E337K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	320							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGAGTGATTTCAATTTTGTTA	0.398000														26			12		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034682	16034682	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:16034682G>A	uc002nbu.2	-	6	894	c.858C>T	c.(856-858)ttC>ttT	p.F286F	CYP4F11_uc010eab.1_Silent_p.F286F|CYP4F11_uc002nbt.2_Silent_p.F286F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	286					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.F286S(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGTTCTTGAGGAAATCATCAA	0.532000														76			34		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965595	102965595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:102965595G>A	uc002tbu.1	+	9	1445	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	392	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATCCAGTACAGATGGGGCCAG	0.388000														56			34		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107178951	107178951	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:107178951C>T	uc021ser.1	-	37		c.2387G>A								Parts of antibodies, mostly variable regions.																		TATTTATCATCATCCCAATCA	0.517000														26			20		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678374	73678375	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:73678374_73678375GG>AA	uc002sje.1	+	7	4828_4829	c.4717_4718GG>AA	c.(4717-4719)gga>AAa	p.G1573K	ALMS1_uc002sjf.1_Missense_Mutation_p.G1531K|ALMS1_uc002sjg.3_Missense_Mutation_p.G961K|ALMS1_uc002sjh.1_Missense_Mutation_p.G961K	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1573	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTACTCATTTGGAGAGAAGCCG	0.446000														48			21		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125082829	125082829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:125082829G>A	uc003yqw.3	+	29	4162	c.3956G>A	c.(3955-3957)gGa>gAa	p.G1319E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1319						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGAGTCATAGGAAAATTTAAG	0.408000														87			26		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407027	75407027	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:75407027G>A	uc001jut.4	-	3	2535	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L	SYNPO2L_uc001jus.4_Silent_p.L571L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	795	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAAGGGGGCAGAGACGGGGTA	0.592000														105			44		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26484597	26484597	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:26484597T>G	uc001mqt.4	+	3	479	c.334T>G	c.(334-336)Tac>Gac	p.Y112D	ANO3_uc010rdr.2_Missense_Mutation_p.Y96D|ANO3_uc010rds.2_5'UTR	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	112						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGATAAGGATTACACGGATGA	0.308000														13			5		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39512337	39512337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:39512337C>T	uc003oot.2	-	11	1515	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	KIF6_uc010jxa.1_Missense_Mutation_p.E265K|KIF6_uc011dua.1_Missense_Mutation_p.E474K|KIF6_uc010jxb.1_Missense_Mutation_p.E474K	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	474					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATACTGATTTCGTTATCTCTC	0.408000														31			22		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75969815	75969815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:75969815C>T	uc003kek.3	+	25	3470	c.3248C>T	c.(3247-3249)tCg>tTg	p.S1083L	IQGAP2_uc011csv.2_Missense_Mutation_p.S579L|IQGAP2_uc003kel.3_Missense_Mutation_p.S579L|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1083	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTGAAGAATTCGATCCATGAG	0.368000														45			63		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77286749	77286749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:77286749G>A	uc004aji.3	+	8	1238	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	RORB_uc004ajh.3_Missense_Mutation_p.E386K	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	397	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GAAGCTTCAGGAAAAAATTTA	0.448000														24			11		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351039	146351039	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:146351039C>G	uc010khw.1	+	1	856	c.386C>G	c.(385-387)tCc>tGc	p.S129C	GRM1_uc010khu.1_Missense_Mutation_p.S129C|GRM1_uc010khv.1_Missense_Mutation_p.S129C|GRM1_uc003qll.2_Missense_Mutation_p.S129C|GRM1_uc011edz.1_Missense_Mutation_p.S129C|GRM1_uc011eea.1_Missense_Mutation_p.S129C	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	129					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCTCTGATTTCCATTCGAGAT	0.582000														19			53		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24893010	24893010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:24893010G>A	uc001upj.3	+	2	282	c.221G>A	c.(220-222)gGa>gAa	p.G74E	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	74	Collagen-like 1.					collagen	hormone activity	p.G74V(2)		endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGAGAGAAGGGAGAACGAGGT	0.453000														117			44		0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328288	97328289	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:97328288_97328289CC>TT	uc002bue.3	+	2	466_467	c.259_260CC>TT	c.(259-261)cca>TTa	p.P87L	DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	87								p.S86T(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			ATCTGCTTCCCCACTGATTCAG	0.446000														59			37		0	0	1	0	0
PDZK1	5174	broad.mit.edu	37	1	145761346	145761346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:145761346G>A	uc001eon.2	+	7	1316	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	PDZK1_uc001eoo.2_Missense_Mutation_p.G387S|PDZK1_uc010oza.2_Missense_Mutation_p.G276S	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	387	PDZ 4.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AGGTGAAAATGGCTATGGCTT	0.473000														72			22		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858006	9858006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:9858006G>A	uc010uym.2	-	13	3705	c.3395C>T	c.(3394-3396)cCa>cTa	p.P1132L	GRIN2A_uc002czo.4_Missense_Mutation_p.P1132L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P975L|GRIN2A_uc002czr.4_Missense_Mutation_p.P1132L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1132					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.P1132L(2)		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)	AAACTGGGGTGGATCTAAGTG	0.532000														71			41		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222460	142222461	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:142222460_142222461GG>AA	uc003ywd.1	-	6	2291_2292	c.1983_1984CC>TT	c.(1981-1986)ttcctg>ttTTtg	p.661_662FL>FL	SLC45A4_uc003ywc.1_Silent_p.661_662FL>FL|SLC45A4_uc010meq.1_Silent_p.659_660FL>FL	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	712					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGATCACCAGGAATGTGGCCG	0.644000														27			5		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410126	159410126	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:159410126C>T	uc010piv.2	+	0	615	c.578C>T	c.(577-579)cCt>cTt	p.P193L	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	193					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)					GACATCCGCCCTGTGATGAAG	0.463000														84			107		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600087	137600087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:137600087G>A	uc003lcn.3	-	1	382	c.242C>T	c.(241-243)tCg>tTg	p.S81L	GFRA3_uc003lco.3_Missense_Mutation_p.S81L	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	81					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCAGGGACCGAAGGCTCCTC	0.602000														46			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083864	9083864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9083864G>A	uc002mkp.3	-	0	8155	c.7951C>T	c.(7951-7953)Cct>Tct	p.P2651S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2651	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGTGAGAGGGATGGCTGGA	0.507000														21			14		0	0	1	0	0
D21847	0	broad.mit.edu	37	14	22090620	22090620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22090620C>T	uc001wbi.2	+	1	272	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		GGAGACAGGTCGTTTTTCTTC	0.478000														57			31		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24566965	24566965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:24566965G>A	uc011djo.2	-	13	2652	c.2152C>T	c.(2152-2154)Cct>Tct	p.P718S	KIAA0319_uc011djp.2_Missense_Mutation_p.P673S|KIAA0319_uc003neh.1_Missense_Mutation_p.P718S|KIAA0319_uc011djq.1_Missense_Mutation_p.P709S|KIAA0319_uc011djr.1_Missense_Mutation_p.P718S|KIAA0319_uc010jpt.1_Missense_Mutation_p.P129S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	718					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						GCTCTGGGAGGACTATTATTT	0.383000														104			72		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433498	69433498	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:69433498C>T	uc021xov.1	-	0	748	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	235					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CACTATAAAACTGGTCCCACT	0.318000														20			46		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65541250	65541250	+	Silent	SNP	G	A	A	rs151327457		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:65541250G>A	uc002sdr.4	-	5	1177	c.642C>T	c.(640-642)atC>atT	p.I214I	SPRED2_uc010fcw.3_Silent_p.I211I	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	214	KBD.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	p.I214I(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGATGCGCACGATCTCCTCGT	0.622000														22			15		0	0	1	0	0
MIR1283-2	100302205	broad.mit.edu	37	19	54261553	54261553	+	RNA	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54261553G>A	uc021vax.1	+	0		c.68G>A								Homo sapiens microRNA 1283-2 (MIR1283-2), microRNA.																		GCTTCCCTTTGGAGTGTTACG	0.458000														35			27		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997013	82997013	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:82997013C>T	uc003uhy.2	-	16	2838	c.2217G>A	c.(2215-2217)agG>agA	p.R739R	SEMA3E_uc022agy.1_Silent_p.R679R	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	739	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TAAGCTTTTTCCTCTTTCTAT	0.473000														62			39		0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21415039	21415039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:21415039C>T	uc001iqm.3	-	1	232	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Silent_p.Q72Q	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	61										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GCTCTCCGTTCTGCCTTACCA	0.537000														58			25		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141583025	141583025	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:141583025G>A	uc003yvn.3	-	2	263	c.222C>T	c.(220-222)atC>atT	p.I74I	EIF2C2_uc010meo.3_Silent_p.I74I|EIF2C2_uc010men.3_5'UTR	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	74					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TGTGTTCCACGATTTCCCTGA	0.408000														47			42		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119772	3119772	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3119772C>T	uc010vrc.2	+	0	858	c.858C>T	c.(856-858)ttC>ttT	p.F286F		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F286S(1)|p.P285S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAAATCCTTTCATCTACAGTC	0.473000														126			28		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784321	151784321	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:151784321G>A	uc003luv.2	-	0	520	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	118					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGAAGTAGCAGCCCACGGGCC	0.607000														85			37		0	0	1	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153963239C>G	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														46			74		0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119598	42119598	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:42119598G>A	uc003gwn.3	-	5	2122	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	BEND4_uc003gwm.3_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	514										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCTGGTGATCGATCCCTTCAT	0.527000														14			23		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159195525	159195525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:159195525C>T	uc002tzq.3	-	5	873	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CCDC148_uc002tzr.3_Missense_Mutation_p.D35N|CCDC148_uc010foh.3_Intron|CCDC148_uc010fok.2_Missense_Mutation_p.D101N|CCDC148_uc010foi.2_Missense_Mutation_p.D134N|CCDC148_uc010foj.2_Missense_Mutation_p.D35N|CCDC148_uc002tzs.2_Missense_Mutation_p.D187N	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	187										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGAAAGATCATTTTCTATT	0.308000														35			19		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451935	138451935	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:138451935G>A	uc003ihe.4	-	0	1695	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	PCDH18_uc003ihf.4_Silent_p.I429I|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.I216I|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	436	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTCCTCAGCGATTACAGTCA	0.383000														97			39		0	0	1	0	0
MOGAT1	116255	broad.mit.edu	37	2	223559162	223559162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:223559162G>A	uc010fws.1	+	3	608	c.560G>A	c.(559-561)gGg>gAg	p.G187E	MOGAT1_uc010fwt.1_Missense_Mutation_p.G147E	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 1 (MOGAT1), mRNA.	187					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		ATTGTCCTTGGGGGTGCAAAA	0.443000														26			17		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113543643	113543643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:113543643C>T	uc001tun.2	-	16	2010	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	RASAL1_uc010syp.2_Missense_Mutation_p.R569Q|RASAL1_uc001tul.3_Missense_Mutation_p.R568Q|RASAL1_uc001tum.2_Missense_Mutation_p.R568Q|RASAL1_uc010syq.2_Missense_Mutation_p.R569Q|RASAL1_uc001tuo.4_Missense_Mutation_p.R569Q	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	568	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding	p.G570V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ATAGCCTTCTCGAACAATGGC	0.637000														45			16		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														61			3		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937623	21937623	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:21937623C>T	uc010tzj.1	-	0		c.3117G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CATCGTCCTCCTCCTCTGTCA	0.498000														69			14		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395951	47395951	+	Missense_Mutation	SNP	C	T	T	rs140052682	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:47395951C>T	uc001cqp.4	-	11	1447	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	466					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACCTTCAGCTCGTTCATGGCA	0.547000														132			40		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250759	35250759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:35250759C>T	uc010edn.1	-	3	1335	c.947G>A	c.(946-948)tGt>tAt	p.C316Y	ZNF599_uc010edm.2_Missense_Mutation_p.C279Y	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	316					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)			AGCTTTCCCACATTCTTTGCA	0.413000														31			22		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120911	38120911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:38120911C>T	uc003atr.3	+	6	2619	c.2348C>T	c.(2347-2349)cCc>cTc	p.P783L	TRIOBP_uc003atu.3_Missense_Mutation_p.P611L|TRIOBP_uc003atq.1_Missense_Mutation_p.P783L|TRIOBP_uc003ats.1_Missense_Mutation_p.P611L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	783					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.P783H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCTCCTCTCCCAATAGAGCC	0.567000														49			26		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75099521	75099521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:75099521C>T	uc002snd.3	+	3	2396	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	157	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTCTCGTTCCCCTGCCACCAG	0.512000														53			27		0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41859614	41859614	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:41859614C>T	uc001zof.2	+	6	1076	c.840C>T	c.(838-840)ccC>ccT	p.P280P		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	280	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGTGCCCCCCTTTACCTGCC	0.607000														102			28		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842527	123842527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:123842527C>T	uc001lfv.3	+	3	872	c.512C>T	c.(511-513)cCc>cTc	p.P171L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P171L|TACC2_uc010qtv.2_Missense_Mutation_p.P171L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	171						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTGCCGTCCCCAGTGCTGGA	0.592000														26			13		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039653	36039653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:36039653G>A	uc003jjz.2	-	4	1133	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	UGT3A2_uc011cos.2_Missense_Mutation_p.S300F|UGT3A2_uc011cot.2_Missense_Mutation_p.S32F	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	334						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGCCAATGAGAACACTGACA	0.522000														192			31		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442052	145442052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:145442052C>T	uc003lnt.3	+	9	2216	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	SH3RF2_uc011dbl.1_Missense_Mutation_p.P660S|SH3RF2_uc003lnu.3_Missense_Mutation_p.P151S|SH3RF2_uc011dbn.1_Missense_Mutation_p.P151S|SH3RF2_uc011dbo.2_Missense_Mutation_p.P117S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	660							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCTCCCATCCCACCTCCGG	0.557000														51			78		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134623944	134623944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:134623944C>T	uc021qbc.1	-	56	7734	c.7633G>A	c.(7633-7635)Gaa>Aaa	p.E2545K		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	706										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CACTCATCTTCTGAAGGAGAC	0.632000														49			31		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86801252	86801252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:86801252G>A	uc002blz.1	+	7	901	c.821G>A	c.(820-822)gGg>gAg	p.G274E		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	274	Asp-rich.				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACTGAAGATGGGAAAGTGGAA	0.428000														63			33		0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49919798	49919798	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:49919798C>T	uc001rud.2	+	13	2387	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Silent_p.N466N|SPATS2_uc001ruf.2_Silent_p.N466N	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	466						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACCCCATGAACCAAGGGCGGC	0.498000														41			20		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196076	131196076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:131196076C>T	uc003vqw.4	-	1	475	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	PODXL_uc003vqx.4_Missense_Mutation_p.E73K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	73	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCCAAGATTTCGTTGGCCTTG	0.557000														43			28		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50452571	50452571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:50452571G>A	uc001rvv.3	+	1	251	c.22G>A	c.(22-24)Gag>Aag	p.E8K	ASIC1_uc001rvw.3_Missense_Mutation_p.E8K|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Missense_Mutation_p.E8K	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	8					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GGCCGAGGAGGAGGAGGTGGG	0.617000														45			21		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234304	21234304	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:21234304C>T	uc002red.3	-	25	5564	c.5436G>A	c.(5434-5436)ggG>ggA	p.G1812G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1812					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCGTAGTTTCCCATTGTTGG	0.403000														57			26		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052928	15052928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:15052928C>T	uc010xoc.2	+	0	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GGGTGTTTTTCCTCTCTGTGG	0.453000														40			14		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35715184	35715184	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:35715184C>T	uc003ola.3	+	3	699	c.672C>T	c.(670-672)atC>atT	p.I224I	ARMC12_uc003olb.1_Silent_p.I197I	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	197							binding										TGATGGAGATCCTGCAGTCAG	0.592000														55			26		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134981782	134981782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:134981782C>T	uc001llz.1	+	2	327	c.326C>T	c.(325-327)cCc>cTc	p.P109L	KNDC1_uc001lma.1_Missense_Mutation_p.P44L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	109	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCTTCGTTCCCCCCGAGTTC	0.587000														77			36		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036358	71036358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:71036358G>A	uc003tvy.3	+	5	1051	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	WBSCR17_uc003tvz.3_Missense_Mutation_p.G50R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	351	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGATGTATACGGAGGAGAAAA	0.517000														59			36		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55224635	55224636	+	RNA	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55224635_55224636CC>TT	uc002qgs.1	+	0		c.5035_5036CC>TT			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		AGAATCTCATCCGCGTGGCTGT	0.574000														27			16		0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293530	120293530	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:120293530C>T	uc001eid.3	-	9	1509	c.1421_splice	c.e9-1	p.V474_splice	HMGCS2_uc010oxj.2_Splice_Site_p.V432_splice|HMGCS2_uc021osw.1_Splice_Site_p.V240_splice	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	474					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GGGAGAAATTCACTGTGGAAT	0.498000														27			8		0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991690	39991690	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:39991690C>T	uc002xjy.1	-	3	743	c.519G>A	c.(517-519)agG>agA	p.R173R		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	173						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGGGCCTTTCCTTCCTGGGA	0.577000														6			6		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101443558	101443558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:101443558G>A	uc003dvk.1	+	0	65	c.38G>A	c.(37-39)gGa>gAa	p.G13E	CEP97_uc010hpm.1_Missense_Mutation_p.G13E|CEP97_uc011bhf.1_Missense_Mutation_p.G13E|CEP97_uc003dvl.1_5'Flank	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	13						centrosome|nucleus	protein binding	p.P12P(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGCCTCCCGGAGAAGGTAAG	0.532000														34			33		0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62557655	62557655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:62557655G>A	uc002jep.1	-	11	1667	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SMURF2_uc002jeq.1_Missense_Mutation_p.R186C|SMURF2_uc002jer.1_Missense_Mutation_p.R186C	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	427	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCTTCTCCACGAAATTTTATC	0.363000														25			18		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720306	14720306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:14720306G>A	uc003zlj.3	-	1	631	c.586C>T	c.(586-588)Cct>Tct	p.P196S		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	196	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCGGCTCCAGGAAAATGAACA	0.483000														16			25		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109861728	109861728	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:109861728C>T	uc021xqo.1	-	8	695	c.639G>A	c.(637-639)ggG>ggA	p.G213G	COL25A1_uc003hze.1_Silent_p.G213G|COL25A1_uc021xqp.1_Silent_p.G213G|COL25A1_uc003hzg.3_Silent_p.G213G|COL25A1_uc003hzd.3_Intron|COL25A1_uc003hzf.3_5'UTR	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	213	Collagen-like 2.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCCATCTTTCCCTGTGTCCC	0.582000														66			65		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634315	32634315	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:32634315G>A	uc003zrg.1	-	0	1353	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	421					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCACCATCAGGAAGTTTTCGT	0.458000														137			301		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212634	55212634	+	Missense_Mutation	SNP	G	A	A	rs34056887		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:55212634G>A	uc003jql.3	+	14	2173	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K	IL31RA_uc003jqm.3_Missense_Mutation_p.E642K|IL31RA_uc003jqn.3_Missense_Mutation_p.E661K|IL31RA_uc021xyq.1_Missense_Mutation_p.E642K|IL31RA_uc003jqo.3_Missense_Mutation_p.E519K	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	629					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AACGGGTCAGGAAAACAATTT	0.478000														47			31		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23709835	23709835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:23709835C>T	uc003xdw.1	-	1	465	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	61					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.L60L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTGGAGTTTTCCAGGCATGCA	0.473000														51			51		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882800	144882800	+	Silent	SNP	G	A	A	rs140450543		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:144882800G>A	uc021ouh.1	-	23	3521	c.3219C>T	c.(3217-3219)atC>atT	p.I1073I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.I1073I|PDE4DIP_uc001elx.4_Silent_p.I1139I|PDE4DIP_uc001elv.4_Silent_p.I80I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1073					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTCTTCCTCGATCTCCCATC	0.512000			T	PDGFRB	MPD									372			114		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179638516	179638516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:179638516C>T	uc010pnp.2	+	16	3355	c.2837C>T	c.(2836-2838)tCc>tTc	p.S946F	TDRD5_uc021pfm.1_Missense_Mutation_p.S892F|TDRD5_uc001gnf.2_Missense_Mutation_p.S892F|TDRD5_uc021pfn.1_Missense_Mutation_p.S946F|TDRD5_uc001gnh.2_Missense_Mutation_p.S447F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	892					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGGATGATTCCGCAGAAAAG	0.473000														110			37		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710933	14710933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:14710933C>T	uc010dzn.2	+	11	910	c.833C>T	c.(832-834)gCc>gTc	p.A278V	CLEC17A_uc010dzo.2_Missense_Mutation_p.A278V|CLEC17A_uc002mzh.2_Missense_Mutation_p.A261V|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	278	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGGGATGAGGCCCGGATGTTC	0.522000														34			16		0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154961016	154961016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:154961016G>A	uc001fgf.2	+	1	1209	c.808G>A	c.(808-810)Gga>Aga	p.G270R	FLAD1_uc001fgc.3_Missense_Mutation_p.G171R|FLAD1_uc001fgd.2_Missense_Mutation_p.G270R|FLAD1_uc001fge.2_Missense_Mutation_p.G173R|FLAD1_uc001fgg.2_Missense_Mutation_p.G173R|FLAD1_uc021paj.1_Missense_Mutation_p.G171R|FLAD1_uc001fgh.1_Missense_Mutation_p.G3R	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	270					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGATGAAGGGACTATTCCA	0.572000														22			37		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514289	47514289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:47514289G>A	uc001cqt.3	+	9	1510	c.1260G>A	c.(1258-1260)tgG>tgA	p.W420*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W419*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W355*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	420						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGCTGTCTGGAAAAACCCAA	0.418000														123			52		0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18650086	18650086	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:18650086C>T	uc002zny.3	+	4	803	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN	Homo sapiens ubiquitin specific peptidase 18 (USP18), mRNA.	155					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						AGGACCAGATCACTGATGTGC	0.473000														71			52		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28378135	28378135	+	Splice_Site	SNP	G	A	A	rs35119577		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:28378135G>A	uc002het.3	+	9	1393	c.1201_splice	c.e9-1	p.V401_splice	EFCAB5_uc010wbi.1_Splice_Site_p.V144_splice|EFCAB5_uc010wbj.2_Splice_Site_p.V345_splice|EFCAB5_uc010wbk.2_Splice_Site_p.V58_splice|EFCAB5_uc010csd.3_Splice_Site|EFCAB5_uc010cse.3_Splice_Site_p.V280_splice|EFCAB5_uc010csf.3_Splice_Site_p.V280_splice	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	401							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCTTTGCTTAGGTAGGGTTTT	0.393000														18			20		0	0	1	0	0
FRG2	448831	broad.mit.edu	37	4	190947577	190947577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:190947577C>T	uc011clh.2	-	2	349	c.296G>A	c.(295-297)aGa>aAa	p.R99K	FRG2_uc003izv.3_Missense_Mutation_p.R98K	NM_001005217	NP_001005217	Q64ET8	FRG2_HUMAN	Homo sapiens FSHD region gene 2 (FRG2), mRNA.	98						nucleus				large_intestine(1)|lung(3)|ovary(2)|skin(1)	7		all_cancers(14;1.01e-50)|all_epithelial(14;6.7e-35)|all_lung(41;2.17e-14)|Lung NSC(41;4.95e-14)|Breast(6;3.4e-05)|Melanoma(20;0.000539)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|all_hematologic(60;0.0489)|Prostate(90;0.0513)		all cancers(3;3.83e-31)|Epithelial(3;1.36e-30)|OV - Ovarian serous cystadenocarcinoma(60;1.99e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00831)|READ - Rectum adenocarcinoma(43;0.155)		ACTCATTTTTCTTTTCCTGCA	0.443000														41			14		0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379525	45379525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:45379525C>T	uc002zdx.3	+	3	889	c.224C>T	c.(223-225)cCt>cTt	p.P75L	AGPAT3_uc002zdv.3_5'UTR|AGPAT3_uc002zdw.3_5'UTR|AGPAT3_uc002zdy.3_5'UTR	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	0					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GACGGCTGTCCTCAGCGAGGG	0.667000														22			19		0	0	1	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133769419	133769419	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:133769419C>T	uc001lks.3	+	6	1216	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	PPP2R2D_uc001lkr.3_Silent_p.A211A|PPP2R2D_uc001lkt.3_Silent_p.A211A|PPP2R2D_uc009yay.3_Silent_p.A273A	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, delta (PPP2R2D), transcript variant 1, mRNA.	438					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		ATGTCATTGCCGTGGCTGCCA	0.507000														22			12		0	0	1	0	0
ZBED2	79413	broad.mit.edu	37	3	111312560	111312560	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:111312560C>T	uc003dxy.3	-	1	1390	c.489G>A	c.(487-489)agG>agA	p.R163R	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Silent_p.R163R	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	163							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CTGCCCTTTCCCTCCTAAGCA	0.602000														82			74		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131792714	131792714	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:131792714G>A	uc003ytd.4	-	17	3934	c.3678C>T	c.(3676-3678)aaC>aaT	p.N1226N	ADCY8_uc010mds.3_Silent_p.N1095N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1226					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGTCCGCCGGTTGTAATGAC	0.498000										HNSCC(32;0.087)				97			25		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48559827	48559827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:48559827C>T	uc003toq.2	+	52	14012	c.13988C>T	c.(13987-13989)tCg>tTg	p.S4663L	ABCA13_uc010kys.1_Missense_Mutation_p.S1738L|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.S393L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4663					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						CAACTGGCCTCGCAGGGCACA	0.512000														16			10		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322709	31322709	+	Missense_Mutation	SNP	G	A	A	rs149695417		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:31322709G>A	uc002hhs.1	+	1	392	c.317G>A	c.(316-318)gGa>gAa	p.G106E	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	106					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGCTGGACGGATACCGGGGA	0.622000														26			9		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3235706C>T	uc004crg.4	-	5	6173	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2006	Ig-like C2-type 4.					extracellular region		p.H2005H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000														7			7		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122622429	122622429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:122622429C>T	uc021pzt.1	+	4	955	c.709C>T	c.(709-711)Cct>Tct	p.P237S	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	237						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCAAGAGAAACCTAGGTAAGT	0.373000														40			17		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101576622	101576622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:101576622G>A	uc001thz.4	-	8	1514	c.1124C>T	c.(1123-1125)tCg>tTg	p.S375L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	375					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.S375L(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTCTGAGAGCGATCTGAAGTA	0.368000														53			33		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27163025	27163025	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:27163025C>T	uc002rhu.4	+	8	1232	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	DPYSL5_uc002rhv.4_Silent_p.I358I|DPYSL5_uc021vev.1_Silent_p.I358I	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	358					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCGTCATCTGGGAGAGAG	0.532000														60			24		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031001	33031001	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:33031001G>A	uc001rlj.4	-	2	928	c.813C>T	c.(811-813)gtC>gtT	p.V271V	PKP2_uc001rlk.4_Silent_p.V271V|PKP2_uc010skj.2_Silent_p.V271V	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	271					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.Q270Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAGCGGCCTGACCTGCCCGA	0.662000														21			17		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31233414	31233414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:31233414C>T	uc001utc.2	+	8	3632	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	USPL1_uc001utd.2_Missense_Mutation_p.S738F|USPL1_uc001ute.1_Missense_Mutation_p.S738F	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	1067					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAGTTTTTTTCCTCCTCAGCA	0.353000														72			26		0	0	1	0	0
RCAN2	10231	broad.mit.edu	37	6	46216633	46216633	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:46216633C>T	uc003oyc.2	-	3	379	c.226_splice	c.e3-1	p.E76_splice	RCAN2_uc003oyb.2_Splice_Site_p.E30_splice|RCAN2_uc003oyd.2_Splice_Site_p.E76_splice	NM_001251974	NP_001238903	Q14206	RCAN2_HUMAN	Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA.	30					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.E30K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCAAATTTTTCCTGATAAAAA	0.368000														36			14		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039768	248039768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248039768G>A	uc001ido.3	+	5	1486	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	480						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTGCTTCTGATGTAAGAGA	0.428000														27			34		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803225	67803225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:67803225C>T	uc003xwz.4	+	9	1370	c.1199C>T	c.(1198-1200)gCt>gTt	p.A400V	MCMDC2_uc011lev.2_Missense_Mutation_p.A400V|MCMDC2_uc011lew.2_Missense_Mutation_p.A331V|MCMDC2_uc011lex.2_Missense_Mutation_p.A158V|MCMDC2_uc003xwy.4_Missense_Mutation_p.A400V	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	400					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GCTGGCAGTGCTTTGCTAGCT	0.398000														73			35		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158902549	158902549	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:158902549G>A	uc003woh.3	-	2	399	c.213C>T	c.(211-213)gtC>gtT	p.V71V	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	71					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AGGGCACCGTGACGGTCTCTC	0.572000														59			33		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017225	32017225	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32017225G>A	uc003nzl.2	-	27	9775	c.9573C>T	c.(9571-9573)ttC>ttT	p.F3191F	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3238					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.F3258F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAGGAGTCGAAGCGGCCCT	0.701000														78			47		0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125760934	125760934	+	Silent	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125760934T>G	uc011lzh.2	+	9	1397	c.1263T>G	c.(1261-1263)ccT>ccG	p.P421P	RABGAP1_uc004bnl.4_Non-coding_Transcript	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	421					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TACAGGAGCCTGTTCGATTTC	0.393000														94			47		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432228	140432228	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140432228C>T	uc003lik.1	+	0	1250	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	391	Cadherin 4.				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)			AAGACCTTCCCTTTGTAATCA	0.473000														67			30		0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586839	86586839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:86586839G>A	uc004ang.4	-	10	1135	c.911C>T	c.(910-912)gCt>gTt	p.A304V	HNRNPK_uc011lsw.2_Missense_Mutation_p.A64V|HNRNPK_uc004and.4_Missense_Mutation_p.A64V|HNRNPK_uc004anf.4_Missense_Mutation_p.A304V|HNRNPK_uc004anh.4_Missense_Mutation_p.A280V|HNRNPK_uc011lsx.2_Missense_Mutation_p.A280V|HNRNPK_uc004anl.4_Missense_Mutation_p.A304V|HNRNPK_uc004anm.4_Missense_Mutation_p.A304V|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	304	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AAGATTCCGAGCTCTGCTACC	0.522000														61			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9018509	9018509	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9018509C>T	uc002mkp.3	-	23	37869	c.37665G>A	c.(37663-37665)ctG>ctA	p.L12555L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12557	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTCATACTTCAGGTTGGTGA	0.512000														130			78		0	0	1	0	0
HM13	81502	broad.mit.edu	37	20	30154057	30154057	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:30154057C>T	uc002wwc.3	+	10	1107	c.993C>T	c.(991-993)gtC>gtT	p.V331V	HM13_uc002wwd.3_Silent_p.V331V|HM13_uc002wwe.3_Silent_p.V331V|HM13_uc002wwf.3_Silent_p.V207V	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	331					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTTTTCCTGTCCTGGTGGCGC	0.622000														54			19		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479510	156479510	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:156479510G>A	uc010jij.1	-	3	720	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	HAVCR1_uc011ddl.1_Silent_p.L10L|HAVCR1_uc003lwi.2_Silent_p.L179L|HAVCR1_uc021ygj.1_Silent_p.L179L|HAVCR1_uc021ygk.1_Silent_p.L10L|HAVCR1_uc011ddm.2_Silent_p.L179L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	174	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTGTCGTCAGAACAGTCGTT	0.463000														354			351		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657598	1657598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:1657598C>T	uc002ftk.1	+	9	1323	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F	SERPINF2_uc010vqr.1_Missense_Mutation_p.L352F|SERPINF2_uc021tnm.1_Missense_Mutation_p.L416F	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	416					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CCGCCCCTTCCTCTTCTTCAT	0.652000														79			97		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898638	175898638	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:175898638G>A	uc003iuc.3	+	4	2632	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	ADAM29_uc003iud.3_Silent_p.L654L|ADAM29_uc010irr.3_Silent_p.L654L|ADAM29_uc011cki.2_Silent_p.L654L|ADAM29_uc021xuo.1_Silent_p.L654L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	654	EGF-like.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.L654L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCAACTGCCTGATAAAAGGCT	0.413000														34			31		0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295177	295177	+	Silent	SNP	G	A	A	rs148086983	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:295177G>A	uc004cpg.3	-	12	1917	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PPP2R3B_uc004cpf.3_Silent_p.F152F	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	551					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCGCCTCGAAGAAGGGCC	0.711000														5			11		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950331	118950332	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:118950331_118950332GG>AA	uc004bjn.3	+	1	1695_1696	c.1314_1315GG>AA	c.(1312-1317)ggggat>ggAAat	p.D439N	PAPPA_uc011lxp.1_Missense_Mutation_p.D232N|PAPPA_uc011lxq.2_Missense_Mutation_p.D232N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	439	Metalloprotease.				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						ACGACGGCGGGGATTGCCGCCA	0.594000														19			13		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477014	63477014	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:63477014C>T	uc002lkb.3	+	2	711	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CDH7_uc002ljz.3_Silent_p.F95F|CDH7_uc002lka.3_Silent_p.F95F	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTTCCATTTTCATTATTGATG	0.468000														93			19		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929233	4929233	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:4929233C>T	uc010qyq.2	+	0	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACTTGGCACTGATTGTTTT	0.453000														66			40		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492258	54492258	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:54492258G>A	uc004dtg.3	-	6	2102	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	FGD1_uc011moi.1_Silent_p.I214I	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	456	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTTTCTGCAGGATGTCTCCAA	0.567000														8			19		0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153284108	153284108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:153284108C>T	uc004fjs.1	-	4	750	c.671G>A	c.(670-672)gGg>gAg	p.G224E	IRAK1_uc004fjr.1_Missense_Mutation_p.G224E|IRAK1_uc004fjt.1_Missense_Mutation_p.G224E|IRAK1_uc004fju.2_Missense_Mutation_p.G250E	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	224	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|lipopolysaccharide-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTACACGCACCCAAAGCCACC	0.622000														25			71		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811776	23811776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:23811776G>A	uc001ywh.4	+	0	1323	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E283K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	283	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCCCAGAGGGAAGAACATAT	0.532000														22			11		0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6378862	6378862	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:6378862C>T	uc003wqj.4	-	3	965	c.636G>A	c.(634-636)gaG>gaA	p.E212E	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Silent_p.E212E|ANGPT2_uc010lri.3_Silent_p.E160E|ANGPT2_uc003wql.4_Silent_p.E212E	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	212					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GCTGATCTTTCTCTTCTTTTA	0.353000														56			12		0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164271851	164271851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:164271851G>A	uc003iqn.3	+	3	608	c.426G>A	c.(424-426)atG>atA	p.M142I	NPY5R_uc021xtw.1_Missense_Mutation_p.M142I	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	142					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTATCATATGATAAAACATC	0.363000														170			44		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141970	133141970	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:133141970G>A	uc003ytj.3	-	14	2383	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	KCNQ3_uc003yti.3_Silent_p.L600L|KCNQ3_uc010mdt.3_Silent_p.L708L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	720					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTCGGGGCAGGTTCACAGGG	0.562000														30			29		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64488725	64488725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:64488725C>T	uc001xgl.3	+	36	5733	c.5503C>T	c.(5503-5505)Cac>Tac	p.H1835Y	SYNE2_uc001xgm.3_Missense_Mutation_p.H1835Y|SYNE2_uc021ruh.1_Missense_Mutation_p.H1835Y	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1835					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTGCAAGATCACTTTTCTAA	0.323000														48			21		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76623860	76623861	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:76623860_76623861CC>TT	uc003pih.1	+	33	3799_3800	c.3520_3521CC>TT	c.(3520-3522)cca>TTa	p.P1174L	MYO6_uc003pii.1_Missense_Mutation_p.P1151L|MYO6_uc003pij.1_Missense_Mutation_p.P122L	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	1183					DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTTCCGCATCCCATTCATCCGC	0.510000														38			92		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751729	27751729	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:27751729T>C	uc002dow.3	+	14	2135	c.2111T>C	c.(2110-2112)gTc>gCc	p.V704A		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	704										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTGTCGGCAGTCCCCACTTCG	0.493000														64			32		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100459389	100459389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100459389C>T	uc003uwp.3	+	11	1709	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	SLC12A9_uc003uwq.3_Missense_Mutation_p.R434W|SLC12A9_uc011kki.2_Missense_Mutation_p.R54W|SLC12A9_uc003uwr.3_Missense_Mutation_p.R259W|SLC12A9_uc003uws.3_Missense_Mutation_p.R54W|SLC12A9_uc003uwt.3_Missense_Mutation_p.R259W|SLC12A9_uc003uwv.3_Missense_Mutation_p.R54W	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	523						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTGGACGTCCGGAAGGATCA	0.632000														77			37		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51189596	51189596	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:51189596G>A	uc002psx.1	-	19	2494	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	SHANK1_uc002psw.1_Silent_p.I209I	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	825					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGCGGCCAGGATTTCGTCCA	0.562000														47			29		0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111948322	111948322	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:111948322G>A	uc001tsj.3	-	11	2265	c.2103C>T	c.(2101-2103)acC>acT	p.T701T	ATXN2_uc001tsh.3_Silent_p.T436T|ATXN2_uc001tsi.3_Silent_p.T412T|ATXN2_uc001tsk.3_Non-coding_Transcript	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	701	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCCCACTGGGGGTATTTCCAA	0.458000														197			90		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219886908	219886908	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:219886908G>A	uc002vjl.1	-	16	3048	c.2964C>T	c.(2962-2964)ctC>ctT	p.L988L	CCDC108_uc002vjm.3_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	988						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCTGGTGAGCCCAACGC	0.677000														4			4		0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120449	124120449	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:124120449G>A	uc001pzx.3	+	0	27	c.27G>A	c.(25-27)gtG>gtA	p.V9V		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		ATTCCTCAGTGACTGAGTTCA	0.478000														6			15		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672209	45672209	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:45672209G>A	uc021qgn.1	-	0	265	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	CHST1_uc001mys.2_Silent_p.L89L	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	89					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGCTCAAACAGGTAGAAGACG	0.652000														55			20		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194061912	194061912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:194061912G>A	uc003fts.3	-	1	1610	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F	CPN2_uc021xix.1_Missense_Mutation_p.S507F	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	507					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTGCTGAGGAGAGAGCTGGAC	0.642000														13			19		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42817404	42817404	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:42817404C>T	uc010goq.3	+	9	1384	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	MX1_uc002yzh.3_Silent_p.I346I|MX1_uc002yzi.3_Silent_p.I346I	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	346					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAAATCAAATCAAGGAGACTC	0.408000														47			30		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628742	3628742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3628742C>T	uc002fwp.3	+	0	1546	c.1513C>T	c.(1513-1515)Cac>Tac	p.H505Y	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	505	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AATTGCTGATCACACACCCGT	0.448000														86			35		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012615	189012615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:189012615G>A	uc011cle.1	-	7	1523	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	TRIML2_uc003izj.1_Missense_Mutation_p.S187F|TRIML2_uc003izk.1_Missense_Mutation_p.S167F|TRIML2_uc003izl.2_Missense_Mutation_p.S359F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	359							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GATACAGAGGGAAAACACAGG	0.473000														105			32		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994858	143994858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:143994858G>A	uc003yxk.1	-	5	967	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCAGCAAGGGAAACGCTGTC	0.632000									Familial Hyperaldosteronism type I					76			25		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138425364	138425364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:138425364G>A	uc002tva.1	+	25	4582	c.4582G>A	c.(4582-4584)Gtt>Att	p.V1528I		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAAAATTTGGGTTTATGGCGT	0.363000														4			2		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875734	247875734	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:247875734G>A	uc001idj.1	-	0	324	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108C(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACTCTGTGCAGCCTAATGAGA	0.498000														70			25		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651043	142651043	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142651043C>T	uc003wcb.3	-	9	1135	c.925_splice	c.e9-1	p.E309_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	309					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGGGCCATTTCCTTAGAGGAG	0.537000														26			15		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321533	79321533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:79321533G>A	uc010mpk.3	-	7	5781	c.5657C>T	c.(5656-5658)cCt>cTt	p.P1886L	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.P1708L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1886					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCACTAAAAGGATTAGTATA	0.473000														15			6		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117079532	117079532	+	Silent	SNP	G	A	A	rs142579121		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:117079532G>A	uc011mtp.2	-	2	247	c.114C>T	c.(112-114)ctC>ctT	p.L38L	KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Silent_p.L35L|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Silent_p.L29L|KLHL13_uc011mtq.2_Silent_p.L19L|KLHL13_uc004eqm.3_5'UTR|KLHL13_uc022cde.1_Silent_p.L19L	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	35					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTCTTCCACGAGAGATCTGA	0.388000														5			11		0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7301714	7301714	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:7301714G>A	uc003mxf.4	-	3	560	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_003144	NP_003135	P43307	SSRA_HUMAN	Homo sapiens signal sequence receptor, alpha (SSR1), mRNA.	124					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					GAGGATAACGGAATGAGGCAT	0.413000														62			56		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121243857	121243857	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:121243857G>A	uc003yox.3	+	19	2614	c.2349_splice	c.e19+1	p.T783_splice	COL14A1_uc003yoy.3_Splice_Site_p.T461_splice	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	783	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCATAGGAACGGTCTGTATAA	0.448000														14			19		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89835919	89835919	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:89835919G>A	uc010bnp.1	+	21	2083	c.1993_splice	c.e21-1	p.D665_splice	FANCI_uc002bnm.1_Splice_Site_p.D665_splice|FANCI_uc002bnn.1_Splice_Site|FANCI_uc002bnp.1_Splice_Site_p.D486_splice|FANCI_uc002bnq.1_Splice_Site_p.D78_splice	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	665					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCTCCTACAGGATTATCTGCT	0.368000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					44			19		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198665840	198665840	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:198665840G>A	uc001gur.1	+	4	275	c.95_splice	c.e4-1	p.G32_splice	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Splice_Site_p.G34_splice|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Splice_Site_p.R75_splice|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	32					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTAATTAACAGGATTGACTAC	0.418000														92			18		0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1369239	1369239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:1369239C>T	uc003gde.4	+	8	1823	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	UVSSA_uc010ibv.3_Missense_Mutation_p.S10F	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	459																	GACCCCACCTCTGCGGCTGCT	0.652000														85			36		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887546	97887546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:97887546G>A	uc011bgu.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTGAGGACATGGAAGAGGAAA	0.363000														58			36		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64421686	64421686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:64421686C>T	uc003pep.1	+	14	4227	c.4202C>T	c.(4201-4203)tCt>tTt	p.S1401F	PHF3_uc003pen.2_Missense_Mutation_p.S1313F|PHF3_uc011dxs.1_Missense_Mutation_p.S670F	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1401					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.N1400fs*1(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTTTTTAATTCTTTTACAACT	0.373000														65			46		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681122	100681122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100681122C>T	uc003uxp.1	+	2	6478	c.6425C>T	c.(6424-6426)tCt>tTt	p.S2142F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2142	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)					GTCAGTTCATCTCCTATACCT	0.498000														181			102		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24193032	24193032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:24193032C>T	uc003xdy.3	+	13	1528	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	ADAM28_uc003xdx.3_Missense_Mutation_p.S482F|ADAM28_uc011kzz.2_Missense_Mutation_p.S249F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.S169F	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	482	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S482F(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGTAAATCTGGTAATTGT	0.473000														31			23		0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971592	34971592	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:34971592C>T	uc003zvq.3	+	1	475	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KIAA1045_uc003zvr.3_Silent_p.F99F	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	99							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAAGTCGATTCACACCCCCTG	0.622000														172			97		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241641	3241641	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3241641G>A	uc004crg.4	-	4	2242	c.2085C>T	c.(2083-2085)atC>atT	p.I695I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	695						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATCCTCCACGATGTCTTCTC	0.517000														8			30		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170558	113170558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:113170558G>A	uc010mtz.3	-	37	7659	c.7322C>T	c.(7321-7323)cCc>cTc	p.P2441L	SVEP1_uc010mty.3_Missense_Mutation_p.P367L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2441	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			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						CTCAGGTTGGGGACATTCTAC	0.502000														27			10		0	0	1	0	0
CLDN1	9076	broad.mit.edu	37	3	190030809	190030809	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:190030809G>A	uc003fsh.3	-	1	480	c.240C>T	c.(238-240)acC>acT	p.T80T		NM_021101	NP_066924	O95832	CLD1_HUMAN	Homo sapiens claudin 1 (CLDN1), mRNA.	80					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		TCAAGGCACGGGTTGCTTGCA	0.448000														212			61		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167250754	167250754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:167250754C>T	uc003fev.1	-	7	1214	c.910G>A	c.(910-912)Gga>Aga	p.G304R	WDR49_uc003feu.1_Missense_Mutation_p.G129R|WDR49_uc011bpd.1_Missense_Mutation_p.G368R|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	304										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAATTTCTCCATCATAACTC	0.373000														22			28		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100365543	100365543	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:100365543G>A	uc003uwj.3	+	25	5115	c.4950G>A	c.(4948-4950)acG>acA	p.T1650T	ZAN_uc003uwk.3_Silent_p.T1650T|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.T227T	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1650	VWFD 2.				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)			TCCTCTACACGAACTTTGGGC	0.602000														21			16		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42754644	42754644	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:42754644A>C	uc002ote.4	-	1	254	c.96T>G	c.(94-96)ttT>ttG	p.F32L	ERF_uc002otd.4_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	32					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GCTCCAGGATAAAGTGCCACA	0.627000														35			19		0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76411014	76411014	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:76411014C>A	uc002jvm.3	+	7	1469	c.1457C>A	c.(1456-1458)tCt>tAt	p.S486Y	PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_Missense_Mutation_p.S199Y|PGS1_uc002jvo.3_Intron|PGS1_uc002jvp.1_Missense_Mutation_p.S199Y	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	Homo sapiens phosphatidylglycerophosphate synthase 1 (PGS1), mRNA.	486	PLD phosphodiesterase 2.				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGATTGGCTCTCCTAATTTT	0.587000														35			50		1.72845e-40	1.75135e-40	1	1	0
SPEM1	374768	broad.mit.edu	37	17	7324917	7324917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7324917G>A	uc002ggv.3	+	2	948	c.923G>A	c.(922-924)gGg>gAg	p.G308E	SPEM1_uc010vtw.1_Missense_Mutation_p.G42E	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	308					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCCCTAACTGGGAGGTGACTG	0.582000														22			11		0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435516	5435516	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:5435516C>T	uc001ihy.3	-	3	1343	c.1305G>A	c.(1303-1305)ctG>ctA	p.L435L	TUBAL3_uc001ihz.3_Silent_p.L395L	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	435					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AGTCCCTCTCCAGGGCTGCCA	0.478000														41			19		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727670	20727670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:20727670G>A	uc002npa.3	-	3	1519	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	447					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCTCCAGTATGAATTCTCTTA	0.413000														48			18		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466555	96466555	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96466555C>T	uc001kjv.4	+	4	983	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	219					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCAATAATTTCCCTGCTCTCA	0.299000														12			9		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331501	42331501	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:42331501C>T	uc002xlb.1	+	7	1538	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	MYBL2_uc010zwj.1_Silent_p.P417P	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCTCACGCCCAAGAGCACAC	0.582000														89			24		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183454513	183454513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:183454513C>T	uc003fly.2	+	7	1015	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	274	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGAGAGCCTCCTTTTCACCT	0.408000														40			46		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067802	190067802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:190067802C>T	uc001gse.1	-	7	1879	c.1647G>A	c.(1645-1647)atG>atA	p.M549I	FAM5C_uc010pot.1_Missense_Mutation_p.M447I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	549						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GACCCAAAATCATATGGACCA	0.473000														66			20		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18061077	18061077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:18061077C>T	uc021trm.1	+	49	9049	c.8830C>T	c.(8830-8832)Cct>Tct	p.P2944S	MYO15A_uc021trl.1_Missense_Mutation_p.P2942S|MYO15A_uc010vxi.2_Missense_Mutation_p.P208S|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_5'UTR|MYO15A_uc002gsl.3_5'Flank|MYO15A_uc010vxm.2_5'Flank|MYO15A_uc002gsm.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2944	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCGCTTCCCTTCGGAGCT	0.687000														34			35		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13920635	13920635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13920635C>T	uc003jfd.2	-	5	794	c.752G>A	c.(751-753)gGa>gAa	p.G251E	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	251	Stem (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)					CTCTATTTTTCCCAAAGTCTC	0.393000									Kartagener syndrome					123			73		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49046862	49046862	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:49046862C>T	uc003gyv.3	+	13	2045	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	CWH43_uc011bzl.2_Silent_p.I594I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	621	Required for function in lipid remodeling (By similarity).				GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGGGCTGATCAGGTGAGCAC	0.353000														103			28		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745691	32745691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:32745691C>T	uc001bux.3	+	11	1345	c.1207C>T	c.(1207-1209)Ccc>Tcc	p.P403S	LCK_uc001buy.3_Missense_Mutation_p.P403S|LCK_uc001buz.3_Missense_Mutation_p.P433S|LCK_uc010ohc.1_Missense_Mutation_p.P447S|LCK_uc001bva.3_Missense_Mutation_p.P410S	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	403	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity	p.P403S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GGCCAAGTTTCCCATTAAGTG	0.547000			T	TRB@	T-ALL									17			27		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183050720	183050720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:183050720G>A	uc002uos.3	-	13	1547	c.1463C>T	c.(1462-1464)cCa>cTa	p.P488L	PDE1A_uc010zfp.1_Missense_Mutation_p.P384L|PDE1A_uc002uoq.1_Missense_Mutation_p.P488L|PDE1A_uc010zfq.1_Missense_Mutation_p.P488L|PDE1A_uc002uor.3_Missense_Mutation_p.P472L|PDE1A_uc002uou.3_Missense_Mutation_p.P454L	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	488	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GGAGTAGTCTGGGGAATAGGA	0.463000														27			13		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872159	51872159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:51872159C>T	uc002xwo.3	+	1	3049	c.2162C>T	c.(2161-2163)cCa>cTa	p.P721L	TSHZ2_uc021wex.1_Missense_Mutation_p.P718L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	721					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGCTCCAGCCCAAGTTCAAGC	0.572000														39			41		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734556	47734556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:47734556C>T	uc002xud.3	-	10	1678	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	STAU1_uc002xua.3_Missense_Mutation_p.E342K|STAU1_uc002xub.3_Missense_Mutation_p.E348K|STAU1_uc002xuc.3_Missense_Mutation_p.E342K|STAU1_uc002xue.3_Missense_Mutation_p.E342K|STAU1_uc002xuf.3_Missense_Mutation_p.E348K|STAU1_uc002xug.3_Missense_Mutation_p.E423K	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	423						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGGCGACCTCGGGCACCATG	0.517000														121			49		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23518256	23518256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23518256G>A	uc001wil.3	-	11	2200	c.1940C>T	c.(1939-1941)aCc>aTc	p.T647I	CDH24_uc010akf.3_Missense_Mutation_p.T609I	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	647					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ACCCACACAGGTGATGATGGC	0.642000														38			6		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12819292	12819292	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:12819292G>A	uc002gnr.4	+	4	678	c.351G>A	c.(349-351)gaG>gaA	p.E117E	ARHGAP44_uc010vvk.2_Silent_p.E117E|ARHGAP44_uc010vvl.2_Silent_p.E117E|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Silent_p.E117E|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	117	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGCAAGTAGAGAGAGACGTGA	0.517000														34			10		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110807629	110807629	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:110807629C>T	uc001vqw.4	-	50	4877	c.4755_splice	c.e50+1	p.M1585_splice		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1585	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGACACTTACCATCACAAAA	0.607000														18			19		0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77756589	77756589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:77756589C>T	uc002bcr.3	+	3	298	c.97C>T	c.(97-99)Cac>Tac	p.H33Y	HMG20A_uc002bcq.1_Missense_Mutation_p.H33Y|HMG20A_uc002bcs.3_Missense_Mutation_p.H33Y	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	33					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGGTTAAATCACCCAGAGGT	0.433000														34			18		0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661599	2661599	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:2661599C>T	uc010ick.3	+	8	1291	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	FAM193A_uc003gfd.3_Silent_p.P230P|FAM193A_uc011bvm.2_Silent_p.P254P|FAM193A_uc011bvn.2_Silent_p.P230P|FAM193A_uc010icl.3_Silent_p.P230P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.P84P	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	230										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGGACCCCCCCGTCACTGATG	0.527000														159			52		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250589	177250589	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:177250589C>T	uc001glf.3	+	7	2589	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	FAM5B_uc001glg.3_Silent_p.I654I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	759						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGGCAGGATCCAGTCCTCCC	0.557000														41			52		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349805	89349805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:89349805C>T	uc002fmx.1	-	8	3606	c.3145G>A	c.(3145-3147)Gac>Aac	p.D1049N	ANKRD11_uc002fmy.1_Missense_Mutation_p.D1049N|ANKRD11_uc002fnc.1_Missense_Mutation_p.D1049N|ANKRD11_uc002fnb.1_Missense_Mutation_p.D1006N	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1049	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AATTCTTTGTCCTTCTGACAT	0.358000														50			30		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16337512	16337512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:16337512G>A	uc021whl.1	-	0	3002	c.3002C>T	c.(3001-3003)tCa>tTa	p.S1001L	NRIP1_uc002yjx.2_Missense_Mutation_p.S1001L	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	1001					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACCTGGGTATGAAAATGTCCT	0.453000														20			4		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212851	26212851	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:26212851C>T	uc022buc.1	+	0	888	c.888C>T	c.(886-888)ttC>ttT	p.F296F	MAGEB6_uc004dbr.3_Silent_p.F296F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	296	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TTGTGATCTTCATGAACGGCA	0.537000														27			71		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10401153C>T	uc002gmo.3	-	30	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1421						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCCTCTGCTTCGTCTTCTCAA	0.473000														72			25		0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22607905	22607905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:22607905C>T	uc009xkg.3	+	4	403	c.368C>T	c.(367-369)cCt>cTt	p.P123L	COMMD3-BMI1_uc001irf.3_Silent_p.S162S|COMMD3-BMI1_uc001irh.3_5'Flank	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	0					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										ATTCCCCATCCTATCCAGAGA	0.313000														48			21		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457338	142457338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142457338G>A	uc003wak.2	+	0	20	c.3G>A	c.(1-3)atG>atA	p.M1I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.M1I|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	1					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CTACCACCATGAATCCACTCC	0.577000														91			40		0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17600953	17600953	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:17600953G>A	uc002zmb.2	-	0	1261	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	CECR6_uc002zma.2_5'UTR|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	355										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ACAGCGCCATGGTGAGACGGA	0.692000														30			17		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14737460	14737460	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:14737460C>T	uc003zlm.3	-	37	7290	c.6474G>A	c.(6472-6474)ggG>ggA	p.G2158G	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Silent_p.G694G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2158	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTGCCATTTCCCTTGTCTTT	0.473000														6			14		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102112	29102112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:29102112C>T	uc002kwu.4	+	5	778	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	197	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCGAAAATTTCCTATAGAATC	0.378000														26			18		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37720449	37720449	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:37720449G>A	uc003xkm.2	-	5	3872	c.3816C>T	c.(3814-3816)atC>atT	p.I1272I	RAB11FIP1_uc003xkn.2_Silent_p.I638I|RAB11FIP1_uc003xkl.2_Silent_p.I601I	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1272	FIP-RBD.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCTGAGTCGGGATGCGGAGGA	0.483000														61			61		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288404	27288404	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:27288404C>T	uc003xfn.2	+	12	1489	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PTK2B_uc022ate.1_Silent_p.F227F|PTK2B_uc003xfp.2_Silent_p.F227F|PTK2B_uc003xfq.2_Silent_p.F227F|PTK2B_uc010luq.1_5'UTR|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	227	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCAAACAGTTCCGGAAGATGA	0.602000														55			62		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716477	142716477	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:142716477C>T	uc022cfm.1	-	0	2448	c.2448G>A	c.(2446-2448)gcG>gcA	p.A816A	SLITRK4_uc022cfl.1_Silent_p.A816A|SLITRK4_uc004fbx.3_Silent_p.A816A|SLITRK4_uc004fby.3_Silent_p.A816A	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	816						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)					TCTGCAGTTTCGCCTTCAGTT	0.398000														8			24		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662400	40662400	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40662400G>A	uc011aor.2	+	4	2377	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.W722*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.W526*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	722					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CTTCCTCTTGGAATGAGAATC	0.527000														14			11		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929669	121929669	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:121929669T>C	uc004bkc.2	-	7	2435	c.1979A>G	c.(1978-1980)tAt>tGt	p.Y660C		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	660					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CCTCAGGCTATACCCAAACAC	0.572000														108			62		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199609	117199609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:117199609C>T	uc003vjd.3	+	10	1616	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	495	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGTTTTCCTGGATTATG	0.383000									Cystic Fibrosis					46			25		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18609535	18609535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:18609535C>T	uc002znw.1	+	2	1159	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	TUBA8_uc002znv.2_Missense_Mutation_p.R264C|TUBA8_uc021wkt.1_Missense_Mutation_p.R198C	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	264					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCCCTACCCCCGCATCCACTT	0.567000														59			30		0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591232	14591232	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:14591232G>A	uc002myt.3	-	5	810	c.540C>T	c.(538-540)gcC>gcT	p.A180A	GIPC1_uc002myv.3_Silent_p.A83A|GIPC1_uc002myu.3_Silent_p.A180A|GIPC1_uc002myw.3_Silent_p.A83A|GIPC1_uc002myx.3_Silent_p.A180A|GIPC1_uc002myy.3_Silent_p.A83A	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	180	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	p.E179K(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCCCGTTAATGGCCTCGATCA	0.667000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			32		0	0	1	0	0
MAPK14	1432	broad.mit.edu	37	6	36070422	36070422	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:36070422C>T	uc003olq.3	+	9	1318	c.837C>T	c.(835-837)ccC>ccT	p.P279P	MAPK14_uc003olo.3_Silent_p.P279P|MAPK14_uc003olp.3_Silent_p.P279P|MAPK14_uc003olr.3_Intron|MAPK14_uc011dti.2_Silent_p.P202P	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	279	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|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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|MAP kinase kinase activity|protein binding	p.N278I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTGCCAATCCCCTGGGTAAGT	0.368000														125			67		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558773	118558773	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:118558773G>A	uc001ehk.2	-	28	4170	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1368						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACCCTTATGGGCCATTGAT	0.393000														38			46		0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217858	150217858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150217858G>A	uc003whk.3	+	1	926	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	GIMAP7_uc022apu.1_Missense_Mutation_p.E266K	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	266							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		aaatataaGGGAAGAAGCTGA	0.254000														25			11		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887015	55887015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:55887015C>T	uc010spo.2	+	0	869	c.869C>T	c.(868-870)tCt>tTt	p.S290F		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATGTTGAATTCTTTCATATAT	0.328000														47			16		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56823952	56823952	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:56823952G>A	uc001slf.2	-	9	1191	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	TIMELESS_uc001slg.2_Silent_p.F340F	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	341					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGTCTCTGAGGAAGAGCCTCA	0.517000														28			17		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56569737	56569737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:56569737C>T	uc002qmj.3	+	13	3431	c.3431C>T	c.(3430-3432)tCg>tTg	p.S1144L	NLRP5_uc002qmi.3_Missense_Mutation_p.S1125L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1144						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AAGCTGTGTTCGGCCTTTGCC	0.493000														20			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152765628	152765628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:152765628G>A	uc021zhb.1	-	27	3978	c.3755C>T	c.(3754-3756)tCt>tTt	p.S1252F	SYNE1_uc003qot.4_Missense_Mutation_p.S1259F|SYNE1_uc003qou.4_Missense_Mutation_p.S1252F|SYNE1_uc010kjb.1_Missense_Mutation_p.S1235F|SYNE1_uc003qow.3_Missense_Mutation_p.S547F|SYNE1_uc003qox.1_Missense_Mutation_p.S768F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1252					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTTCTTTAGAGCCAGAAAT	0.363000										HNSCC(10;0.0054)				14			56		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556775	35556775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:35556775G>A	uc002nxq.2	+	12	1299	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	HPN_uc002nxr.2_Missense_Mutation_p.D352N|HPN_uc010xsh.1_Missense_Mutation_p.D321N|HPN_uc002nxt.1_Missense_Mutation_p.D236N|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	352	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTCCCAGGGCGACAGCGGTGG	0.657000														35			24		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229281	24229281	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:24229281A>T	uc011mjv.2	+	9	2572	c.2323A>T	c.(2323-2325)Aag>Tag	p.K775*	ZFX_uc004dbd.2_Nonsense_Mutation_p.K736*|ZFX_uc004dbf.3_Nonsense_Mutation_p.K736*|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Nonsense_Mutation_p.K736*|ZFX_uc010nfx.2_Nonsense_Mutation_p.K507*|ZFX_uc010nfz.3_Nonsense_Mutation_p.K392*	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGAGCTTAAAAAGCATATGAA	0.413000														33			87		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126781204	126781204	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:126781204C>T	uc003kuh.4	+	20	2909	c.2547C>T	c.(2545-2547)ctC>ctT	p.L849L	MEGF10_uc003kui.4_Silent_p.L849L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	849	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTACTGCTCTCCCTGCTGATT	0.438000														66			24		0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17867105	17867105	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:17867105A>G	uc022asj.1	+	29	5151	c.5129A>G	c.(5128-5130)gAt>gGt	p.D1710G	PCM1_uc003wyi.4_Missense_Mutation_p.D1671G|PCM1_uc011kyh.2_Missense_Mutation_p.D1663G|PCM1_uc003wyj.4_Missense_Mutation_p.D1617G|PCM1_uc011kyi.2_Missense_Mutation_p.D470G|PCM1_uc011kyj.2_Missense_Mutation_p.D427G|PCM1_uc003wyk.4_Missense_Mutation_p.D353G|PCM1_uc011kyk.2_Missense_Mutation_p.D287G	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1671	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGTGGAGAAGATCTTCTTGTA	0.308000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									9			2		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257607	36257607	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:36257607C>G	uc011cow.2	-	9	1289	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	RANBP3L_uc003jkh.3_Missense_Mutation_p.E241Q	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	241					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AATGGTTTTTCCTTGGCATAT	0.313000														91			45		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100515155	100515155	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:100515155C>T	uc003yiv.3	+	26	4245	c.4134C>T	c.(4132-4134)ttC>ttT	p.F1378F	VPS13B_uc003yiw.3_Silent_p.F1378F|VPS13B_uc003yiu.1_Silent_p.F1378F|VPS13B_uc003yix.1_Silent_p.F848F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1378					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGAGAGTTTCAATATTGATC	0.294000														64			85		0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185392	127185392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:127185392G>A	uc004eum.3	-	0	991	c.794C>T	c.(793-795)cCt>cTt	p.P265L		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	265						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGCTGGTCAGGTGCAAAAAG	0.512000														21			46		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4217012	4217012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:4217012G>A	uc010dtt.1	+	17	2131	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	ANKRD24_uc002lzs.2_Missense_Mutation_p.E590K|ANKRD24_uc002lzt.2_Missense_Mutation_p.E591K	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	619								p.K619K(1)		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)		AGCAAACATGGAAACTAAGCC	0.552000														17			11		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221617	5221617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:5221617G>A	uc010qyz.2	-	0	314	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D104E(1)		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)		GGCAATGCAGGAATCCAAGCT	0.532000														33			17		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46401276	46401276	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:46401276C>T	uc003cpn.4	+	2	1535	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L		NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	350					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACAAGGACTCCTCGATGGTC	0.493000														53			49		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139856336	139856336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:139856336C>T	uc003yvd.3	-	3	1171	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	242	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGTGATTTCCTTGGTTCCT	0.478000										HNSCC(7;0.00092)				115			114		0	0	1	0	0
THRA	7067	broad.mit.edu	37	17	38244579	38244579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:38244579G>A	uc021twy.1	+	7	1364	c.808G>A	c.(808-810)Gag>Aag	p.E270K	THRA_uc010cwp.1_Missense_Mutation_p.E270K|THRA_uc002htv.3_Missense_Mutation_p.E270K|THRA_uc002htw.3_Missense_Mutation_p.E270K|THRA_uc002htx.3_Missense_Mutation_p.E270K	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	270	Ligand-binding.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	CTACGACCCTGAGAGCGACAC	0.632000														53			56		0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:62120282T>G	uc002yfe.1	-	6	1419	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	418						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.Y418S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667000														33			7		0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41268892	41268892	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:41268892C>T	uc002ooz.3	+	3	1068	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	171	Pro-rich.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTATGATCCCCCCGCCAGGCC	0.672000														24			15		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									10			3		0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603648	10603648	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:10603648C>T	uc001qyl.3	-	1	322	c.108G>A	c.(106-108)caG>caA	p.Q36Q	KLRC1_uc009zhm.2_Silent_p.Q36Q|KLRC1_uc001qym.3_Silent_p.Q36Q|KLRC1_uc001qyn.3_Silent_p.Q36Q|KLRC1_uc001qyo.3_Silent_p.Q36Q	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	36					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AGGTTATTTCCTGTTCAGTTG	0.393000														56			46		0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71816059	71816059	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:71816059C>T	uc010dqr.1	+	0	314	c.16C>T	c.(16-18)Cta>Tta	p.L6L	FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	6					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TTGTACTTTTCTACGAGCCGT	0.483000														190			53		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786775	121786775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:121786775G>A	uc003ksw.1	+	9	2439	c.2233G>A	c.(2233-2235)Ggc>Agc	p.G745S	SNCAIP_uc011cwl.1_Missense_Mutation_p.G303S|SNCAIP_uc003ksy.1_Missense_Mutation_p.G379S|SNCAIP_uc003ksx.1_Missense_Mutation_p.G792S|SNCAIP_uc003ksz.1_Missense_Mutation_p.G379S|SNCAIP_uc010jcu.2_Missense_Mutation_p.G341S|SNCAIP_uc011cwm.1_Missense_Mutation_p.G379S|SNCAIP_uc003kta.1_Missense_Mutation_p.G377S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G439S|SNCAIP_uc010jcx.1_Missense_Mutation_p.G685S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.G261S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	745					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATCCCTGGATGGCCACAGCCC	0.557000														49			14		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34014390	34014390	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:34014390C>T	uc011kap.2	+	6	944	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	190	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCAAGTGTTCCTGCACTGTAA	0.507000														59			38		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335499	42335499	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:42335499G>A	uc002igf.4	-	10	1286	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	379					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGGCCCCCGAAGAGCTGGC	0.587000														117			36		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70893991	70893991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:70893991G>A	uc002ezr.3	-	70	12257	c.12106C>T	c.(12106-12108)Cac>Tac	p.H4036Y	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4037										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTTCAGGGTGGATGAAGCCC	0.478000														51			20		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25259938	25259938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:25259938C>T	uc001rgh.3	+	19	2304	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F	LRMP_uc010sja.2_Missense_Mutation_p.L404F|LRMP_uc010sjc.2_Missense_Mutation_p.L404F|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.L351F|LRMP_uc010sjd.2_Missense_Mutation_p.L351F	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	460					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GAAGCCAAGTCTTTCTGAAAA	0.343000														17			4		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409168	1409168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1409168C>T	uc003jck.3	-	10	1597	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	491					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCGATGGCTTCGATGAGCACT	0.592000														8			22		0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406126	3406126	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:3406126C>T	uc002cuw.1	+	0	238	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTACTTCTTCCTCAGCAACC	0.517000														83			62		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47630056	47630056	+	Missense_Mutation	SNP	C	T	T	rs141120293		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:47630056C>T	uc001rpq.3	+	1	1735	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	FAM113B_uc001rpn.3_Missense_Mutation_p.R404C|FAM113B_uc021qxi.1_Missense_Mutation_p.R404C	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	404	Pro-rich.						hydrolase activity	p.R404C(4)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TGGCAGGTATCGTCCCCGTGG	0.592000														24			13		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228404	124228404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:124228404C>T	uc001ufr.3	+	9	1359	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	371					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CACTCGGATCCGCACCAACAA	0.433000														104			54		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98506387	98506387	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:98506387C>T	uc003upp.3	+	13	1361	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	TRRAP_uc011kis.2_Silent_p.H384H|TRRAP_uc003upr.3_Silent_p.H76H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	384					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCGTGCACCATGTCCGCC	0.662000														2			2		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509677	23509677	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:23509677G>A	uc003jgo.3	+	2	350	c.168G>A	c.(166-168)agG>agA	p.R56R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	56	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R56S(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGAAAAGGAACTATAATG	0.423000										HNSCC(3;0.000094)				107			30		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130445	34130445	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:34130445C>T	uc001zhi.3	+	88	12334	c.12264C>T	c.(12262-12264)ttC>ttT	p.F4088F	RYR3_uc010bar.3_Silent_p.F4083F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4088					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTGAACTTCTGTGAGGACA	0.453000														61			29		0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36785872	36785872	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:36785872C>T	uc010oia.1	+	13	1636	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	SH3D21_uc010oib.1_Silent_p.P425P|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Silent_p.P182P	NM_001162530	NP_078952	A4FU49	SH321_HUMAN	Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA.	420										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CAGAGGCACCCCCACCCCAGC	0.582000														47			19		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12898338	12898338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:12898338G>A	uc002gnz.4	-	19	1967	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	ELAC2_uc002gnu.4_Missense_Mutation_p.S14F|ELAC2_uc002gnv.4_Missense_Mutation_p.S245F|ELAC2_uc002gnx.4_Missense_Mutation_p.S377F|ELAC2_uc010vvo.2_Missense_Mutation_p.S415F|ELAC2_uc010vvp.2_Missense_Mutation_p.S598F|ELAC2_uc010vvq.2_Missense_Mutation_p.S616F|ELAC2_uc010vvr.2_Missense_Mutation_p.S577F	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	617					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						TGCAGGACTGGAGATCTCAGC	0.468000														127			157		0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72952008	72952008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:72952008C>T	uc003xza.3	-	17	2261	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	696						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGAGAAGCTCTATGCGGTTA	0.299000														35			30		0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089864	220089864	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220089864T>C	uc002vke.1	-	6	631	c.445A>G	c.(445-447)Aag>Gag	p.K149E	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.K149E	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	149					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGATGAACTTGATAAGCCGG	0.512000														59			36		0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46205096	46205096	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:46205096C>T	uc010xxr.2	+	5	1148	c.927C>T	c.(925-927)ccC>ccT	p.P309P	QPCTL_uc010ekn.3_Silent_p.P215P	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA.	309					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGTCTCATCCCCAGGAAGTGA	0.577000														46			18		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665675	20665675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20665675G>A	uc010tlb.2	+	0	181	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCCCAGGGAGGGGCAGATCCT	0.527000														32			17		0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967890	88967890	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:88967890C>T	uc003hre.3	+	5	1503	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	PKD2_uc011cdf.2_Intron	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	472						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTGATTTCTTCCTGGCAGCCT	0.388000														109			32		0	0	1	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223850	142223850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142223850G>A	uc003vyi.2	-	1	334	c.317C>T	c.(316-318)tCg>tTg	p.S106L	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		ATACATGGCCGAGTCCCCAAG	0.522000														70			9		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835968	247835968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:247835968G>A	uc001idi.1	-	0	376	c.376C>T	c.(376-378)Cct>Tct	p.P126S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAATGAAGAGGGAAACAAATG	0.493000														34			9		0	0	1	0	0
COMMD4	54939	broad.mit.edu	37	15	75631649	75631649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75631649C>T	uc002azy.3	+	5	403	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Silent_p.A98A|COMMD4_uc002baa.3_Missense_Mutation_p.P116S|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	116						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GAAGCAAAGCCCCTTGCAGAA	0.602000														31			8		0	0	1	0	0
UCHL5	51377	broad.mit.edu	37	1	192998407	192998407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:192998407G>A	uc001gsm.3	-	5	600	c.467C>T	c.(466-468)tCa>tTa	p.S156L	UCHL5_uc001gso.3_Missense_Mutation_p.S156L|UCHL5_uc001gsn.3_Non-coding_Transcript|UCHL5_uc010pov.2_Intron|UCHL5_uc001gsq.3_Missense_Mutation_p.S156L|UCHL5_uc001gsp.3_Missense_Mutation_p.S156L|UCHL5_uc010pow.1_Missense_Mutation_p.S32L|UCHL5_uc010pox.2_Missense_Mutation_p.S32L	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN	Homo sapiens ubiquitin carboxyl-terminal hydrolase L5 (UCHL5), transcript variant 1, mRNA.	156					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	Ino80 complex|cytosol|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TTCTTTTGCTGATGTCTTCGT	0.308000														26			9		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285838	223285838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:223285838G>A	uc021pjl.1	-	0	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F	TLR5_uc001hnv.2_Missense_Mutation_p.S179F|TLR5_uc001hnw.2_Missense_Mutation_p.S179F	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	179					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TATTTGGTTGGAGGAAAAATC	0.413000														57			24		0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48785706	48785706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:48785706C>T	uc002pil.1	+	4	585	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	ZNF114_uc010elv.1_Missense_Mutation_p.L30F|ZNF114_uc002pim.1_Missense_Mutation_p.L30F|ZNF114_uc002pin.2_5'UTR	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TCAGAGGAATCTCTACAGAGA	0.512000														90			58		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971341	10971341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:10971341C>T	uc002yip.1	-	4	384	c.16G>A	c.(16-18)Gat>Aat	p.D6N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D6N|TPTE_uc002yir.1_Missense_Mutation_p.D6N|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	6					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAGTCGGATCAGGACTAAAG	0.448000														44			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209499	140209499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140209499C>T	uc003lho.2	+	0	1850	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.S608L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S608L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.662000														53			53		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044364	94044364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:94044364G>A	uc001ybv.1	+	14	1940	c.1857G>A	c.(1855-1857)atG>atA	p.M619I	UNC79_uc001ybs.1_Missense_Mutation_p.M619I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	796						integral to membrane		p.M619I(1)|p.M796I(1)		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						ATGATGAAATGAATCTAAATT	0.423000														27			19		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735796	30735796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:30735796C>T	uc002dze.1	+	24	5436	c.5051C>T	c.(5050-5052)gCc>gTc	p.A1684V	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A1479V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1684	Pro-rich.				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)			CTGGCCCTAGCCCCAGCTTTA	0.577000														116			51		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999070	46999070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:46999070G>A	uc001jec.3	+	2	325	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	GPRIN2_uc021ppt.1_Missense_Mutation_p.E64K	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	64										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGCCCCGGAGGAAGAGGGGAA	0.692000														54			10		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954604	79954604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:79954604C>T	uc002kcy.3	+	6	912	c.815C>T	c.(814-816)tCc>tTc	p.S272F	ASPSCR1_uc002kcx.3_Missense_Mutation_p.S272F|ASPSCR1_uc021ufj.1_Missense_Mutation_p.S195F|ASPSCR1_uc002kda.3_Missense_Mutation_p.S195F|ASPSCR1_uc002kdb.1_Missense_Mutation_p.S195F	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	272							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTGCCGAAGTCCCTCTCCAGC	0.652000			T	TFE3	alveolar soft part sarcoma									54			17		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39984649	39984649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:39984649C>T	uc010ggh.3	+	13	1872	c.1781C>T	c.(1780-1782)tCc>tTc	p.S594F	LPIN3_uc002xjx.3_Missense_Mutation_p.S593F|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	593	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TACAAGAAGTCCCTCCGCCTC	0.587000														84			21		0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382582	33382582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33382582C>T	uc003oeh.3	+	10	1261	c.1025C>T	c.(1024-1026)cCt>cTt	p.P342L	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Missense_Mutation_p.P342L|PHF1_uc010jux.3_Missense_Mutation_p.P142L	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	342					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTGGAGCCCCCTACTGGAGAT	0.527000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		78			51		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40015403	40015403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40015403C>T	uc003ayc.3	+	3	571	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	CACNA1I_uc003ayd.3_Missense_Mutation_p.R191C|CACNA1I_uc003aye.3_Missense_Mutation_p.R106C|CACNA1I_uc003ayf.3_Missense_Mutation_p.R106C	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	191					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AGCCATCAACCGCGTGCCCAG	0.622000														80			30		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24784836	24784836	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:24784836C>T	uc001mqs.3	+	4	652	c.378C>T	c.(376-378)atC>atT	p.I126I	LUZP2_uc009yif.3_Silent_p.I40I|LUZP2_uc009yig.3_Silent_p.I126I	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	126						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAAAATGATCCGAGACCTCC	0.294000														21			17		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519615	53519615	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:53519615G>A	uc003pcb.4	-	1	597	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CAAGAGTATGGATCTGAAGAT	0.393000														95			77		0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319312	83319312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:83319312C>T	uc004eej.2	-	21	2247	c.2211G>A	c.(2209-2211)atG>atA	p.M737I	RPS6KA6_uc011mqt.2_Missense_Mutation_p.M737I|RPS6KA6_uc011mqu.2_Missense_Mutation_p.M634I	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	737					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTCGCTTTTTCATGCTCCGTC	0.453000														1			11		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925420	70925420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70925420G>A	uc021rvq.1	+	0	1204	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	ADAM21_uc001xmd.3_Missense_Mutation_p.E402K	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	402					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGATTGGGGGAAATCTTTAT	0.458000														51			28		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784905	90784905	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:90784905C>T	uc002bpc.3	+	3	944	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GDPGP1_uc021suh.1_Silent_p.F255F	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	255					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CTCCTGGCTTCCTCTTTTACA	0.577000														18			11		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216763	1216763	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1216763G>A	uc003jbw.4	+	6	1034	c.978G>A	c.(976-978)ggG>ggA	p.G326G		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	326					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G326W(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCGTCATTGGGTTCCGCGCCA	0.597000														61			40		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62751564	62751564	+	Silent	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:62751564A>C	uc003dll.2	-	1	897	c.537T>G	c.(535-537)gcT>gcG	p.A179A	CADPS_uc003dlm.2_Silent_p.A179A|CADPS_uc003dln.2_Silent_p.A179A|CADPS_uc021wzv.1_Silent_p.A179A	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	179					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.N178K(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AACTCTGCACAGCGTTCATGA	0.522000														66			14		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705156	2705156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:2705156C>T	uc009zdu.1	+	19	3093	c.2780C>T	c.(2779-2781)tCc>tTc	p.S927F	CACNA1C_uc001qkc.2_Missense_Mutation_p.S927F|CACNA1C_uc001qjz.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkd.2_Missense_Mutation_p.S927F|CACNA1C_uc001qke.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkf.2_Missense_Mutation_p.S927F|CACNA1C_uc009zdw.1_Missense_Mutation_p.S927F|CACNA1C_uc001qkg.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkh.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkl.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkj.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkk.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkn.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkm.2_Missense_Mutation_p.S927F|CACNA1C_uc001qko.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkp.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkq.2_Missense_Mutation_p.S927F|CACNA1C_uc001qku.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkr.2_Missense_Mutation_p.S927F|CACNA1C_uc001qks.2_Missense_Mutation_p.S927F|CACNA1C_uc001qkt.2_Missense_Mutation_p.S927F|CACNA1C_uc009zdv.1_Missense_Mutation_p.S924F|CACNA1C_uc001qkb.2_Missense_Mutation_p.S927F|CACNA1C_uc001qka.1_Missense_Mutation_p.S462F|CACNA1C_uc001qki.1_Missense_Mutation_p.S663F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	927					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)	CAGCACACCTCCTTCAGGAAC	0.542000														44			23		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795684	133795684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:133795684C>T	uc001qgx.4	-	13	2215	c.1984G>A	c.(1984-1986)Gat>Aat	p.D662N	IGSF9B_uc001qgy.1_Missense_Mutation_p.D504N	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	662	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGATGCCATCGTCGAGCAAC	0.597000														11			21		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975487	51975487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:51975487G>A	uc002abh.3	+	3	656	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	85					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACAGAAAAGGAAAAAATTGA	0.373000														94			51		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43895991	43895991	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:43895991C>T	uc010skx.2	-	3	831	c.831G>A	c.(829-831)tcG>tcA	p.S277S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	277	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGCAAATTCGATCCATGAG	0.289000														7			9		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35969476	35969476	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:35969476G>A	uc004ddj.3	+	5	951	c.885_splice	c.e5+1	p.L295_splice	CXorf22_uc010ngv.3_Splice_Site	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	295										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAGAAGAATTGGTAAGTAAGT	0.348000														4			6		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148388497	148388497	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:148388497A>G	uc003lpu.3	-	14	3547	c.3395T>C	c.(3394-3396)cTg>cCg	p.L1132P	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.L776P|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.L679P|SH3TC2_uc010jgx.3_Missense_Mutation_p.L1125P	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	1132							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCTGTCAGCTTATTGAA	0.527000														99			33		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83549909	83549909	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:83549909C>T	uc003kio.1	-	1	608	c.189G>A	c.(187-189)gtG>gtA	p.V63V	EDIL3_uc003kip.1_Silent_p.V63V	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	63					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TACCAACCTCCACAACACTAG	0.403000														26			20		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160059352	160059352	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:160059352C>T	uc003lym.1	-	12	2251	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	ATP10B_uc003lyn.3_Silent_p.K26K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	468					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCCAGCTCCTTTGGGGTCT	0.517000														55			65		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680314	216680314	+	Silent	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:216680314T>C	uc001hkw.2	-	6	1517	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	ESRRG_uc009xdp.1_Silent_p.K425K|ESRRG_uc001hky.1_Silent_p.K425K|ESRRG_uc001hkz.2_Silent_p.K386K|ESRRG_uc010puc.2_Silent_p.K425K|ESRRG_uc001hla.2_Silent_p.K425K|ESRRG_uc001hlb.2_Silent_p.K425K|ESRRG_uc010pud.2_Silent_p.K263K|ESRRG_uc021pja.1_Silent_p.K197K|ESRRG_uc001hlc.1_Silent_p.K425K|ESRRG_uc001hld.1_Silent_p.K425K|ESRRG_uc001hkx.2_Silent_p.K460K|ESRRG_uc009xdo.2_Silent_p.K425K|ESRRG_uc001hle.2_Silent_p.K425K|ESRRG_uc021piz.1_Silent_p.K425K	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	448					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCAAAAAAAGTTTGTGCATTG	0.468000														44			12		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120383218	120383218	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:120383218G>A	uc002tmb.3	+	15	1724	c.612G>A	c.(610-612)gaG>gaA	p.E204E	PCDP1_uc010yyq.2_Silent_p.E334E	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	490						cilium	calmodulin binding	p.E204D(1)				Colorectal(110;0.196)					TGGACAAAGAGAGTATACTGA	0.413000														46			23		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408570	29408570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:29408570C>T	uc011dlp.2	+	0	855	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATCTATATTCGCCCTAAGGC	0.582000														295			180		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41571226	41571226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:41571226C>T	uc002idu.1	+	7	1256	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	DHX8_uc010wif.1_Missense_Mutation_p.S304F|DHX8_uc010wig.2_Missense_Mutation_p.S395F	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	395						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCCGAATCTCTGACCCAGAG	0.522000														86			29		0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46539609	46539609	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:46539609G>A	uc003cps.1	+	0	125	c.57G>A	c.(55-57)gtG>gtA	p.V19V		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	19					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TGCGGGAGGTGAAGCCATGGC	0.587000														53			29		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977272	46977272	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:46977272G>A	uc003oyt.3	-	10	2098	c.1899C>T	c.(1897-1899)tcC>tcT	p.S633S	GPR110_uc011dwl.2_Silent_p.S321S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	633					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAATCAAGAGGGACAGGGCTA	0.458000														32			16		0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200607	123200607	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:123200607G>A	uc001ucy.4	-	0	833	c.678C>T	c.(676-678)atC>atT	p.I226I	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	226						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TGGCTCTCTTGATCTTGGCAT	0.552000														23			15		0	0	1	0	0
FKBP3	2287	broad.mit.edu	37	14	45603623	45603623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:45603623C>T	uc010tqf.2	-	0	387	c.37G>A	c.(37-39)Gag>Aag	p.E13K	FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.4_5'Flank|FANCM_uc010anf.3_5'Flank	NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	13					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CGCAGCTGCTCCACGGTCCAC	0.662000														41			23		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95735798	95735798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:95735798C>T	uc003kls.2	-	9	1528	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	PCSK1_uc010jbi.2_Missense_Mutation_p.G120E|PCSK1_uc021ybq.1_Missense_Mutation_p.G383E	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	430					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGCCTGCTCCATTCTTTTT	0.532000														67			58		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307514	140307514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140307514C>T	uc003lih.2	+	0	1213	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.S346L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACTCTTTCGAACCCAGTA	0.517000														80			99		0	0	1	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428703	142428703	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142428703G>A	uc011ksk.1	+	1	80	c.63G>A	c.(61-63)gtG>gtA	p.V21V	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR					SubName: Full=V_segment translation product; Flags: Fragment;																		TCGTAGATGTGAAAGTAACCC	0.428000														13			9		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81324154	81324154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:81324154C>T	uc002fgn.1	+	10	1834	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	BCMO1_uc010vnp.1_Missense_Mutation_p.S470F	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	539					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACAGGGCTTCCGACTGCCAC	0.537000														50			26		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286782	55286782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55286782G>A	uc010erz.1	+	3	574	c.536G>A	c.(535-537)gGa>gAa	p.G179E	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G179E	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	179	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AAGGTCAACGGAACATTCCAG	0.577000														101			48		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1386255	1386255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:1386255G>A	uc002fsp.3	-	3	666	c.446C>T	c.(445-447)gCc>gTc	p.A149V	MYO1C_uc002fsn.3_Missense_Mutation_p.A130V|MYO1C_uc002fso.3_Missense_Mutation_p.A114V|MYO1C_uc010vqj.1_Missense_Mutation_p.A114V|MYO1C_uc010vqk.1_Missense_Mutation_p.A125V	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	149	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTCTTGGTGGCCTCGGTCTT	0.672000														27			10		0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101771168	101771168	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:101771168A>T	uc001pgl.3	-	6	1250	c.654T>A	c.(652-654)gaT>gaA	p.D218E		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	218	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCTAGAAGATCTCCAAATC	0.348000														67			16		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29641914	29641914	+	Silent	SNP	C	T	T	rs139267044	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:29641914C>T	uc001bru.3	+	23	3417	c.3288C>T	c.(3286-3288)atC>atT	p.I1096I	PTPRU_uc009vtq.3_Silent_p.I1092I|PTPRU_uc009vtr.3_Silent_p.I1083I|PTPRU_uc001brw.3_Silent_p.I1086I	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1096	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTGCTATATCGTCCTGGATG	0.582000														87			28		0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151757651	151757651	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:151757651C>A	uc003qoi.2	-	2	723	c.543G>T	c.(541-543)gaG>gaT	p.E181D	RMND1_uc011eeq.1_5'UTR|RMND1_uc003qoj.3_Missense_Mutation_p.E181D|RMND1_uc011eer.1_Missense_Mutation_p.E181D	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.	181										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)		CCAGATGATACTCATCTGCCG	0.488000														82			3		0.150653	0.150861	1	1	0
MAD2L1	4085	broad.mit.edu	37	4	120981287	120981287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:120981287G>A	uc003idl.2	-	4	728	c.604C>T	c.(604-606)Cct>Tct	p.P202S	MAD2L1_uc003idm.2_3'UTR	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA.	202	Required for assuming the closed conformation and for interaction with CDC20.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TCATTGACAGGAATTTTGTAG	0.353000														94			27		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17109539	17109539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:17109539G>A	uc011awc.2	+	5	3258	c.3162G>A	c.(3160-3162)tgG>tgA	p.W1054*	PLCL2_uc011awd.2_Nonsense_Mutation_p.W936*	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1062					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTTTACCTGGAATATTACCA	0.408000														84			25		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413575	178413575	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:178413575C>T	uc003mjr.3	-	7	1859	c.1680G>A	c.(1678-1680)ggG>ggA	p.G560G	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.G143G|GRM6_uc003mjs.1_Silent_p.G180G	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	560					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)		GCCTCATGTCCCCAGGACAGG	0.692000														23			23		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785930	111785930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:111785930C>T	uc001tsa.2	+	21	4416	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1421	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTCCCATCTCCCCATCCCCA	0.662000														40			23		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57528453	57528453	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:57528453G>T	uc003dit.2	-	1	326	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	DNAH12_uc003diu.2_Missense_Mutation_p.Q49K	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	49	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTGCTGCTGCTCCTTGGAT	0.363000														38			23		7.26314e-15	7.30335e-15	1	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51961520	51961520	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:51961520A>C	uc002pwt.3	-	0	189	c.122T>G	c.(121-123)cTg>cGg	p.L41R	SIGLEC8_uc010yda.2_Missense_Mutation_p.L41R|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.L41R	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	41	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.L41M(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGGACACACAGGCCCTCCTG	0.597000														79			49		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535210	96535211	+	Missense_Mutation	DNP	GG	AA	AA	rs72552267	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96535210_96535211GG>AA	uc010qnz.2	+	2	395_396	c.395_396GG>AA	c.(394-396)cgg>cAA	p.R132Q	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R110Q	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATGACGCTGCGGAATTTTGGGA	0.510000														49			35		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140767861C>T	uc003lkc.2	+	0	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	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_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	137	Cadherin 2.				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)			ACGCAAAATTCCTTTGAGCTG	0.433000														23			38		0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33168121	33168121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33168121G>A	uc003odb.3	-	0	312	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S	RXRB_uc003odc.3_Missense_Mutation_p.P45S|RXRB_uc011dqr.2_Intron|RXRB_uc011dqs.1_Missense_Mutation_p.P45S|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_Missense_Mutation_p.P45S|RXRB_uc011dqu.1_Silent_p.I31I|SLC39A7_uc003odf.3_5'Flank|SLC39A7_uc003odg.3_5'Flank|SLC39A7_uc011dqv.2_5'Flank	NM_021976	NP_068811	P28702	RXRB_HUMAN	Homo sapiens retinoid X receptor, beta (RXRB), mRNA.	45	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	gccgctgcGGGATCCAGCCAG	0.741000														8			8		0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9683185	9683185	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:9683185C>T	uc010vvb.2	-	2	451	c.438G>A	c.(436-438)aaG>aaA	p.K146K	DHRS7C_uc010cof.3_Silent_p.K145K	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	146						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CATCCATGATCTTTTTGTCGA	0.493000														10			11		0	0	1	0	0
KIAA1143	57456	broad.mit.edu	37	3	44795030	44795030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:44795030G>A	uc011bac.2	-	2	347	c.268C>T	c.(268-270)Cca>Tca	p.P90S		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	Homo sapiens KIAA1143 (KIAA1143), mRNA.	90										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		CCATCGGCTGGAGTTGGTTCT	0.338000														28			30		0	0	1	0	0
P2RX3	5024	broad.mit.edu	37	11	57114888	57114888	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57114888G>A	uc001nju.3	+	4	512	c.328_splice	c.e4-1	p.S110_splice		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	110					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						TCTGCCCACAGAGTGAGGAGA	0.622000														2			8		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40810325	40810326	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:40810325_40810326GG>AA	uc003gvj.4	+	11	2021_2022	c.1526_1527GG>AA	c.(1525-1527)cgg>cAA	p.R509Q	NSUN7_uc003gvi.4_Missense_Mutation_p.G468K	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TAATTGCAGCGGGACCCTTCTG	0.416000														53			44		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558676	118558676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:118558676C>T	uc001ehk.2	-	28	4267	c.4199G>A	c.(4198-4200)gGa>gAa	p.G1400E		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1400						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATCCGATTTCCTTCAGGTGT	0.478000														62			19		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147159	26147159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:26147159C>T	uc002dof.3	+	1	1353	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	321					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AAACCGGACCCTCGGGCTGAT	0.547000														134			68		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180116	124180116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:124180116G>A	uc010sag.2	-	0	547	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTGAGGAGGGGAAGAACATCA	0.458000														12			21		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52484400	52484400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:52484400G>A	uc002egw.2	-	3	638	c.467C>T	c.(466-468)tCc>tTc	p.S156F	TOX3_uc010vgt.1_Missense_Mutation_p.S151F	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	156					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.R155R(1)|p.R155W(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGACGATGGACCGCATGAT	0.557000														63			40		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718539	117718539	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:117718539C>T	uc001twn.2	-	7	2226	c.1515G>A	c.(1513-1515)caG>caA	p.Q505Q	NOS1_uc021ren.1_Silent_p.Q169Q|NOS1_uc021reo.1_Silent_p.Q169Q|NOS1_uc001twm.2_Silent_p.Q505Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	505					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTCTGTGAACTGCACATTGG	0.592000														35			19		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395143	115395143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:115395143G>A	uc003ebr.2	+	2	1096	c.422G>A	c.(421-423)gGa>gAa	p.G141E	GAP43_uc003ebq.2_Missense_Mutation_p.G105E	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	105					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGCAAAGCAGGAGAAACTCCT	0.637000														23			31		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629394	1629394	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:1629394C>T	uc001ltw.1	-	0	300	c.222G>A	c.(220-222)aaG>aaA	p.K74K	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	74	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CACAGCCCCCCTTGCAGCCCC	0.677000														94			88		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903156	22903156	+	Silent	SNP	G	A	A	rs55952392		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:22903156G>A	uc001bfx.1	+	2	731	c.606G>A	c.(604-606)aaG>aaA	p.K202K	EPHA8_uc001bfw.3_Silent_p.K202K	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	202	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTACTATAAGAAGTGCCCTG	0.642000														12			13		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502688	64502688	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:64502688C>T	uc009ypu.3	-	11	1535	c.1308G>A	c.(1306-1308)cgG>cgA	p.R436R	RASGRP2_uc001oat.3_Silent_p.R338R|RASGRP2_uc001oau.3_Silent_p.R291R|RASGRP2_uc009ypv.3_Silent_p.R436R|RASGRP2_uc009ypw.3_Silent_p.R436R	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	436	EF-hand 1.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTCAAAGTTCCGGAACACAG	0.572000														16			24		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50690906	50690906	+	Missense_Mutation	SNP	G	A	A	rs61760163	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:50690906G>A	uc001jhs.4	-	9	2150	c.1996C>T	c.(1996-1998)Cgc>Tgc	p.R666C	ERCC6_uc010qgr.2_Missense_Mutation_p.R36C|ERCC6_uc001jhr.4_Missense_Mutation_p.R66C	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	666	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGAGGGGTGCGAAACTATTTG	0.433000								Direct reversal of damage;Nucleotide excision repair (NER)						32			17		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49440517	49440517	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:49440517C>A	uc001rta.4	-	14	4293	c.4293G>T	c.(4291-4293)gaG>gaT	p.E1431D		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1431	Cys-rich.				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						GGCCACACACCTCACACACAA	0.572000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				48			3		1	1	1	1	0
SPIB	6689	broad.mit.edu	37	19	50923210	50923210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50923210G>A	uc002psd.3	+	1	56	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	SPIB_uc021uyc.1_5'UTR|SPIB_uc002pse.3_Missense_Mutation_p.G11R|SPIB_uc010ycc.2_5'UTR	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	11	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CAGGCTCGACGGGCCACACTT	0.647000														12			4		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:96761854G>A	uc003htr.4	+	0	616	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	185					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.N184N(3)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAAGGAAACGATGAGATCTG	0.483000														26			43		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39627804	39627804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:39627804C>T	uc003axf.3	-	3	1268	c.279G>A	c.(277-279)atG>atA	p.M93I	PDGFB_uc003axe.3_Missense_Mutation_p.M78I	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	93					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	ACTCGGCGATCATGGCCGGCT	0.647000			T	COL1A1	DFSP									21			5		0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33234753	33234753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:33234753C>T	uc010dmu.3	+	1	180	c.127C>T	c.(127-129)Cct>Tct	p.P43S	GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.P43S|GALNT1_uc002kzb.3_Missense_Mutation_p.P43S	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	43					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GAGAGGACTTCCTGCTGGAGA	0.353000														32			15		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626828	108626828	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:108626828C>T	uc002tdv.3	+	8	1530	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	SLC5A7_uc010ywm.2_Silent_p.F171F|SLC5A7_uc010fjj.3_Silent_p.F418F|SLC5A7_uc010ywn.2_Silent_p.F305F	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	418					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.I417I(1)		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)	TCGTTATCTTCCCCCAGCTGC	0.498000														41			21		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183635317	183635317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:183635317G>A	uc003ivd.1	+	11	2374	c.2299G>A	c.(2299-2301)Gga>Aga	p.G767R	ODZ3_uc003ive.1_Missense_Mutation_p.G173R	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	767	EGF-like 8.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GTGCCAGCCTGGATGGAGAGG	0.502000														27			36		0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137293577	137293577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:137293577C>T	uc004cfb.2	+	1	290	c.128C>T	c.(127-129)tCc>tTc	p.S43F	RXRA_uc004cfa.1_Silent_p.L93L	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	43	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGCATCGGCTCCCCGGGACAG	0.687000														55			42		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719493	108719493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:108719493C>T	uc003dxl.3	-	20	2185	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	MORC1_uc011bhn.2_Missense_Mutation_p.E679K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	700					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTTCATTTCCCAAGAAGCG	0.373000														69			15		0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956522	188956522	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:188956522G>A	uc003frv.2	+	9	1530	c.303_splice	c.e9-1	p.K101_splice	TPRG1_uc003frw.2_Splice_Site_p.K101_splice	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	101										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATTCCTATAGGATAGACCACT	0.398000														56			37		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537690	15537690	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:15537690T>C	uc002yjm.3	-	5	828	c.818A>G	c.(817-819)aAc>aGc	p.N273S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.N222S|LIPI_uc021whh.1_Missense_Mutation_p.N252S|LIPI_uc021whi.1_Missense_Mutation_p.N87S|LIPI_uc021whj.1_Missense_Mutation_p.N252S|LIPI_uc021whe.1_Intron|LIPI_uc021whf.1_Missense_Mutation_p.N252S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	252					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCTCTGGTGGTTGCATTTAAT	0.308000														22			16		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51930911	51930911	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:51930911C>T	uc003dbv.3	-	3	207	c.109_splice	c.e3-1	p.A37_splice	IQCF1_uc003dbq.4_Splice_Site	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	37										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGTTTTAGCCTGAAAAGGAA	0.428000														92			29		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22990188	22990188	+	Silent	SNP	C	T	T	rs148724829		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:22990188C>T	uc001yus.3	+	23	2912	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	CYFIP1_uc001yut.3_Silent_p.V936V|CYFIP1_uc010aya.1_Silent_p.V964V|CYFIP1_uc001yuu.3_Silent_p.V505V|CYFIP1_uc001yuv.3_Silent_p.V130V	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	936					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGCTGAAGGTCGTCAAGAGCC	0.582000														37			22		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74968155	74968155	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:74968155G>A	uc002lms.4	+	1	1205	c.708G>A	c.(706-708)aaG>aaA	p.K236K		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	236					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACATGTCAAAGAAGTCTGAAG	0.348000														78			37		0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179674	34179674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:34179674C>T	uc001rlm.3	+	2	1565	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.348000														78			43		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988269	113988269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:113988269G>A	uc003ynu.3	-	6	1298	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	CSMD3_uc003ynt.3_Missense_Mutation_p.S340F|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	380						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						TGTAACACTGGATACAGTAAC	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				33			45		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186092168	186092168	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:186092168C>T	uc001grq.1	+	80	12544	c.12315C>T	c.(12313-12315)ctC>ctT	p.L4105L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4105	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGGCCTCCCTCCGCCTG	0.473000														41			43		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828763	13828763	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:13828763C>T	uc001rbt.2	-	3	1220	c.1041G>A	c.(1039-1041)agG>agA	p.R347R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	347					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)	AGGACAAATTCCTCCCCTCAA	0.403000														35			19		0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53345285	53345285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:53345285G>A	uc002qaf.3	-	3	413	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	ZNF468_uc002qae.3_Missense_Mutation_p.H35Y|ZNF468_uc021uzb.1_Missense_Mutation_p.H35Y	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TCAATTTCATGGAAACAAAAT	0.438000														70			38		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963358	196963358	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:196963358G>A	uc001gts.4	+	3	707	c.579G>A	c.(577-579)ggG>ggA	p.G193G		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	193	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCAATTTGGGTGGTCACCTA	0.318000														102			35		0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38712071	38712071	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:38712071C>T	uc001rln.4	+	1	319	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	60					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGTGGGATCCCATGATTACTA	0.418000														108			71		0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246797840	246797840	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:246797840A>G	uc001ibp.3	+	5	1147	c.769A>G	c.(769-771)Aat>Gat	p.N257D	CNST_uc001ibo.4_Missense_Mutation_p.N257D	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	257					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AAAGGGATTTAATGGTGAAGA	0.333000														74			65		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076735	9076735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9076735C>T	uc002mkp.3	-	2	10915	c.10711G>A	c.(10711-10713)Gag>Aag	p.E3571K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3572	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCGCCTCTCTGTGGCCGGG	0.517000														57			32		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253736	81253736	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:81253736G>A	uc002fgh.1	-	0	240	c.240C>T	c.(238-240)tcC>tcT	p.S80S	PKD1L2_uc002fgj.3_Silent_p.S80S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	80	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTGTCCTGGGAGATGTGCT	0.552000														52			37		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18283920	18283920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:18283920G>A	uc004cyl.2	-	7	890	c.733C>T	c.(733-735)Cct>Tct	p.P245S	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.P245S|SCML2_uc011miz.1_Missense_Mutation_p.P179S|SCML2_uc010nfc.2_5'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	245					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACAATAGGAACTGAGGAA	0.333000														5			14		0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:57228854G>A	uc010lyk.1	-	1	691	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_uc003xsy.1_Missense_Mutation_p.S18L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S18L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	18					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						ACTAAACAGTGATTTTCCTAA	0.418000														46			41		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665886	20665886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:20665886C>T	uc010tlb.2	+	0	392	c.392C>T	c.(391-393)tCg>tTg	p.S131L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AAGATCATCTCGTTCTCTGGC	0.483000														16			11		0	0	1	0	0
SPATA22	84690	broad.mit.edu	37	17	3365798	3365798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3365798C>T	uc002fvm.3	-	4	546	c.308G>A	c.(307-309)gGa>gAa	p.G103E	SPATA22_uc010vrg.2_Missense_Mutation_p.G87E|SPATA22_uc010vrf.2_Missense_Mutation_p.G103E|SPATA22_uc002fvo.3_Missense_Mutation_p.G103E|SPATA22_uc002fvn.3_Missense_Mutation_p.G103E|SPATA22_uc002fvp.3_Missense_Mutation_p.G103E|SPATA22_uc010ckf.3_Missense_Mutation_p.G60E	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	103										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CTGGCTTCTTCCAGTATTTGA	0.388000														54			64		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146825844	146825844	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:146825844C>T	uc003weu.2	+	6	1515	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	333	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAAGAATTTCAAAGGCTGCA	0.413000										HNSCC(39;0.1)				59			26		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887578	3887578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:3887578C>T	uc003bpt.4	+	1	2014	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.S418L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	418	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATCCAGGATTCGAGTGAACAG	0.498000														112			17		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780987	88780987	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:88780987C>T	uc001pcq.3	-	0	254	c.54G>A	c.(52-54)ggG>ggA	p.G18G	GRM5_uc009yvm.3_Silent_p.G18G|GRM5_uc009yvn.2_Silent_p.G18G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	18					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R17C(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACTGTGCACTCCCACGGACAT	0.468000														35			36		0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42626516	42626516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:42626516C>T	uc002osp.3	-	2	171	c.109G>A	c.(109-111)Gga>Aga	p.G37R	POU2F2_uc002osn.3_Missense_Mutation_p.G37R|POU2F2_uc002osq.3_Missense_Mutation_p.G37R|POU2F2_uc002osr.2_Missense_Mutation_p.G37R	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	37					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GTGTCTGGTCCATTTCTTTCG	0.572000														89			51		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113194892	113194892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:113194892G>A	uc010mtz.3	-	30	5420	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1695	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			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						TTCTCCAAAGGAGGTGGCACC	0.448000														73			29		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432608	104432608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:104432608C>T	uc004bbp.2	-	2	2687	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E696K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	696					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTCTTCCATTCATACAGAGTG	0.488000														58			33		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080475	40080475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:40080475C>T	uc003ayc.3	+	35	5999	c.5999C>T	c.(5998-6000)cCa>cTa	p.P2000L	CACNA1I_uc003ayd.3_Missense_Mutation_p.P1965L|CACNA1I_uc003aye.3_Missense_Mutation_p.P1915L|CACNA1I_uc003ayf.3_Missense_Mutation_p.P1880L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	2000					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTGCGGTCACCAAGGGTCAAC	0.627000														17			8		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886748	25886748	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:25886748G>A	uc001isj.3	+	10	2253	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	GPR158_uc001isk.3_Silent_p.K106K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	731						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R730I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATAAAAGAAAGAAGATGATCA	0.438000														63			38		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607771	84607771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:84607771G>A	uc004amn.3	+	3	2433	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	796						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						TTCAGACAAGGATCTGAGGTC	0.463000														64			22		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783743	169783743	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:169783743T>A	uc002ueo.1	-	25	3667	c.3541A>T	c.(3541-3543)Aaa>Taa	p.K1181*	ABCB11_uc010zda.1_Nonsense_Mutation_p.K599*|ABCB11_uc010zdb.1_Nonsense_Mutation_p.K657*	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1181	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GGAATTTCTTTGGTGTTGTCT	0.443000														66			32		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155902	106155902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:106155902C>T	uc011cez.2	+	2	1271	c.866C>T	c.(865-867)tCg>tTg	p.S289L	TET2_uc003hxk.3_Missense_Mutation_p.S268L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S268L|TET2_uc010ilp.2_Missense_Mutation_p.S268L|TET2_uc021xql.1_Missense_Mutation_p.S268L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	268					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S268W(1)|p.A289fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACTCACCCATCGCATACCTCA	0.498000			"""Mis N, F"""		MDS									38			12		0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6252883	6252883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:6252883G>A	uc003zjt.3	+	4	439	c.361G>A	c.(361-363)Gag>Aag	p.E121K	IL33_uc011lmg.2_Intron|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.E79K	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	121					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACCTATTACAGAGTATCTTGC	0.313000														19			26		0	0	1	0	0
OR1J4	26219	broad.mit.edu	37	9	125281758	125281758	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:125281758C>T	uc011lyw.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TAGACAATTTCCTTCTCACTT	0.408000														53			37		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:17091331G>A	uc002nfb.3	-	13	1734	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTGTTAAACGAATCGGTTTC	0.592000														42			24		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661463	77661463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:77661463G>A	uc011cbx.2	+	4	3090	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	SHROOM3_uc011cbz.1_Missense_Mutation_p.G537R|SHROOM3_uc003hkf.1_Missense_Mutation_p.G588R|SHROOM3_uc003hkg.3_Missense_Mutation_p.G491R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	713					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGACCTCGGGAGCCATCT	0.672000														64			61		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839538	27839538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:27839538C>T	uc022bud.1	+	0	115	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	MAGEB10_uc004dbw.3_Missense_Mutation_p.P39S	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	39								p.P39A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGAAGAATCTCCCCCCTCTGC	0.522000														4			17		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150556125	150556125	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150556125C>T	uc003why.1	+	3	6063	c.1845C>T	c.(1843-1845)atC>atT	p.I615I	ABP1_uc003whz.1_Silent_p.I615I|ABP1_uc003wia.1_Silent_p.I615I	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	615					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCAGGCCATCACCTGGGCAA	0.642000														9			5		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726701	12726701	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:12726701C>T	uc001auf.3	+	3	1179	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	393						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCCATGTTCCCTGAAGATTG	0.483000														19			37		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231343	21231343	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:21231343G>A	uc002red.3	-	25	8525	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2799					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTCTAATTTGGACTCTCCTT	0.438000														33			22		0	0	1	0	0
STMN1	3925	broad.mit.edu	37	1	26230178	26230178	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:26230178A>C	uc010oev.2	-	2	316	c.140T>G	c.(139-141)cTg>cGg	p.L47R	STMN1_uc001bkz.3_Missense_Mutation_p.L47R|STMN1_uc001blb.3_Missense_Mutation_p.L47R|STMN1_uc001bla.3_Missense_Mutation_p.L47R|STMN1_uc001blc.3_Missense_Mutation_p.L47R	NM_001145454	NP_001138926	P16949	STMN1_HUMAN	Homo sapiens stathmin 1 (STMN1), transcript variant 4, mRNA.	47					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTCCTCCAGGGAAAGATC	0.448000														108			42		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094850	79094850	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:79094850G>A	uc010dia.3	-	10	2966	c.2886C>T	c.(2884-2886)gcC>gcT	p.A962A	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Silent_p.A859A	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	962						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTCCGCAAAGGCCTGGGGCT	0.642000														25			6		0	0	1	0	0
BDKRB1	623	broad.mit.edu	37	14	96730172	96730172	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:96730172C>T	uc021sbj.1	+	0	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G	BDKRB1_uc001yfh.3_Silent_p.G51G	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	51					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GTTTCTTCGGCCTCCTAGGGA	0.547000														30			14		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701924	181701924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:181701924G>A	uc009wxt.3	+	19	2897	c.2702G>A	c.(2701-2703)gGa>gAa	p.G901E	CACNA1E_uc001gow.3_Missense_Mutation_p.G901E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G882E|CACNA1E_uc001gox.1_Missense_Mutation_p.G127E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	901					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G901R(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGCAGGGGGAGGAGAGGCT	0.662000														44			23		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457342	142457342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142457342C>T	uc003wak.2	+	0	24	c.7C>T	c.(7-9)Cca>Tca	p.P3S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.P3S|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	3					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACCATGAATCCACTCCTGAT	0.572000														90			42		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039314	89039314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:89039314C>T	uc001xww.3	+	5	1049	c.824C>T	c.(823-825)cCg>cTg	p.P275L	ZC3H14_uc010twd.2_Missense_Mutation_p.P275L|ZC3H14_uc010twe.2_Missense_Mutation_p.P275L|ZC3H14_uc001xwx.3_Missense_Mutation_p.P275L|ZC3H14_uc010twf.2_Missense_Mutation_p.P120L|ZC3H14_uc001xwy.3_Missense_Mutation_p.P241L|ZC3H14_uc010twg.2_Missense_Mutation_p.P120L|ZC3H14_uc001xxa.3_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	275						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding	p.S274S(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACGTATAGTCCGTTCTTTAGA	0.393000														38			31		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94048566	94048566	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:94048566G>A	uc001ybv.1	+	16	2231	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	UNC79_uc001ybs.1_Silent_p.L716L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	893						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						CAGACAGCCTGGAGGATAGCC	0.557000														52			18		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15853087	15853087	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:15853087G>A	uc010xoq.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCAGTCTAAGGAACAAGGAGC	0.438000														97			42		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283082	69283082	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:69283082C>T	uc004dxu.1	+	0	742	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	236	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						TCGAGGTGATCCAGGCCGACT	0.612000														5			19		0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7811370	7811370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:7811370G>A	uc011bwk.1	-	8	1298	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	AFAP1_uc003gkg.1_Missense_Mutation_p.S342F	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	342						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCAGCTGAGGAGGTCTGCTC	0.527000														25			33		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90585122	90585122	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:90585122C>G	uc003uky.2	+	8	1159	c.937C>G	c.(937-939)Ctt>Gtt	p.L313V	CDK14_uc003ukz.1_Missense_Mutation_p.L295V|CDK14_uc010les.1_Missense_Mutation_p.L267V|CDK14_uc011khl.1_Missense_Mutation_p.L184V	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	313	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTCCACCTGCCTTGACATGTG	0.453000														51			23		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39041266	39041266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:39041266C>T	uc002hvl.3	-	0	230	c.172G>A	c.(172-174)Gat>Aat	p.D58N		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	58	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	p.S57S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CCTGTGAGATCGCTCCCATAG	0.592000														54			62		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622000	31622000	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:31622000T>A	uc010zuc.2	+	2	206	c.206T>A	c.(205-207)gTg>gAg	p.V69E	BPIFB6_uc010zud.2_Missense_Mutation_p.V8E	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	69						extracellular region	lipid binding										AGTTTGAAGGTGAAGGATGTC	0.537000														98			101		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133485235	133485235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:133485235C>T	uc003epu.2	+	16	3172	c.1444C>T	c.(1444-1446)Ccc>Tcc	p.P482S	TF_uc011blt.2_Missense_Mutation_p.P355S|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.P482S	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	482	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGGAACATCCCCATGGGCCT	0.537000														120			106		0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10007084	10007084	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:10007084C>T	uc001qwn.3	-	4	895	c.238_splice	c.e4-1	p.N80_splice		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	80	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TAAGAAAATTCTTTAGAGACA	0.368000														38			12		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695267	247695267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:247695267G>A	uc021pmb.1	-	0	547	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.P183S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182P(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATAATGAGGGGCATCTCGCAA	0.557000														33			8		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237982366	237982366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:237982366C>T	uc001hyl.1	+	100	14584	c.14464C>T	c.(14464-14466)Cgt>Tgt	p.R4822C	RYR2_uc010pyb.1_Missense_Mutation_p.R255C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4822					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTGGAGTTCGTGCTGGAGG	0.413000														58			15		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:51452217G>A	uc002pue.3	-	4	708	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	KLK5_uc002puf.3_Missense_Mutation_p.R164C|KLK5_uc002pug.3_Missense_Mutation_p.R164C	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	164	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R164C(2)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547000														53			31		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89911136	89911136	+	Missense_Mutation	SNP	G	A	A	rs150474449		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:89911136G>A	uc001pdf.4	+	15	1818	c.1709G>A	c.(1708-1710)cGa>cAa	p.R570Q	NAALAD2_uc009yvx.3_Missense_Mutation_p.R537Q|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	570	NAALADase.				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)				GCTCAATTACGAGGAGCACTG	0.348000														26			36		0	0	1	0	0
ZNF185	7739	broad.mit.edu	37	X	152100320	152100320	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:152100320G>A	uc011myg.2	+	13	1067	c.1019_splice	c.e13+1	p.R340_splice	ZNF185_uc011myi.2_Splice_Site_p.R311_splice|ZNF185_uc011myj.2_Splice_Site_p.R281_splice|ZNF185_uc011myh.2_Splice_Site_p.R311_splice|ZNF185_uc011myk.2_Splice_Site_p.R341_splice|ZNF185_uc010ntv.2_Splice_Site_p.R340_splice|ZNF185_uc004fgw.4_Splice_Site_p.R119_splice|ZNF185_uc004fgu.3_Intron|ZNF185_uc004fgv.3_Splice_Site_p.R37_splice	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	340						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCTGCAAGGTAACTCAGT	0.572000														1			9		0	0	1	0	0
HMGB4	127540	broad.mit.edu	37	1	34330038	34330038	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:34330038G>A	uc021oky.1	+	0	246	c.246G>A	c.(244-246)agG>agA	p.R82R	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Silent_p.R82R|HMGB4_uc001bxq.3_Silent_p.R8R	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	82						nucleus	DNA binding	p.K81N(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTGGCAAGAGGAAGAAACGGA	0.502000														72			52		0	0	1	0	0
C1orf198	84886	broad.mit.edu	37	1	230979413	230979413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:230979413G>A	uc001hub.3	-	2	658	c.614C>T	c.(613-615)gCc>gTc	p.A205V	C1orf198_uc009xfh.2_Missense_Mutation_p.A75V|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.A167V	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	205										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CTGGAACTCGGCCTCAGGCCC	0.637000														94			33		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152668338	152668338	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:152668338G>A	uc021zhb.1	-	70	12157	c.11934C>T	c.(11932-11934)gaC>gaT	p.D3978D	SYNE1_uc003qot.4_Silent_p.D3907D|SYNE1_uc003qou.4_Silent_p.D3978D|SYNE1_uc010kja.2_Silent_p.D683D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3978					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTTCAAACGGTCTTCAAAAC	0.378000										HNSCC(10;0.0054)				16			32		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111890219	111890219	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:111890219C>T	uc001kyu.3	+	12	1863	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	ADD3_uc001kyt.4_Silent_p.I569I|ADD3_uc001kys.4_Silent_p.I569I|ADD3_uc001kyv.3_Silent_p.I569I|ADD3_uc001kyw.3_Silent_p.I569I|ADD3_uc001kyx.3_Silent_p.I142I	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	569						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		AGAGGACAATCGAACGTAAAC	0.403000														77			27		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7727622	7727622	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7727622G>A	uc002giu.1	+	75	11676	c.11662_splice	c.e75+1	p.G3888_splice	DNAH2_uc010cnm.1_Splice_Site_p.G826_splice	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3888	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGACTCAGGGTTGGTGTCC	0.617000														20			23		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84183923	84183923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:84183923G>A	uc002fhl.4	+	2	509	c.328G>A	c.(328-330)Gat>Aat	p.D110N	DNAAF1_uc010chi.1_Non-coding_Transcript	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	110			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AGCATTGAATGATACGCTGTA	0.368000														28			18		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230950	21230950	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:21230950T>G	uc002red.3	-	25	8918	c.8790A>C	c.(8788-8790)aaA>aaC	p.K2930N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2930					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCAGGCCCATTTCCATGACC	0.473000														63			45		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3019299	3019299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:3019299C>T	uc010dth.3	-	6	798	c.535G>A	c.(535-537)Gag>Aag	p.E179K	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.E178K|TLE2_uc010xhc.2_Intron|TLE2_uc010dti.3_Missense_Mutation_p.E192K|TLE2_uc010xhd.1_Intron	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	178	Gly/Pro-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		CCCTCGGCCTCCACGCCCGCA	0.697000														8			3		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298474	107298474	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:107298474G>A	uc004bcb.1	-	0	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTTCACATGCGAAATGATTGA	0.428000														65			47		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50362591	50362591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:50362591G>A	uc021thx.1	-	8	1236	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	BRD7_uc002ege.2_Missense_Mutation_p.P359L	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	359					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCTACAATGGGATCCACAGG	0.418000														48			16		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105261734	105261734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:105261734G>A	uc003yls.3	+	25	3904	c.3663G>A	c.(3661-3663)atG>atA	p.M1221I	RIMS2_uc003ylp.3_Missense_Mutation_p.M1203I|RIMS2_uc003ylw.2_Missense_Mutation_p.M1210I|RIMS2_uc003ylq.3_Missense_Mutation_p.M1017I|RIMS2_uc003ylr.3_Missense_Mutation_p.M1042I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1265					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGTAGGAATGATGGACAAAA	0.413000										HNSCC(12;0.0054)				32			24		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35331759	35331759	+	Silent	SNP	G	A	A	rs139407093		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:35331759G>A	uc001byc.3	-	9	2865	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	955					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGTGGCGGAAGGAAGCGGCGC	0.746000														18			4		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7660446	7660446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7660446G>A	uc002giu.1	+	11	1956	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	648	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTACTGGGAGCGGCTGCT	0.542000														247			91		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58511493	58511493	+	RNA	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:58511493G>A	uc002iyr.1	-	0		c.1865C>T								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GGCCGATCTTGGGGGCCAGGG	0.572000														9			12		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32202147	32202147	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:32202147C>T	uc011alu.2	+	17	1459	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	DEPDC5_uc011als.2_Silent_p.F419F|DEPDC5_uc003als.3_Silent_p.F419F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.F419F|DEPDC5_uc003alr.2_Silent_p.F419F|DEPDC5_uc011alt.2_Silent_p.F391F	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	419					intracellular signal transduction			p.F415fs*35(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTAATAGTTTCACCCCACGAA	0.358000														25			13		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755423	141755423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:141755423C>T	uc003vwy.3	+	27	3434	c.3380C>T	c.(3379-3381)cCc>cTc	p.P1127L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1127	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)	ACCCGCCTTCCCTCCAAGTAC	0.507000														54			35		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709260	176709260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176709260C>T	uc001gkz.3	+	13	5243	c.4079C>T	c.(4078-4080)tCc>tTc	p.S1360F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1360					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTAAGGACATCCTCCCGCATT	0.517000														37			26		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582728	120582728	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:120582728C>T	uc001txo.3	-	40	5168	c.5155_splice	c.e40+1	p.G1719_splice		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1719					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)					TGGCCTTACCCTGTGCAGCGC	0.592000														40			18		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38738238	38738238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:38738238G>A	uc021yzh.1	+	11	1776	c.1667G>A	c.(1666-1668)aGg>aAg	p.R556K	DNAH8_uc003ooe.2_Missense_Mutation_p.R339K	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						CATAAAACAAGGAAACTGATT	0.323000														27			14		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:146059041A>G	uc003ika.4	-	20	2829	c.2691T>C	c.(2689-2691)caT>caC	p.H897H		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	961							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478000														160			4		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200014571	200014571	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:200014571G>A	uc001gvb.3	+	4	528	c.322_splice	c.e4-1	p.G108_splice	NR5A2_uc001gvc.3_Splice_Site_p.G62_splice|NR5A2_uc009wzh.3_Splice_Site_p.G68_splice|NR5A2_uc010pph.2_Splice_Site_p.G36_splice	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	108					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TGTCTTATAGGGATTTTTTAA	0.343000														41			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442220	179442220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179442220G>A	uc021vsy.1	-	272	61363	c.61138C>T	c.(61138-61140)Ctt>Ttt	p.L20380F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L14075F|TTN_uc021vta.1_Missense_Mutation_p.L14008F|TTN_uc021vtb.1_Missense_Mutation_p.L13883F|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21307	Fibronectin type-III 47.						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)			GTGGGATCAAGGACAATTGTT	0.333000														12			6		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159540	23159540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:23159540G>A	uc002nqz.1	-	1	433	c.407C>T	c.(406-408)tCc>tTc	p.S136F	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		ACTTTTGTAGGAATTCTCTCT	0.348000														25			7		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100465	17100465	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:17100465G>A	uc002nfb.3	-	12	1556	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	461						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCAGTGGGTGGGAGGGTGGCT	0.612000														35			27		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28544272	28544272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:28544272C>T	uc002hey.4	-	5	1293	c.749G>A	c.(748-750)gGc>gAc	p.G250D		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	250					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCAGCTGATGCCCCCCAGGTC	0.582000														71			26		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648316	11648316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:11648316G>A	uc002gne.3	+	30	6382	c.6314G>A	c.(6313-6315)cGg>cAg	p.R2105Q	DNAH9_uc010coo.3_Missense_Mutation_p.R1399Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2105					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATGTCCCCCGGAGGAGAGAC	0.537000														66			21		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599687	29599687	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:29599687G>A	uc001usl.4	+	0	940	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	284						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCCTGCTCTGAATTTGACTT	0.517000														23			9		0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25781078	25781078	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:25781078G>A	uc003cdl.3	-	4	979	c.871C>T	c.(871-873)Cga>Tga	p.R291*	NGLY1_uc010hfg.3_Nonsense_Mutation_p.R291*|NGLY1_uc003cdm.3_Nonsense_Mutation_p.R291*|NGLY1_uc011awo.2_Nonsense_Mutation_p.R249*|NGLY1_uc003cdk.3_Intron	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	291					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CTTGGGAATCGATTGCTGAAC	0.383000														118			44		0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126270845	126270845	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:126270845G>A	uc003ejb.3	-	2	539	c.210C>T	c.(208-210)gtC>gtT	p.V70V		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	70										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CTTACCCTCGGACTGGGATGG	0.612000														63			19		0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275866	17275866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:17275866C>T	uc003jfx.3	+	1	720	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	BASP1_uc021xws.1_Missense_Mutation_p.P181S	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	181					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						GGAGGCTGCCCCCTCTTCCAA	0.672000														21			14		0	0	1	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502464	16502464	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:16502464G>A	uc003sth.3	-	4	1115	c.402C>T	c.(400-402)ctC>ctT	p.L134L	SOSTDC1_uc003stg.3_Silent_p.L110L	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	Homo sapiens sclerostin domain containing 1 (SOSTDC1), mRNA.	110	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCCAGTTAGGGAGCACTGGCA	0.562000														49			22		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34180370	34180370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:34180370C>T	uc001bxm.1	-	20	3400	c.3223G>A	c.(3223-3225)Gac>Aac	p.D1075N	CSMD2_uc001bxn.1_Missense_Mutation_p.D1035N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1035	Sushi 6.					integral to membrane|plasma membrane	protein binding	p.T1074T(1)		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)				GGCTCCAAGTCGTACTCTGGA	0.592000														33			13		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522588	96522588	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:96522588C>T	uc010qnz.2	+	0	126	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	42					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGGAAATATCCTACAGATAG	0.418000														50			27		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71895931	71895931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:71895931C>T	uc004eax.4	-	5	908	c.607G>A	c.(607-609)Gga>Aga	p.G203R	PHKA1_uc004eay.4_Missense_Mutation_p.G203R|PHKA1_uc011mqi.2_Missense_Mutation_p.G203R	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	203					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTTGCCATTCCAACTGAACTG	0.418000														9			26		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2610036	2610036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:2610036G>A	uc001lwn.3	+	9	1453	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	KCNQ1_uc009ydp.1_Missense_Mutation_p.E233K|KCNQ1_uc001lwo.3_Missense_Mutation_p.E322K	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	449					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CGACCCCCCAGAAGAGCGGCG	0.562000														17			7		0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131565650	131565650	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:131565650A>G	uc010myj.3	+	7	788	c.665A>G	c.(664-666)aAc>aGc	p.N222S	TBC1D13_uc010myk.3_Intron|TBC1D13_uc010myl.3_Missense_Mutation_p.N41S	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	222	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GCCAAGCTCAACCCTGGCATC	0.542000														48			18		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59131237	59131237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:59131237G>A	uc009wab.2	-	16	2121	c.2098C>T	c.(2098-2100)Ccc>Tcc	p.P700S	MYSM1_uc001cza.3_Missense_Mutation_p.P106S|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	700					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TATGGTAAGGGATTATTTCGA	0.348000														56			20		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25262537	25262537	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:25262537G>A	uc010aaa.3	+	3	642	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ATP12A_uc001upp.3_Silent_p.E103E	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	103					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			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)	AGACGCCTGAGATCGTCAAGT	0.597000														180			223		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907493	65907493	+	Nonsense_Mutation	SNP	C	T	T	rs145463211		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:65907493C>T	uc002jgf.3	+	10	3554	c.3493C>T	c.(3493-3495)Cga>Tga	p.R1165*	BPTF_uc002jge.3_Nonsense_Mutation_p.R1291*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1291					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.R1165*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCCAAAAGATCGAGTGTTAGA	0.393000														39			11		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150814531	150814531	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150814531C>T	uc003wjg.1	+	3	555	c.552C>T	c.(550-552)ccC>ccT	p.P184P	AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.P184P|AGAP3_uc010lpy.1_Silent_p.P184P|AGAP3_uc003wjh.1_Silent_p.P364P	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	148	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AAGGAGGCCCCCCTGAGCTCC	0.612000														58			34		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873271	173873271	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:173873271C>T	uc003isv.3	+	9	1969	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	411						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGCATCTCTCCACGGGGGACA	0.557000														60			21		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13438930	13438930	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13438930G>A	uc003bxv.1	-	2	446	c.363C>T	c.(361-363)atC>atT	p.I121I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	121					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGTGGAGACGATCTGGATGT	0.612000														33			41		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27285068	27285068	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:27285068C>T	uc002hdp.2	-	10	2393	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.V733V|SEZ6_uc002hdq.1_Silent_p.V608V	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	733	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGTAAGTGACCACGGTGCCGT	0.607000														81			25		0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30530764	30530764	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:30530764G>A	uc010gdx.1	+	14	1513	c.1260G>A	c.(1258-1260)cgG>cgA	p.R420R	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.R322R|TTLL9_uc010ztp.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	420					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAACGATCGGAAGAAACAAC	0.567000														176			58		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484819	97484819	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:97484819G>A	uc001vmw.3	+	1	807	c.783G>A	c.(781-783)ggG>ggA	p.G261G		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	261						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCCAGAGAGGGGCCACTTGGA	0.498000														28			9		0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3029911	3029911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3029911G>A	uc002fvc.1	-	0	935	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CCACTAAGGGGAATGAATTTT	0.423000														36			45		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152279474	152279474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:152279474C>T	uc002txm.3	+	7	865	c.704C>T	c.(703-705)tCa>tTa	p.S235L	RIF1_uc010fnv.2_Missense_Mutation_p.S199L|RIF1_uc002txn.3_Missense_Mutation_p.S235L|RIF1_uc002txl.3_Missense_Mutation_p.S235L|RIF1_uc002txo.3_Missense_Mutation_p.S235L|RIF1_uc010zby.1_Intron	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	235					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAATTAATCTCAGAACTTCAG	0.308000														22			9		0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66333340	66333340	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66333340A>T	uc001oip.3	-	6	1016	c.926T>A	c.(925-927)tTt>tAt	p.F309Y		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	309					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTGGTTGAGAAACCACTGGCC	0.612000														29			30		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22539336	22539336	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22539336C>T	uc001wcy.3	+	1	243	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	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_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		GCTCATCAACCTGTTTTACAT	0.478000														18			14		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	870942	870942	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:870942G>A	uc002wei.3	-	1	482	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	ANGPT4_uc010zpn.2_Nonsense_Mutation_p.Q121*	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	127					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGGGCCGTCTGATTCTGGGCC	0.612000														31			36		0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22278176	22278176	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:22278176C>T	uc002dki.3	+	14	2228	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	EEF2K_uc002dkh.3_Non-coding_Transcript	NM_013302	NP_037434	O00418	EF2K_HUMAN	Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA.	581					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CTCATCACATCCTAGCCGATG	0.632000														79			38		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91747817	91747817	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:91747817G>A	uc010aty.3	-	26	4837	c.4683C>T	c.(4681-4683)ccC>ccT	p.P1561P	CCDC88C_uc001xzj.3_Silent_p.P85P|CCDC88C_uc001xzi.3_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1561					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)				GCCTGTGGTTGGGGACCTCAA	0.507000														44			20		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633614	633614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:633614C>T	uc002cho.3	+	9	2401	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Missense_Mutation_p.P325S|PIGQ_uc010uuj.2_Missense_Mutation_p.G58R	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	755					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCGGATGTTCCCTGGAGAGGT	0.647000														55			36		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466021	56466022	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:56466021_56466022GG>AA	uc002qmh.3	+	2	668_669	c.597_598GG>AA	c.(595-600)cagggt>caAAgt	p.G200S	NLRP8_uc010etg.3_Missense_Mutation_p.G200S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	200						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)		AAAGACCCCAGGGTAGACAGCC	0.515000														43			15		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87662904	87662904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:87662904C>T	uc003hpz.3	+	15	2902	c.2422C>T	c.(2422-2424)Cac>Tac	p.H808Y	PTPN13_uc003hpy.3_Missense_Mutation_p.H808Y|PTPN13_uc003hqa.3_Missense_Mutation_p.H808Y|PTPN13_uc003hqb.3_Missense_Mutation_p.H808Y	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	808	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTTTGAAGTTCACAATGGAGT	0.393000														14			8		0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58477992	58477992	+	Missense_Mutation	SNP	G	A	A	rs146255633		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:58477992G>A	uc002qqv.3	-	3	379	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	93						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		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;0.017)		GGTCTATGCCGAATTATTGCT	0.348000														32			17		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139394	142139394	+	Silent	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142139394T>C	uc003vyt.3	-	1	276	c.231A>G	c.(229-231)tcA>tcG	p.S77S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGGCAGCCCTGATTTGTCTT	0.547000														54			32		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69318037	69318037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:69318037C>T	uc002sfg.3	+	8	1045	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ANTXR1_uc002sfe.3_Missense_Mutation_p.T230I|ANTXR1_uc002sff.3_Missense_Mutation_p.T230I|ANTXR1_uc002sfd.2_Missense_Mutation_p.T230I	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	230					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GAACCATCCACCATATGTGCA	0.378000									Familial Infantile Hemangioma					39			22		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136321797	136321797	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136321797T>G	uc004cdv.4	+	26	4292	c.3848T>G	c.(3847-3849)cTg>cGg	p.L1283R	ADAMTS13_uc004cdp.4_Missense_Mutation_p.L454R|ADAMTS13_uc004cdt.1_Missense_Mutation_p.L1227R|ADAMTS13_uc004cdu.1_Missense_Mutation_p.L1196R|ADAMTS13_uc004cdw.4_Missense_Mutation_p.L1227R|ADAMTS13_uc004cdx.4_Missense_Mutation_p.L1196R|ADAMTS13_uc004cdz.4_Missense_Mutation_p.L953R|ADAMTS13_uc004cea.1_Missense_Mutation_p.L79R|ADAMTS13_uc004ceb.4_Missense_Mutation_p.L79R	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1283	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGTGGGGTGCTGCTGCGGTAT	0.617000														5			4		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569100	61569100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61569100C>T	uc010xeu.2	+	6	995	c.662C>T	c.(661-663)cCt>cTt	p.P221L	SERPINB2_uc002ljo.3_Missense_Mutation_p.P221L|SERPINB2_uc002ljp.1_Missense_Mutation_p.P26L|SERPINB2_uc002ljq.1_Missense_Mutation_p.P26L	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	221					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGGCTTTATCCTTTCCGTGTA	0.393000														65			14		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419021	55419021	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55419021C>T	uc001nhs.1	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TCTTGCTAATCTCCTACAGCA	0.488000														40			50		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472016	52472016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:52472016G>A	uc003dea.1	-	13	1709	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	570	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCACTGCAGGGCAGGGTTGCC	0.697000														28			24		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93845059	93845059	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:93845059G>A	uc001pep.2	+	19	3636	c.3479G>A	c.(3478-3480)tGa>tAa	p.*1160*	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	0					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.P1159P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GATGCTCTGTGAACCATCTGG	0.547000														132			140		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711683	140711683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140711683G>A	uc003lji.2	+	0	1432	c.1432G>A	c.(1432-1434)Gac>Aac	p.D478N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D478N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	480	Cadherin 5.				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)			GAGGGCCCACGACTTGGACAG	0.517000														92			79		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42280289	42280289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42280289C>T	uc021sjp.1	-	15	1789	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	PLA2G4E_uc010udc.2_Missense_Mutation_p.E40K|PLA2G4E_uc001zov.2_Missense_Mutation_p.E221K	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	585	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGGAAAAACTCCTCCGAGGTG	0.612000														9			5		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573631	140573631	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140573631C>T	uc003lix.3	+	0	1680	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCCTGGTCTCCA	0.677000														168			62		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375357	118375357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:118375357C>T	uc001pta.3	+	26	8764	c.8741C>T	c.(8740-8742)tCt>tTt	p.S2914F	MLL_uc001ptb.3_Missense_Mutation_p.S2917F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2914					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GTCTCTTCCTCTATCTCAGCA	0.478000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									44			115		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13635872	13635872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:13635872G>A	uc004cvj.3	+	7	1089	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	EGFL6_uc004cvi.3_Missense_Mutation_p.E268K|EGFL6_uc011mik.1_Missense_Mutation_p.E169K	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	268					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TTCTGTGAAGGAAGTCCTCAG	0.348000														19			60		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42459594	42459594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:42459594G>A	uc001zpd.3	-	13	1559	c.1408C>T	c.(1408-1410)Cat>Tat	p.H470Y	VPS39_uc001zpc.3_Missense_Mutation_p.H459Y|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	470					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	p.H459Y(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TAACTCACATGGAGATAGCAC	0.527000														35			18		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27173333	27173333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:27173333G>A	uc011lno.2	+	5	1316	c.874G>A	c.(874-876)Ggc>Agc	p.G292S	TEK_uc010mjc.1_Missense_Mutation_p.G145S|TEK_uc011lnn.1_Missense_Mutation_p.G292S|TEK_uc003zqi.4_Missense_Mutation_p.G292S|TEK_uc011lnp.2_Missense_Mutation_p.G188S|TEK_uc003zqj.1_Missense_Mutation_p.G269S	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	292	EGF-like 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CTGTGCCACAGGCTGGAAGGG	0.488000														49			23		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115966074	115966074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:115966074G>A	uc001lbg.1	+	10	1522	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	TDRD1_uc001lbf.3_Missense_Mutation_p.E448K|TDRD1_uc001lbh.1_Missense_Mutation_p.E448K|TDRD1_uc001lbi.1_Missense_Mutation_p.E448K|TDRD1_uc010qsc.2_Missense_Mutation_p.E118K|TDRD1_uc001lbj.3_Missense_Mutation_p.E166K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	457					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTCTAAGAAGGAAAATGCAGA	0.363000														21			11		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40810394	40810395	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:40810394_40810395GG>AA	uc003gvj.4	+	11	2090_2091	c.1595_1596GG>AA	c.(1594-1596)ggg>gAA	p.G532E	NSUN7_uc003gvi.4_3'UTR	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGCTGGATGGGATTGAGTTGG	0.421000														37			22		0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7028903	7028903	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:7028903C>T	uc001qru.1	+	7	1063	c.841C>T	c.(841-843)Cag>Tag	p.Q281*	ENO2_uc009zfi.1_Nonsense_Mutation_p.Q281*|ENO2_uc010sfq.1_Nonsense_Mutation_p.Q238*|ENO2_uc001qrv.1_Nonsense_Mutation_p.Q281*	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	281					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCACTCTACCAGGACTTTGT	0.557000														39			25		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173259	207173259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:207173259C>T	uc002vbp.2	+	4	4257	c.4007C>T	c.(4006-4008)cCt>cTt	p.P1336L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1336							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAAATATCCCTCTTCAGTCA	0.373000														28			11		0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87367551	87367551	+	Silent	SNP	G	A	A	rs139174683	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:87367551G>A	uc002fjw.3	-	7	1382	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	FBXO31_uc010vot.2_Silent_p.F274F|FBXO31_uc002fjv.3_Silent_p.F338F	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	446					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CGGGCAGCACGAACGGCTGCC	0.677000														26			22		0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231774973	231774973	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:231774973G>A	uc021vxz.1	-	0	705	c.705C>T	c.(703-705)ttC>ttT	p.F235F	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.F235F|GPR55_uc010fxs.1_Silent_p.F235F	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	235					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGGAGACCACGAAGACAGCCA	0.587000														40			30		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016278	106016278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:106016278C>T	uc004eml.3	+	1	870	c.620C>T	c.(619-621)tCa>tTa	p.S207L	RNF128_uc004emk.3_Missense_Mutation_p.S181L	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	207						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						AATCACTATTCAATTTTTTTC	0.388000														21			29		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113283325	113283325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:113283325G>A	uc001pnz.3	-	5	1412	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	DRD2_uc010rwv.2_Missense_Mutation_p.S363F|DRD2_uc001poa.4_Missense_Mutation_p.S364F|DRD2_uc001pob.4_Missense_Mutation_p.S335F	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	364	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.S364F(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CTTCTGCTGGGAGAGCTTCCT	0.572000														11			42		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396923	154396923	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:154396923C>T	uc010jih.1	+	0	3664	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1168	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAGCAAGATCCTGAAAGAGA	0.527000														42			48		0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13546028	13546028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13546028C>T	uc003bxy.3	+	9	1022	c.889C>T	c.(889-891)Ctt>Ttt	p.L297F	HDAC11_uc010heb.3_3'UTR|HDAC11_uc011aux.2_Missense_Mutation_p.L105F|HDAC11_uc011auy.2_Missense_Mutation_p.L246F	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	297	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GGTGCCCATCCTTATGGTGAC	0.612000														47			49		0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80584431	80584431	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:80584431C>T	uc002ffo.3	+	3	387	c.267C>T	c.(265-267)atC>atT	p.I89I	DYNLRB2_uc002ffp.3_Non-coding_Transcript|DYNLRB2_uc002ffq.3_Non-coding_Transcript	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	Homo sapiens dynein, light chain, roadblock-type 2 (DYNLRB2), mRNA.	89					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						ATCTTCTGATCGTCATTCAGA	0.353000														64			37		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136535833	136535833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136535833G>A	uc004cep.4	-	18	2502	c.2368C>T	c.(2368-2370)Ccc>Tcc	p.P790S	SARDH_uc004ceo.3_Missense_Mutation_p.P790S|SARDH_uc011mdo.2_Missense_Mutation_p.P622S|SARDH_uc011mdn.2_Missense_Mutation_p.P790S|SARDH_uc004cen.3_Missense_Mutation_p.P218S	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	790					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCCTCCAGGGGGCTGTCGTCT	0.706000														6			5		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639802	94639802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:94639802C>T	uc001dqj.4	-	22	3778	c.3409G>A	c.(3409-3411)Gag>Aag	p.E1137K	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1137					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCAGATGCCTCTCTCACTGAC	0.493000														49			61		0	0	1	0	0
SFXN5	94097	broad.mit.edu	37	2	73228693	73228693	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:73228693G>A	uc002siq.3	-	6	503	c.372C>T	c.(370-372)ctC>ctT	p.L124L	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Silent_p.L16L|SFXN5_uc010yrc.2_5'UTR|SFXN5_uc010fet.3_Silent_p.L124L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	124					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GGTTGGGCAAGAGAAGACCGA	0.478000														34			14		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32496853	32496853	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:32496853G>A	uc002yow.1	-	27	4765	c.4293C>T	c.(4291-4293)gcC>gcT	p.A1431A	TIAM1_uc011adk.1_Silent_p.A1431A|TIAM1_uc011adl.1_Silent_p.A1371A	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1431					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCCTGCTCATGGCCGGCCTGG	0.562000														65			34		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42784475	42784475	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:42784475G>A	uc003cly.4	-	7	984	c.900C>T	c.(898-900)gtC>gtT	p.V300V		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	300										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTCTGGATAGACAGACAACT	0.552000														94			116		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81199444	81199444	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:81199444C>T	uc002fgh.1	-	19	3218	c.3218_splice	c.e19+1	p.R1073_splice	PKD1L2_uc002fgg.1_Splice_Site	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1073	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTTTGTACCTGTTTGTGTA	0.582000														20			15		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228538619	228538619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:228538619G>A	uc009xez.1	+	76	18438	c.18394G>A	c.(18394-18396)Gaa>Aaa	p.E6132K	OBSCN_uc001hsn.3_Missense_Mutation_p.E6132K|OBSCN_uc001hsr.1_Missense_Mutation_p.E761K|OBSCN_uc009xfa.3_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6132	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCACCATCGAAGGCGCCCC	0.677000														28			32		0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788334	68788334	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:68788334C>T	uc021xag.1	-	4	796	c.303G>A	c.(301-303)caG>caA	p.Q101Q	FAM19A4_uc021xah.1_Silent_p.Q101Q	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	101						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		ACCACCATTTCTGAATCACAA	0.398000														108			26		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118974146	118974146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:118974146G>A	uc004bjn.3	+	3	2234	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	618					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						CCAGGGCCAGGAAATGACACC	0.532000														179			71		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579526	7579526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:7579526G>A	uc003mxp.1	+	22	3382	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	DSP_uc003mxq.1_Missense_Mutation_p.E1035K|DSP_uc021yle.1_Missense_Mutation_p.E1035K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1035	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCAAGATCGAAGTTTTGGA	0.428000														26			22		0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108303444	108303444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:108303444G>A	uc001dvk.1	-	9	1033	c.979C>T	c.(979-981)Cct>Tct	p.P327S	VAV3_uc010ouw.1_Missense_Mutation_p.P327S|VAV3_uc001dvl.1_Missense_Mutation_p.P151S|VAV3_uc010oux.1_Missense_Mutation_p.P327S	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	327	DH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGTTGCATAGGAACCACAAGC	0.323000														25			38		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740790	110740790	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:110740790C>T	uc009wfq.3	+	11	2369	c.1908C>T	c.(1906-1908)ttC>ttT	p.F636F		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	636					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGTGGTGTTCGTCCTGCGGC	0.607000														13			24		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052122	9052122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:9052122G>A	uc003jek.2	-	19	3420	c.2708C>T	c.(2707-2709)tCg>tTg	p.S903L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	903	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGACCAGTCCGACCACTCCGA	0.592000														18			16		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433383	72433383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:72433383C>T	uc004ebi.3	-	0	1328	c.946G>A	c.(946-948)Gat>Aat	p.D316N		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	316					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GGATGGGGATCATAATATGCT	0.383000														15			57		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060459	16060459	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:16060459C>T	uc010xov.2	+	0	642	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTGTTTATTCCTCATCATCC	0.488000														155			72		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:71318539C>T	uc001dfk.1	-	3	1339	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.E361K	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000														108			122		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004679	74004679	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:74004679C>T	uc010wss.1	-	21	4901	c.4673G>A	c.(4672-4674)cGg>cAg	p.R1558Q	EVPL_uc002jqi.2_Missense_Mutation_p.R1536Q|EVPL_uc010wst.1_Missense_Mutation_p.R1006Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1536	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACGCGGGCCCGCTCATCTTC	0.657000														27			27		0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75695710	75695710	+	Silent	SNP	C	T	T	rs146761624	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:75695710C>T	uc003ueo.3	+	8	1085	c.999C>T	c.(997-999)ttC>ttT	p.F333F	MDH2_uc011kgh.2_Silent_p.F291F|MDH2_uc003uep.3_Silent_p.F226F	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	333					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	GGGAAGATTTCGTGAAGACCC	0.493000														18			8		0	0	1	0	0
SSX8	280659	broad.mit.edu	37	X	52659424	52659424	+	RNA	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:52659424G>A	uc011moa.1	+	6		c.921G>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		CCCGGGAAAAGCAAATACTTC	0.493000														15			46		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8160318	8160318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:8160318G>A	uc002mjf.3	-	44	5743	c.5726C>T	c.(5725-5727)tCc>tTc	p.S1909F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1909	EGF-like 30; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGGAAGGAACCAGCTGT	0.572000														42			16		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049915	9049915	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9049915G>A	uc002mkp.3	-	4	31920	c.31716C>T	c.(31714-31716)gtC>gtT	p.V10572V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10574	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGAACGAGAGACCAGTGAGG	0.498000														34			14		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768561	39768561	+	Missense_Mutation	SNP	C	A	A	rs57424749		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:39768561C>A	uc002hxg.4	-	0	519	c.380G>T	c.(379-381)cGc>cTc	p.R127L	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.R127L	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	127	Coil 1A.|Rod.		R -> C (in FNEPPK; dbSNP:rs59856285).|R -> P (in PC1; dbSNP:rs57424749).		cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGAGGCCAGGCGGTCATTGAG	0.607000														92			26		5.34276e-22	5.39849e-22	1	1	0
NUP210	23225	broad.mit.edu	37	3	13407591	13407591	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13407591C>T	uc003bxv.1	-	14	1870	c.1787_splice	c.e14-1	p.G596_splice	NUP210_uc003bxx.3_Splice_Site_p.G268_splice	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	596					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CGGCAGCCTCCCTACAGAAAG	0.557000														15			17		0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67416106	67416106	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:67416106G>A	uc002esv.3	+	12	2020	c.2001G>A	c.(1999-2001)ctG>ctA	p.L667L	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc002esx.3_Silent_p.L546L|LRRC36_uc010vjk.2_Silent_p.L442L|LRRC36_uc010vjl.2_Silent_p.L139L	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	667										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTGCCCAGCTGAAAAAGCTGG	0.473000														24			14		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64559739	64559739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:64559739G>A	uc001obh.3	-	25	1911	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	MAP4K2_uc001obi.3_Missense_Mutation_p.P599S	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	607	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCCGTGTAGGGGTTCCGCACT	0.697000														16			15		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16531317	16531317	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:16531317A>T	uc001ayc.1	-	11	1981	c.1844T>A	c.(1843-1845)cTg>cAg	p.L615Q	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	615	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGCTGGACAGCTTCAGCTT	0.597000														4			10		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160111091	160111091	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:160111091G>A	uc001fvc.3	+	22	3174	c.3042G>A	c.(3040-3042)gtG>gtA	p.V1014V	ATP1A2_uc001fvd.3_Silent_p.V733V	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	1014					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGGCTGGGTGGAGAAGGAGA	0.527000														67			17		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143021572	143021572	+	Silent	SNP	G	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:143021572G>T	uc003wcr.1	+	6	927	c.840G>T	c.(838-840)ggG>ggT	p.G280G	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	280					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)					GTTGTTTTGGGACACCACTTG	0.527000														40			20		7.45023e-12	7.48112e-12	1	1	0
AAMP	14	broad.mit.edu	37	2	219130370	219130370	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:219130370G>A	uc002vhl.3	-	7	1002	c.918C>T	c.(916-918)tcC>tcT	p.S306S	AAMP_uc002vhk.3_Silent_p.S305S	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	305					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGCTGGGAGGCCACAG	0.577000														45			36		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878920	24878920	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:24878920C>T	uc001wpf.4	+	3	2238	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	640					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGCAGGTCCCAAAACACCCA	0.527000														8			5		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4537959	4537959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:4537959G>A	uc002mau.3	-	1	1048	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	346	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCACTGGGACTTGGCCAC	0.597000														9			10		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133218418	133218418	+	Silent	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:133218418A>T	uc001uks.1	-	38	5237	c.5193T>A	c.(5191-5193)ctT>ctA	p.L1731L	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.L535L|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1731					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCAGGTTCTGAAGGTCCAGCT	0.617000								DNA polymerases (catalytic subunits)						54			25		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823400	53823400	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:53823400C>T	uc001scx.2	+	7	1211	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A	AMHR2_uc009zmy.2_Silent_p.A377A|AMHR2_uc021qyg.1_Silent_p.A377A	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	377	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCCCAGCTGCCATCATGGAAG	0.562000														13			8		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542726	28542726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:28542726G>A	uc003nlo.3	-	2	2374	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	586					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						GCCACCTTAGGAGTGACAGAA	0.378000														27			22		0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66136998	66136998	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66136998G>A	uc001oht.3	-	2	346	c.117C>T	c.(115-117)ttC>ttT	p.F39F	SLC29A2_uc009yrf.3_5'UTR|SLC29A2_uc001ohu.3_Silent_p.F39F|SLC29A2_uc001ohv.3_Silent_p.F39F|AX747485_uc001ohw.1_Non-coding_Transcript	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	39					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GTCGCGCCTGGAAGTACTGCC	0.617000														205			75		0	0	1	0	0
ABCA11P	79963	broad.mit.edu	37	4	437846	437846	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:437846T>A	uc003gaf.4	-	2	732	c.506A>T	c.(505-507)tAc>tTc	p.Y169F	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.Y137F|ABCA11P_uc010ibe.3_Missense_Mutation_p.Y125F	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TTCACAAGTGTAGGGTTTCTC	0.388000														118			49		0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796607	11796607	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:11796607T>G	uc021upi.1	+	2	1223	c.547T>G	c.(547-549)Tct>Gct	p.S183A	ZNF833P_uc002msl.4_Non-coding_Transcript					Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CTTCAGTAGTTCTAAGTACTT	0.393000														36			31		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116756873	116756873	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:116756873C>T	uc011ebg.2	+	5	1398	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	DSE_uc003pws.3_Silent_p.F414F|DSE_uc003pwt.3_Silent_p.F414F|DSE_uc003pwu.3_Silent_p.F81F	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	414					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.S416fs*12(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATAGATCTTTCCTTTCCTTCA	0.418000														9			31		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284741	223284741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:223284741C>T	uc021pjl.1	-	0	1633	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	TLR5_uc001hnv.2_Missense_Mutation_p.D545N|TLR5_uc001hnw.2_Missense_Mutation_p.D545N	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	545			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCAGGTAAATCATTGTGAGAA	0.413000														61			52		0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46521385	46521385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:46521385C>T	uc002pdw.3	+	13	1475	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	CCDC61_uc021uwd.1_Missense_Mutation_p.S293F|MIR769_uc021uwe.1_5'Flank	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.									p.S492S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CTGGCCAACTCCGGGGGCTGG	0.607000														7			7		0	0	1	0	0
PTN	5764	broad.mit.edu	37	7	136938237	136938237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:136938237G>A	uc003vtq.2	-	2	626	c.263C>T	c.(262-264)cCc>cTc	p.P88L		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	88					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CCAGTTGCAGGGGATCTTACA	0.488000														68			29		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842093	5842093	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:5842093C>T	uc010qzp.2	+	0	528	c.528C>T	c.(526-528)atC>atT	p.I176I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAACTTCATCCCCCACACCT	0.517000														75			88		0	0	1	0	0
FAM111B	374393	broad.mit.edu	37	11	58893163	58893163	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:58893163C>T	uc001nnl.3	+	3	1836	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S	FAM111B_uc001nnm.3_Silent_p.S501S|FAM111B_uc010rko.2_Silent_p.S501S|FAM111B_uc021qjn.1_Silent_p.S501S	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	531							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATTGGTTTTCCATTGAGCCAT	0.388000														50			68		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135487867	135487867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:135487867G>A	uc004ezu.1	+	22	8962	c.8671G>A	c.(8671-8673)Gat>Aat	p.D2891N	GPR112_uc010nsb.1_Missense_Mutation_p.D2686N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2891					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)					GATTAAAGATGATTCTATCTT	0.343000														5			13		0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58009767	58009767	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:58009767C>T	uc001spb.3	+	12	1847	c.1387C>T	c.(1387-1389)Cag>Tag	p.Q463*	ARHGEF25_uc009zpy.3_Nonsense_Mutation_p.Q502*|ARHGEF25_uc001spa.3_Nonsense_Mutation_p.Q357*|BC073932_uc001spc.3_Intron	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	463	PH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCATGTGGCTCAGATCTTGGA	0.572000														92			52		0	0	1	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185366	32185366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:32185366G>A	uc002you.3	-	0	205	c.173C>T	c.(172-174)tCg>tTg	p.S58L		NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN	Homo sapiens keratin associated protein 8-1 (KRTAP8-1), mRNA.	58						intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						AGCAAATGGCGAGTATCTCCT	0.557000														82			30		0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062051	66062051	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:66062051C>T	uc001ohl.3	+	1	446	c.334C>T	c.(334-336)Ctc>Ttc	p.L112F		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	112						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCTCTACCTCCTCTACCTGGC	0.721000														24			21		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477162	63477162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:63477162G>A	uc002lkb.3	+	2	859	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CDH7_uc002ljz.3_Missense_Mutation_p.D145N|CDH7_uc002lka.3_Missense_Mutation_p.D145N	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	145	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAAAATTCAGGATATCAACGA	0.507000														176			40		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3150291	3150291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:3150291G>A	uc001lxk.2	-	1	246	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	OSBPL5_uc010qxq.1_5'Flank|OSBPL5_uc009ydw.2_Missense_Mutation_p.R30W|OSBPL5_uc001lxl.2_Missense_Mutation_p.R30W|OSBPL5_uc009ydx.3_Missense_Mutation_p.R54W|OSBPL5_uc001lxm.1_Non-coding_Transcript	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	30					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding	p.R30R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGCAAGTTCCGGGTGAGCTTC	0.662000														9			3		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008216	32008216	+	Missense_Mutation	SNP	G	A	A	rs150804717		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:32008216G>A	uc003nze.2	+	7	1080	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	CYP21A2_uc003nzf.2_Missense_Mutation_p.E295K	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	324					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCTAGACCACGAACTGGGCCC	0.682000														51			22		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674812	71674812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:71674812G>A	uc002fau.3	+	2	1178	c.1115G>A	c.(1114-1116)gGc>gAc	p.G372D	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	375	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCATGTACGGCGCCAGCGTG	0.597000														26			9		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:109031524C>T	uc003dxo.3	-	2	296	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	17						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						TCATCTACTTCCCCCTCCAAG	0.398000														102			37		0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15604484	15604484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:15604484C>T	uc010cot.3	+	2	452	c.56C>T	c.(55-57)tCt>tTt	p.S19F	ZNF286A_uc002goz.4_5'UTR|ZNF286A_uc010vwa.2_Missense_Mutation_p.S19F|ZNF286A_uc002gpa.3_Missense_Mutation_p.S19F	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S19S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCCCAGGATTCTCCCCATTTC	0.473000														368			73		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121650527	121650527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121650527C>T	uc003eep.2	+	18	1859	c.1706C>T	c.(1705-1707)tCt>tTt	p.S569F	SLC15A2_uc011bjn.1_Missense_Mutation_p.S538F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	569					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.S569Y(2)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAGAACTTTTCTCTGAATTTG	0.388000														19			14		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129383	152129383	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152129383G>A	uc001ezs.1	-	2	257	c.192C>T	c.(190-192)gaC>gaT	p.D64D		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	64	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTCCATCTCGGTCTTGATCTA	0.428000														58			65		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30819689	30819689	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:30819689G>A	uc003cep.2	-	13	1421	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	458					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTTTTGCCCAGAACTCGGGTC	0.343000														38			39		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89906553	89906553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:89906553G>A	uc010lep.3	+	10	1311	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Missense_Mutation_p.G29R|C7orf63_uc011khj.2_Missense_Mutation_p.G336R|C7orf63_uc011khk.2_5'Flank	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	354							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTGGTAAAAGGACTTAAGCT	0.269000														14			3		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95518946	95518946	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:95518946C>T	uc010fhp.3	-	3		c.398_splice	c.e3+1					Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTGATCTATACCTTGTCCAGT	0.403000														87			35		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2152832	2152832	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:2152832G>A	uc002cos.1	-	23	9140	c.8931C>T	c.(8929-8931)acC>acT	p.T2977T	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.T2977T|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2977			T -> N.		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						AAATGAAGAAGGTGTAGGGCC	0.652000														35			22		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207572058	207572058	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:207572058G>A	uc002vbr.1	-	2	381	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	88						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGCTCAGAGTGAGTTCCGGAG	0.512000														10			5		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114186546	114186546	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:114186546G>A	uc001kzu.3	+	20	2120	c.2008_splice	c.e20-1	p.V670_splice	ACSL5_uc001kzs.3_Splice_Site_p.V614_splice|ACSL5_uc001kzt.3_Splice_Site_p.V614_splice|ACSL5_uc009xxz.3_Intron|ACSL5_uc010qrj.2_Splice_Site_p.V396_splice	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	614					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GTATTCTTAGGTTGTAAGGGA	0.408000														37			12		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128193	152128193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152128193G>A	uc001ezs.1	-	2	1447	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	461	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.S461S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTCTGGCC	0.517000														398			448		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31887706	31887706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:31887706C>T	uc003tcm.2	-	8	1317	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PDE1C_uc003tcn.1_Missense_Mutation_p.D286N|PDE1C_uc003tco.2_Missense_Mutation_p.D346N|PDE1C_uc003tcr.3_Missense_Mutation_p.D286N|PDE1C_uc003tcs.3_Missense_Mutation_p.D286N	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	286	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATAGCTGGATCAGACCTGAAC	0.388000														42			27		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903317	5903317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:5903317G>A	uc002wmg.3	+	3	833	c.527G>A	c.(526-528)gGg>gAg	p.G176E	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	176						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TATCAAAAAGGGGAGCGAGGG	0.488000														33			31		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132939105	132939105	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:132939105G>A	uc003qdl.1	-	1	240	c.240C>T	c.(238-240)ttC>ttT	p.F80F	TAAR2_uc010kfr.1_Silent_p.F35F	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	80						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGAGGATGAGGAAGTTGGTTG	0.423000														31			69		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778089	159778089	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:159778089C>T	uc001fud.4	+	2	216	c.174C>T	c.(172-174)ttC>ttT	p.F58F	FCRL6_uc010pix.1_Silent_p.F53F|FCRL6_uc001fuc.2_Silent_p.F65F|FCRL6_uc009wsz.1_Silent_p.F58F|FCRL6_uc009wta.3_Silent_p.F58F	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	58	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					ATGGAAAATTCCTTCATTTCT	0.502000														13			29		0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155239621	155239621	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:155239621C>T	uc004fnv.1	+	8	1292	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	371					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATCTGTGGCCCTGGAGGAGG	0.657000														54			19		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863032	52863032	+	Silent	SNP	G	A	A	rs139360268	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:52863032G>A	uc001sal.4	-	8	1557	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	503	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGCCACTGCCGACACCGCTGG	0.602000														22			12		0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38082197	38082197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:38082197C>T	uc001cbl.2	-	4	1137	c.245G>A	c.(244-246)gGa>gAa	p.G82E	RSPO1_uc009vvf.2_Missense_Mutation_p.G55E|RSPO1_uc001cbm.2_Missense_Mutation_p.G82E|RSPO1_uc009vvg.2_Missense_Mutation_p.G82E	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	82					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCGAAGTATCCAGGTGGGCA	0.617000														60			38		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78516398	78516398	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:78516398G>A	uc001ozl.4	-	14	2581	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	706	EGF-like 5.				signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTCCGGGAGGAAGGTTCCGT	0.607000														13			22		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9438100	9438100	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:9438100C>T	uc021wam.1	+	29	3015	c.3000C>T	c.(2998-3000)atC>atT	p.I1000I	PLCB4_uc010gbw.1_Silent_p.I1000I|PLCB4_uc010gbx.3_Silent_p.I1012I|PLCB4_uc021wal.1_Silent_p.I1000I|PLCB4_uc002wnh.3_Silent_p.I847I	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1000					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			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						AAACAGAAATCAAAATTCAGA	0.358000														23			46		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024152	55024152	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:55024152T>G	uc002lgn.3	+	2	668	c.311T>G	c.(310-312)aTt>aGt	p.I104S		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	104					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.E103K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AGGCAAGAAATTCTTCAGCAT	0.318000														34			14		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55639005	55639005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55639005C>T	uc003pcq.3	-	3	1581	c.869G>A	c.(868-870)gGa>gAa	p.G290E	BMP5_uc011dxf.2_Missense_Mutation_p.G290E	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	290					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCTGTCTTCCCACAAGACC	0.423000														46			33		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588661	140588661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140588661C>T	uc003liz.3	+	0	371	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S61S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCTGTCTTCGCGGGGGGCT	0.507000														103			26		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142680139	142680139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:142680139G>A	uc003lnd.3	-	4	2652	c.1658C>T	c.(1657-1659)cCa>cTa	p.P553L	NR3C1_uc003lmy.3_Missense_Mutation_p.P554L|NR3C1_uc003lmz.3_Missense_Mutation_p.P218L|NR3C1_uc003lna.3_Missense_Mutation_p.P553L|NR3C1_uc003lnb.3_Missense_Mutation_p.P553L|NR3C1_uc011dbk.2_Missense_Mutation_p.P156L|NR3C1_uc003lnf.3_Missense_Mutation_p.P554L|NR3C1_uc003lne.3_Missense_Mutation_p.P553L|NR3C1_uc003lnc.3_Missense_Mutation_p.P553L|NR3C1_uc021yfa.1_Missense_Mutation_p.P553L|NR3C1_uc021yfb.1_Missense_Mutation_p.P553L	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	553	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGTTGAGTCTGGAACAGAGCT	0.468000														237			78		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78078436	78078437	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:78078436_78078437CC>TA	uc002jxp.3	+	1	418_419	c.51_52CC>TA	c.(49-54)gccctc>gcTAtc	p.L18I	GAA_uc002jxo.3_Missense_Mutation_p.L18I|GAA_uc002jxq.3_Missense_Mutation_p.L18I	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	18					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCGTCTGCGCCCTCGTGTCCTT	0.649000														40			15		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362198	49362198	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:49362198G>A	uc002pkx.3	-	7	1442	c.891C>T	c.(889-891)ccC>ccT	p.P297P	PLEKHA4_uc010eml.3_Silent_p.P297P	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	297	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTCCTCGGCGGGGAGTAGGGG	0.662000														50			22		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534016	55534016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:55534016C>T	uc003xsd.1	+	1	638	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S	RP1_uc011ldy.1_Missense_Mutation_p.P164S	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	164	Doublecortin 2.				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)			GAATGGCGACCCGAAGACGAG	0.657000														75			66		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968179	35968179	+	Missense_Mutation	SNP	G	A	A	rs142049781	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35968179G>A	uc003jjv.2	-	2	446	c.253C>T	c.(253-255)Cat>Tat	p.H85Y	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.H85Y|UGT3A1_uc011cor.2_Missense_Mutation_p.H51Y|UGT3A1_uc003jjy.2_Missense_Mutation_p.H31Y	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	85						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTTTTTGATGATCTTCAGGT	0.308000														44			11		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162849873	162849873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:162849873C>T	uc002ubz.3	-	25	2782	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R	DPP4_uc010fpb.3_Missense_Mutation_p.G417R	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	741					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.G741E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CTAGCTATTCCATGGTCTTCA	0.353000														65			45		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35800200	35800200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35800200G>A	uc003jjo.3	+	33	5072	c.4961G>A	c.(4960-4962)gGa>gAa	p.G1654E	SPEF2_uc003jjp.1_Missense_Mutation_p.G1140E|SPEF2_uc003jjr.3_Missense_Mutation_p.G709E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1654					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)			GTGGCTGTTGGAACTCATGTC	0.483000														143			33		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866489	26866489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:26866489G>A	uc001zbb.3	-	4	704	c.601C>T	c.(601-603)Cct>Tct	p.P201S	GABRB3_uc021sgg.1_Missense_Mutation_p.P74S|GABRB3_uc021sgh.1_Missense_Mutation_p.P60S|GABRB3_uc001zaz.3_Missense_Mutation_p.P145S|GABRB3_uc001zba.3_Missense_Mutation_p.P145S|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	145					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTCCCATCAGGGTGAAGACGG	0.473000														87			41		0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10802154	10802154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:10802154C>T	uc021ylk.1	-	7	1084	c.802G>A	c.(802-804)Gat>Aat	p.D268N	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.D268N|MAK_uc021yll.1_Missense_Mutation_p.D268N|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	268	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTCTTTGGATCCCAATTCAAC	0.388000											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			53		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13770902	13770902	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13770902G>A	uc003jfd.2	-	55	9603	c.9561C>T	c.(9559-9561)ttC>ttT	p.F3187F	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3187	Stalk (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)					CTCCATATATGAACTTATAGC	0.458000									Kartagener syndrome					29			16		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595369	55595369	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55595369C>T	uc001nhy.1	+	0	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCACCACTATCCTGAAGATAC	0.483000										HNSCC(27;0.073)				94			23		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799634	31799634	+	Silent	SNP	C	T	T	rs146790239		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:31799634C>T	uc003jhl.3	+	1	667	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PDZD2_uc003jhm.3_Silent_p.F93F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	93	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCCTGTTTTCGGGGACTATG	0.567000														257			40		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158653172	158653172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158653172C>T	uc001fst.1	-	2	578	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	127				Missing (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCGTTTCTTCGTGGGCAGAA	0.388000														47			44		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174922	63174922	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:63174922C>T	uc001xfx.3	-	10	2322	c.2271G>A	c.(2269-2271)caG>caA	p.Q757Q	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	757					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGGAGTAATCTGTGACACAG	0.542000														23			11		0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759477	94759477	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:94759477G>A	uc010ruf.1	+	0	1056	c.756G>A	c.(754-756)aaG>aaA	p.K252K		NM_001161630	NP_001155102	B2RXH2	KD4DL_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D-like (KDM4DL), mRNA.	252	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CAGTTCTCAAGGAAAATGGGA	0.552000														27			8		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39495113	39495113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:39495113G>A	uc003xni.3	+	8	773	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E216K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	240	Peptidase M12B.				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)			GTGGTCAAATGAAAACCAGAT	0.358000														24			9		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72397146	72397146	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72397146G>A	uc001osu.3	-	33	4465	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ARAP1_uc001osv.3_Nonsense_Mutation_p.R1415*|ARAP1_uc001osr.3_Nonsense_Mutation_p.R1186*|ARAP1_uc001oss.3_Nonsense_Mutation_p.R1181*|ARAP1_uc009yth.3_Nonsense_Mutation_p.R1109*|ARAP1_uc010rre.2_Nonsense_Mutation_p.R1170*	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1426					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCACTACCTCGAAGGGGGATC	0.652000														35			42		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28030318	28030318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:28030318C>T	uc001ity.4	-	2	529	c.304G>A	c.(304-306)Gag>Aag	p.E102K	MKX_uc001itx.4_Missense_Mutation_p.E102K	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	102					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E102K(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						AGTATCTTCTCGGTCTTGGTG	0.602000														73			38		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100173997	100173997	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:100173997C>T	uc001ygo.3	+	6	675	c.675C>T	c.(673-675)tcC>tcT	p.S225S	CYP46A1_uc001ygn.1_Silent_p.S187S|CYP46A1_uc001ygp.3_Silent_p.S72S	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	225					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCACTGCGTCCCGCAACACTC	0.547000														44			26		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88376927	88376927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:88376927C>T	uc001tam.1	-	11	1340	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	391								p.R391Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAAAGGAATTCGTTTTCGCCA	0.264000														43			23		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480926	20480926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20480926G>A	uc010bwe.3	+	4	720	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.D82N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D161N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D161N|ACSM2A_uc010vay.2_Missense_Mutation_p.D82N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	161					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGTTGCTGGGGATGAAGTCAT	0.448000														61			51		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661506	4661506	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:4661506G>A	uc010qyk.2	+	0	562	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATCTGCCCTGACCAGGGGGT	0.527000														102			118		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138676636	138676636	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:138676636C>T	uc011mdq.2	+	26	3131	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I	KCNT1_uc011mdr.2_Silent_p.I846I|KCNT1_uc010nbf.3_Silent_p.I974I|KCNT1_uc004cgo.1_Silent_p.I768I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1019						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTGTGGATCCGCACGTACG	0.632000														36			25		0	0	1	0	0
FGF2	2247	broad.mit.edu	37	4	123813469	123813469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:123813469G>A	uc003iev.1	+	2	853	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_002006	NP_001997	P09038	FGF2_HUMAN	Homo sapiens fibroblast growth factor 2 (basic) (FGF2), mRNA.	262	Heparin-binding (By similarity).				Ras protein signal transduction|activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	GCACTGAAACGAACTGGGCAG	0.398000														91			96		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327317	152327317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:152327317C>T	uc001ezw.4	-	2	3018	c.2945G>A	c.(2944-2946)gGa>gAa	p.G982E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	982	Ser-rich.						calcium ion binding|structural molecule activity	p.S981*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATTTTCCTGAGCCTGA	0.498000														211			227		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58145077	58145077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:58145077G>A	uc002iyk.1	-	7	973	c.956C>T	c.(955-957)tCc>tTc	p.S319F	HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.S151F	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	319	Poly-Lys.						binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTTTACTTTGGATTTTTTCTT	0.388000														32			35		0	0	1	0	0
S100A6	6277	broad.mit.edu	37	1	153507178	153507178	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153507178C>T	uc001fbw.1	-	2	581	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_014624	NP_055439	P06703	S10A6_HUMAN	Homo sapiens S100 calcium binding protein A6 (S100A6), mRNA.	89					axonogenesis|positive regulation of fibroblast proliferation|signal transduction	cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle	S100 beta binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|tropomyosin binding			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTTTCAGCCCTTGAGGGCTT	0.468000														35			44		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43662605	43662605	+	Missense_Mutation	SNP	G	A	A	rs149395667	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:43662605G>A	uc004dfz.4	-	3	502	c.326C>T	c.(325-327)cCa>cTa	p.P109L	MAOB_uc011mkx.2_Missense_Mutation_p.P93L|MAOB_uc011mky.2_Missense_Mutation_p.P93L	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	109					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GTAGGTAATTGGATTCCATAC	0.358000														9			19		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36330225	36330225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:36330225C>T	uc002oby.3	-	21	3179	c.3023G>A	c.(3022-3024)aGa>aAa	p.R1008K	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	1008	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACCCTGTATCTTGTAGAAGG	0.597000														49			34		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46497358	46497358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:46497358C>T	uc003cpq.3	-	3	668	c.427G>A	c.(427-429)Gga>Aga	p.G143R	LTF_uc003fzr.3_Missense_Mutation_p.G99R|LTF_uc010hjh.3_Missense_Mutation_p.G143R|LTF_uc003cpr.3_Missense_Mutation_p.G130R	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	143	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACATTCCATCCAGCGGTCCTG	0.557000														30			28		0	0	1	0	0
SLC38A5	92745	broad.mit.edu	37	X	48325351	48325351	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:48325351G>A	uc010nid.3	-	4	421	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SLC38A5_uc004djk.4_Silent_p.F30F	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	81					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GGACTCACAGGAAGAAGATGA	0.647000											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			15		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30953327	30953327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:30953327C>T	uc009yjk.1	-	9	1301	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	DCDC5_uc021qfk.1_Missense_Mutation_p.R70Q|DCDC5_uc009yjl.1_3'UTR	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	42					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CTGCGTTTTCCGTCCAGGTGA	0.383000														13			7		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166909378	166909378	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166909378C>T	uc002udo.4	-	6	905	c.678G>A	c.(676-678)acG>acA	p.T226T	SCN1A_uc010fpk.3_Silent_p.T226T|SCN1A_uc021vsb.1_Silent_p.T226T	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	226			T -> M (in SMEI; borderline phenotype; also found in a patient with cryptogenic generalized epilepsy; dbSNP:rs121917984).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACTGAAATCGTCTTCAATG	0.443000														4			4		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403691	54403691	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54403691C>T	uc002qcq.1	+	12	1674	c.1392C>T	c.(1390-1392)atC>atT	p.I464I	PRKCG_uc010yeg.1_Silent_p.I464I|PRKCG_uc010yeh.1_Silent_p.I351I	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	464	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CGGCAGAAATCGCTATCGGCC	0.587000														24			10		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41131632	41131632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:41131632C>T	uc010whg.2	-	1	532	c.186G>A	c.(184-186)atG>atA	p.M62I	AARSD1_uc002icd.3_Missense_Mutation_p.M1I|AARSD1_uc002ich.3_Intron|AARSD1_uc010whh.2_Missense_Mutation_p.M62I|RUNDC1_uc021txw.1_5'Flank|RUNDC1_uc002ici.1_5'Flank	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	0					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CACAAAACTCCATGAACACAT	0.572000														21			27		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627571	21627571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:21627571G>A	uc004czx.2	+	19	3008	c.2528G>A	c.(2527-2529)cGa>cAa	p.R843Q	CNKSR2_uc004czw.3_Missense_Mutation_p.R843Q|CNKSR2_uc011mjn.2_Missense_Mutation_p.R794Q|CNKSR2_uc011mjo.2_Missense_Mutation_p.R813Q|CNKSR2_uc004czy.3_Missense_Mutation_p.R435Q	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	843					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGCAAGCCTCGAAGTTTTACT	0.532000														17			36		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087757	175087757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:175087757C>T	uc001gkl.1	+	10	2560	c.2447C>T	c.(2446-2448)tCc>tTc	p.S816F		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	816	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCACTGTCTCCTGGGACCCG	0.537000														65			67		0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344866	50344866	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:50344866C>T	uc001rvn.3	+	0	343	c.253C>T	c.(253-255)Cga>Tga	p.R85*		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	85					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CTCCGTTCTCCGAGCCGCCTT	0.667000														14			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577951	179577951	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179577951C>T	uc021vsy.1	-	89	23403	c.23178G>A	c.(23176-23178)agG>agA	p.R7726R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.R4387R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8653	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGTATTTCCTTCCACTAC	0.438000														9			6		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9864158	9864158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:9864158C>T	uc004csu.1	+	3	2300	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	737	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CAGCCACCCTCATCTACAAGT	0.622000														3			9		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702223	179702223	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:179702223G>A	uc002une.2	-	22	3841	c.3723C>T	c.(3721-3723)tcC>tcT	p.S1241S	CCDC141_uc002unf.1_Silent_p.S720S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	666							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)			GAAGGCTGAGGGAGGAGCTGA	0.587000														30			10		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051662	75051662	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:75051662G>A	uc009xrc.3	-	17	2212	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	TTC18_uc001jty.3_Silent_p.S697S|TTC18_uc001jtv.4_5'Flank|TTC18_uc001jtw.4_5'Flank|TTC18_uc001jtx.3_Silent_p.S78S	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	697							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCTGGTTGAGGGAAAGGGCTT	0.458000														90			45		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189203	124189203	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:124189203C>T	uc010sah.2	-	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GTGCATTTTTCACATCCTTGT	0.403000														18			44		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20799495	20799495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:20799495C>T	uc001reh.2	+	10	2363	c.2323C>T	c.(2323-2325)Ctc>Ttc	p.L775F	PDE3A_uc021qwa.1_Missense_Mutation_p.L453F	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	775	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATTCCAGGCCTCTCAACTGT	0.413000														56			25		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670581	670581	+	Silent	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:670581A>C	uc001qii.1	+	19	2961	c.2961A>C	c.(2959-2961)cgA>cgC	p.R987R	B4GALNT3_uc001qik.1_Silent_p.R536R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	987						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATTCCAAGCGAGGCATGTGGA	0.617000														17			13		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181591	3181591	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3181591G>A	uc002fvg.3	-	0	678	c.639C>T	c.(637-639)ttC>ttT	p.F213F		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	213					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTGCCATGATGAAACCCACAG	0.542000														41			38		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003308	166003308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166003308G>A	uc002ucx.3	-	11	2104	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	SCN3A_uc002ucy.3_Missense_Mutation_p.L538F|SCN3A_uc002ucz.3_Missense_Mutation_p.L538F|SCN3A_uc002uda.1_Missense_Mutation_p.L407F|SCN3A_uc002udb.1_Missense_Mutation_p.L407F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	538						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)	ATGGAGAAAAGGAAGCTGCTT	0.433000														49			27		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969110	106969110	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:106969110C>T	uc003prh.3	+	1	3715	c.2803C>T	c.(2803-2805)Ctg>Ttg	p.L935L		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	935							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CAAAGAAGATCTGGATTCACG	0.363000														10			38		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306727	5306727	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:5306727G>A	uc003jdl.3	+	20	3435	c.3297G>A	c.(3295-3297)ccG>ccA	p.P1099P		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	1099	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACATTTGCCGAAGCCCAGCC	0.547000														10			44		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45353240	45353240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:45353240C>T	uc003jok.3	-	4	1364	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	447						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGAATATTTTCCTCATCAAAG	0.343000														46			22		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872820	189872820	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:189872820C>T	uc002uqj.1	+	46	3594	c.3477C>T	c.(3475-3477)ccC>ccT	p.P1159P		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1159	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATCCAGGTCCCATTGGACCAC	0.453000														14			5		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38854597	38854597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:38854597G>A	uc021yzh.1	+	56	8399	c.8290G>A	c.(8290-8292)Gaa>Aaa	p.E2764K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2547K	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						ACAGATGATGGAAATGGAAGG	0.388000														103			58		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136294	55136294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55136294C>T	uc010rif.2	+	0	935	c.935C>T	c.(934-936)cCa>cTa	p.P312L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGAACCCACTAATCTAT	0.388000														67			73		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849848	156849848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:156849848C>T	uc001fqh.1	+	15	2160	c.2104C>T	c.(2104-2106)Cgt>Tgt	p.R702C	NTRK1_uc001fqf.1_Missense_Mutation_p.R666C|NTRK1_uc009wsi.1_Missense_Mutation_p.R401C|NTRK1_uc001fqi.1_Missense_Mutation_p.R696C|NTRK1_uc009wsk.1_Missense_Mutation_p.R699C	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	702	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CATCCTGTACCGTAAGTTCAC	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				94			31		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132407935	132407935	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:132407935G>A	uc003epe.2	-	19	2970	c.2866C>T	c.(2866-2868)Cta>Tta	p.L956L	NPHP3_uc003epd.2_Silent_p.L198L	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	956					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGGCCTAGATCCTTGAGA	0.443000														96			29		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376049	43376049	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43376049C>T	uc002ovd.1	-	2	717	c.579G>A	c.(577-579)ttG>ttA	p.L193L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L193L|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Silent_p.L193L|PSG3_uc002ovb.3_Silent_p.L193L	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	193	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CGGACAGCTTCAAGCTGTGAG	0.517000														212			111		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246619	65246619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:65246619C>T	uc001xht.3	-	19	4348	c.4297G>A	c.(4297-4299)Gag>Aag	p.E1433K	SPTB_uc001xhr.3_Missense_Mutation_p.E1433K|SPTB_uc001xhs.3_Missense_Mutation_p.E1433K|SPTB_uc001xhu.3_Missense_Mutation_p.E1433K|SPTB_uc010aqi.3_Missense_Mutation_p.E94K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1433					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.E1433E(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCAGCTCCTCTTTTCGCACA	0.577000														108			38		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37425564	37425564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:37425564G>A	uc021ppc.1	+	5	716	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	ANKRD30A_uc001iza.1_Missense_Mutation_p.R206Q	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATATATACGAAAATTATCT	0.269000														12			5		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	31973470	31973470	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:31973470C>T	uc002ect.3	+	0		c.62C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		CTGAGACTCTCCTGTGCAGCC	0.572000														86			40		0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399547	13399547	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:13399547C>T	uc002gob.1	-	1	1986	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	396						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCCGGTCATCTGGTAGAACT	0.463000														68			29		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512535	123512535	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:123512535A>T	uc003ego.3	-	3	436	c.154T>A	c.(154-156)Ttc>Atc	p.F52I	MYLK_uc011bjw.2_Missense_Mutation_p.F52I|MYLK_uc003egp.3_Missense_Mutation_p.F52I|MYLK_uc003egq.3_Missense_Mutation_p.F52I|MYLK_uc003egr.3_Missense_Mutation_p.F52I|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Missense_Mutation_p.F52I|MYLK_uc003egu.1_Missense_Mutation_p.F62I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGCCCTTCGAACTTGGCGGTG	0.602000														38			9		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427724	119427724	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:119427724G>A	uc001ehl.1	-	7	1437	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V	TBX15_uc009whj.1_Silent_p.V198V	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCATGACATACTGAA	0.567000														20			24		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108034182	108034182	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:108034182C>T	uc001tmk.1	+	12	3353	c.2832C>T	c.(2830-2832)gcC>gcT	p.A944A	BTBD11_uc001tmj.3_Silent_p.A944A|BTBD11_uc001tml.1_Silent_p.A481A|BTBD11_uc001tmm.1_Silent_p.A23A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	944	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TATTTACAGCCTCTCCAAGGT	0.373000														36			20		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553578	140553578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140553578G>A	uc003lit.3	+	0	1336	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D388Y(2)|p.D387D(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGACGATGTCCCCTT	0.468000														44			10		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160742969	160742969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:160742969G>A	uc002ubb.4	-	4	949	c.875C>T	c.(874-876)tCa>tTa	p.S292L	LY75-CD302_uc010fos.3_Missense_Mutation_p.S292L|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S292L|LY75-CD302_uc010fot.2_Missense_Mutation_p.S292L	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	292	C-type lectin 1.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TTTGTGGTCTGACCATTCCCA	0.378000														25			15		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263584	34263584	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:34263584G>A	uc002nus.4	+	4	1396	c.891G>A	c.(889-891)cgG>cgA	p.R297R	CHST8_uc002nut.4_Silent_p.R297R|CHST8_uc002nuu.3_Silent_p.R297R	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	297					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ATGCCTCTCGGGAGGCCCTGC	0.647000														27			15		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344045	248344045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248344045G>A	uc010pzf.2	+	0	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G253L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGTACTATGGAGCAGCTTTG	0.498000														144			52		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121388158	121388158	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121388158G>A	uc010hrc.3	-	17	9348	c.9222C>T	c.(9220-9222)ctC>ctT	p.L3074L	GOLGB1_uc003eei.4_Silent_p.L3069L|GOLGB1_uc003eej.4_Silent_p.L3035L|GOLGB1_uc021xcy.1_Silent_p.L2994L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	3069					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGGTATCGCAGAGCTGAATGG	0.493000														100			27		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936543	105936543	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:105936543C>T	uc001yqx.3	+	20	2326	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Silent_p.I701I|MTA1_uc001yrb.3_Silent_p.I478I|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	713					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCATCGTCATCGAGGACTAGG	0.776000														4			3		0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60563057	60563058	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:60563057_60563058CC>TT	uc021ule.1	+	5	2502_2503	c.2257_2258CC>TT	c.(2257-2259)cct>TTt	p.P753F		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	753					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCAATCCCTTCCTGCTGAGTTG	0.342000														153			37		0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433644	69433644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:69433644C>T	uc021xov.1	-	0	602	c.559G>A	c.(559-561)Gga>Aga	p.G187R		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	187					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AACAGAAATCCTCCACCATTC	0.403000														13			56		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266155	48266155	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:48266155C>T	uc002iqm.3	-	42	3172	c.3046_splice	c.e42-1	p.G1016_splice		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1016	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGAGCCCCCTGCAGAGA	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							64			25		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315112	124315112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:124315112G>A	uc001uft.4	+	24	4082	c.4057G>A	c.(4057-4059)Gaa>Aaa	p.E1353K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1353	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAACTTATGGAAAAAACGTC	0.363000														26			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221050	140221050	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140221050C>T	uc003lhs.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.I48I	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGGATCGCGCAGGACC	0.657000														84			27		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23177452	23177452	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:23177452C>T	uc003xdh.1	-	7	1755	c.1416G>A	c.(1414-1416)gaG>gaA	p.E472E	LOXL2_uc010lty.1_Silent_p.E11E	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	472	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCACCATGGCCTCCACGATGC	0.662000														61			29		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616161	1616161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:1616161G>A	uc002wfm.1	-	3	898	c.833C>T	c.(832-834)cCc>cTc	p.P278L	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	278	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TAGGCTCTGGGGGTAGAACTT	0.547000														50			92		0	0	1	0	0
KRT18P55	284085	broad.mit.edu	37	17	26603815	26603815	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:26603815G>A	uc002has.3	-	2	1147	c.660C>T	c.(658-660)ctC>ctT	p.L220L						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		TGACCTTGTGGAGCCCATGGA	0.502000														14			25		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75816559	75816559	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75816559G>A	uc002bal.3	-	2	796	c.288C>T	c.(286-288)ttC>ttT	p.F96F		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	96	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTAAGATGGTGAATTTTCCAC	0.383000														36			21		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183370	13183370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:13183370C>T	uc010obg.2	-	1	746	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	168						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTTGGAAGATCCCCGCTTTCC	0.493000														310			62		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36768464	36768464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:36768464C>T	uc010lvw.3	+	21	2435	c.2348C>T	c.(2347-2349)tCt>tTt	p.S783F	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	783						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCACTTTATTCTGGAGACCTC	0.517000														86			30		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105876	72105876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:72105876G>A	uc002ati.3	+	5	1085	c.895G>A	c.(895-897)Gag>Aag	p.E299K	NR2E3_uc002ath.1_Missense_Mutation_p.E299K	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	299					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGCCAGCATGGAGACGCGTGT	0.652000														14			6		0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53373571	53373571	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:53373571G>A	uc001cup.4	-	3	579	c.333C>T	c.(331-333)gtC>gtT	p.V111V	ECHDC2_uc001cun.3_Silent_p.V65V|ECHDC2_uc001cuo.4_Silent_p.V111V|ECHDC2_uc021onl.1_Silent_p.V111V|ECHDC2_uc010onk.2_Silent_p.V65V|ECHDC2_uc010onl.1_Silent_p.V65V|ECHDC2_uc010onm.1_Silent_p.V65V|ECHDC2_uc010onn.1_Silent_p.V65V	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	111					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						GGAGTCGCTGGACAAACACCC	0.612000														78			16		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551510	165551510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:165551510G>A	uc002ucp.3	-	11	2728	c.2506C>T	c.(2506-2508)Ccg>Tcg	p.P836S	COBLL1_uc002ucq.3_Missense_Mutation_p.P798S|COBLL1_uc010zcw.2_Missense_Mutation_p.P903S|COBLL1_uc010zcx.2_Missense_Mutation_p.P844S|COBLL1_uc002ucn.3_Missense_Mutation_p.P264S|COBLL1_uc002uco.3_Missense_Mutation_p.P567S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	874										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTAGGCTTCGGTTTAAGGTTT	0.463000														35			18		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137025	126137025	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:126137025G>A	uc001uhe.1	+	7	1946	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	TMEM132B_uc001uhf.1_Silent_p.K158K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	646						integral to membrane		p.K646Q(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGCTGAGAAGACGGTGATTG	0.557000														19			11		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793921	38793921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:38793921G>A	uc003ciq.3	-	10	1544	c.1544C>T	c.(1543-1545)tCa>tTa	p.S515L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	515					sensory perception	voltage-gated sodium channel complex		p.I514S(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTCAGGGAGTGAGATATCTCG	0.602000														37			17		0	0	1	0	0
TIFAB	497189	broad.mit.edu	37	5	134785287	134785287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:134785287G>A	uc003law.4	-	1	544	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.R115C	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	115										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTTCTACGCGAACCAGCATC	0.562000														113			37		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2121513	2121513	+	Silent	SNP	C	T	T	rs137854248		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:2121513C>T	uc002con.3	+	17	1948	c.1842C>T	c.(1840-1842)gcC>gcT	p.A614A	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.A614A|TSC2_uc002coo.3_Silent_p.A614A|TSC2_uc010uvv.2_Silent_p.A577A|TSC2_uc010uvw.2_Silent_p.A565A|TSC2_uc002cop.3_Silent_p.A414A	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	614			A -> D (in TSC2).		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)				CCTGACAGGCCTTTGACTTCC	0.642000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					11			17		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9388640	9388640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:9388640C>T	uc021wam.1	+	17	1703	c.1688C>T	c.(1687-1689)cCa>cTa	p.P563L	PLCB4_uc010gbw.1_Missense_Mutation_p.P563L|PLCB4_uc010gbx.3_Missense_Mutation_p.P575L|PLCB4_uc021wal.1_Missense_Mutation_p.P563L|PLCB4_uc002wnh.3_Missense_Mutation_p.P410L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	563					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			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						AATATCCATCCATATTTGTCC	0.433000														157			45		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34192284	34192284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:34192284G>A	uc001bxm.1	-	15	2548	c.2371C>T	c.(2371-2373)Ccc>Tcc	p.P791S	CSMD2_uc001bxn.1_Missense_Mutation_p.P751S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	751	CUB 5.					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)				CCACCACAGGGAGCTGGGGGG	0.522000														32			5		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513506	61513506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:61513506G>A	uc002ydr.2	-	15	4114	c.3802C>T	c.(3802-3804)Cca>Tca	p.P1268S	DIDO1_uc002yds.2_Missense_Mutation_p.P1268S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1268	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTGGTTCTGGAAGAGGGGGC	0.647000														144			54		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170062080	170062080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:170062080G>A	uc002ues.3	-	40	7837	c.7624C>T	c.(7624-7626)Cgc>Tgc	p.R2542C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2542					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)	ATGGGTACGCGGAAGTTTCCT	0.488000														40			26		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47835896	47835896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:47835896G>A	uc002xuh.3	+	0	65	c.4G>A	c.(4-6)Gta>Ata	p.V2I		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	2						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGACGCATGGTACTTGCGCA	0.607000														12			8		0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203820193	203820193	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:203820193C>T	uc001hac.3	+	18	2731	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V	ZC3H11A_uc001had.3_Silent_p.V705V|ZC3H11A_uc001hae.3_Silent_p.V705V|ZC3H11A_uc001haf.3_Silent_p.V705V|ZC3H11A_uc010pqm.2_Silent_p.V651V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	705							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGCTGTTGTCCCGCTTGTCT	0.413000														115			140		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75684868	75684868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:75684868C>T	uc002bai.3	-	14	2825	c.2566G>A	c.(2566-2568)Ggt>Agt	p.G856S	SIN3A_uc002baj.3_Missense_Mutation_p.G856S|SIN3A_uc010uml.2_Missense_Mutation_p.G856S	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	856					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCCCCAACACCATTGTGCTTC	0.443000														69			44		0	0	1	0	0
PBLD	64081	broad.mit.edu	37	10	70043999	70043999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:70043999G>A	uc001jns.1	-	9	1005	c.802C>T	c.(802-804)Cca>Tca	p.P268S	PBLD_uc001jnr.1_Missense_Mutation_p.P235S|PBLD_uc001jnt.1_Missense_Mutation_p.P268S	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	268					biosynthetic process		isomerase activity	p.P268T(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTTCCGTCTGGACGAAGGGAA	0.458000														67			41		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48132950	48132950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:48132950G>A	uc001rpz.4	-	23	2987	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	AL831948_uc001rpv.3_Intron|RAPGEF3_uc001rpw.3_Missense_Mutation_p.P106S|RAPGEF3_uc001rpx.3_Missense_Mutation_p.P228S|RAPGEF3_uc010sln.2_Missense_Mutation_p.P268S|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Missense_Mutation_p.P771S|RAPGEF3_uc009zkq.3_Missense_Mutation_p.P771S	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	771					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGCATGAAGGGGATGACAGGA	0.607000														25			16		0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233757678	233757678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:233757678C>T	uc002vts.2	-	6	1320	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	NGEF_uc010zmm.1_Missense_Mutation_p.D81N|NGEF_uc010fyg.1_Missense_Mutation_p.D266N	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	358	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGAAGTGGTCGGCCGCATAA	0.572000														61			47		0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102797185	102797185	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:102797185G>A	uc010qpx.2	+	7	952	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SFXN3_uc001ksp.3_Silent_p.L260L	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	Homo sapiens sideroflexin 3 (SFXN3), mRNA.	260					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AAGACTTCCTGAAGGTAGGCG	0.537000														103			64		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11333968	11333968	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:11333968G>A	uc002rbd.1	-	29	4073	c.3624C>T	c.(3622-3624)gtC>gtT	p.V1208V		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1208	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAACTGGTCGGACATGAAATA	0.299000														40			11		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108011178	108011178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:108011178G>A	uc001tmk.1	+	8	2717	c.2196G>A	c.(2194-2196)atG>atA	p.M732I	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.M732I|BTBD11_uc001tml.1_Missense_Mutation_p.M269I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	732						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGGTGATATGAACTCTTTCA	0.517000														38			20		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800586	27800586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:27800586C>T	uc002rkz.4	+	0	1198	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	383										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCCAAACCACAGCATCATGT	0.453000														19			11		0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116746668	116746668	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:116746668G>A	uc001ppy.3	-	8	1015	c.979C>T	c.(979-981)Cga>Tga	p.R327*	SIK3_uc001ppz.3_Nonsense_Mutation_p.R226*|SIK3_uc001pqa.3_Intron	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	327						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTCTTATGTCGATCACACAGC	0.473000														11			34		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100992261	100992261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:100992261C>T	uc010avx.3	+	4	1249	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	WDR25_uc001yhn.3_Missense_Mutation_p.R386W|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_Missense_Mutation_p.R129W	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	386										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CCTGTTCCTCCGGGAAGGCTC	0.597000														35			25		0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748634	102748634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:102748634G>A	uc001ksf.2	+	0	1342	c.667G>A	c.(667-669)Gag>Aag	p.E223K	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.E223K|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	223					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGCTCCTAGAGGCTAAATG	0.547000														23			16		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150737981	150737981	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150737981C>T	uc003wil.4	+	12	1599	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	ABCB8_uc010lpw.1_Missense_Mutation_p.R378C|ABCB8_uc010lpx.3_Silent_p.I485I|ABCB8_uc011kvd.2_Silent_p.I397I|ABCB8_uc003wim.4_Silent_p.I280I|ABCB8_uc003wik.4_Silent_p.I485I	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	502	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGCAAGATCGTGGCCCTCG	0.657000														8			3		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304437	3304437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:3304437C>T	uc002cun.1	-	1	671	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	211					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGCAGCCTCCCCGCGGAGCTG	0.741000														11			4		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215150	141215150	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:141215150C>T	uc002tvj.1	-	60	10668	c.9696G>A	c.(9694-9696)ggG>ggA	p.G3232G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3232					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)		ACTTGGTTTTCCCATCAGTCC	0.428000										TSP Lung(27;0.18)				72			58		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024197	9024197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9024197G>A	uc002mkp.3	-	17	37279	c.37075C>T	c.(37075-37077)Cct>Tct	p.P12359S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12361					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTCCCAGGAGCTGAGGAA	0.483000														15			8		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213652	3213652	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:3213652C>T	uc002fvi.2	+	0	114	c.48C>T	c.(46-48)gtC>gtT	p.V16V						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		CCAAGTTTGTCCTGCTGGGCC	0.542000														53			61		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50764857	50764857	+	Silent	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50764857C>A	uc010enu.1	+	20	2597	c.2550C>A	c.(2548-2550)tcC>tcA	p.S850S	MYH14_uc002prq.1_Silent_p.S817S|MYH14_uc002prr.1_Silent_p.S809S	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	809					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCATCGTCTCCTTCCAGGCAG	0.652000														20			6		8.12818e-05	8.15625e-05	1	1	0
CHRM2	1129	broad.mit.edu	37	7	136700756	136700756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:136700756G>A	uc003vtf.1	+	3	1767	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	CHRM2_uc003vtg.1_Missense_Mutation_p.E382K|CHRM2_uc003vti.1_Missense_Mutation_p.E382K|CHRM2_uc003vtm.1_Missense_Mutation_p.E382K|CHRM2_uc003vtj.1_Missense_Mutation_p.E382K|CHRM2_uc003vtk.1_Missense_Mutation_p.E382K|CHRM2_uc003vtl.1_Missense_Mutation_p.E382K|CHRM2_uc003vtn.1_Missense_Mutation_p.E382K|CHRM2_uc003vto.1_Missense_Mutation_p.E382K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.E382K	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	382					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.R381Q(1)|p.R381L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCTTCCCGGGAAAAGAAAGT	0.458000														13			7		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168397	49168397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:49168397G>A	uc003cwe.3	-	6	1200	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	LAMB2_uc003cwf.1_Missense_Mutation_p.H301Y	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	301	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCTCAGCATGGGCTGGTGCC	0.597000														38			60		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613813	18613813	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:18613813G>A	uc002znw.1	+	3	1629	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	TUBA8_uc002znv.2_Silent_p.E420E|TUBA8_uc021wkt.1_Silent_p.E354E	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	420					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						AATTTTCTGAGGCCAGGGAAG	0.493000														59			24		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208886	1208887	+	Silent	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1208886_1208887CC>TT	uc003jbw.4	+	1	284_285	c.228_229CC>TT	c.(226-231)atcctg>atTTtg	p.76_77IL>IL		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	76					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTTCCTCATCCTGCTGGTCCT	0.673000														26			67		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770908	37770908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:37770908C>T	uc003asq.4	-	2	1453	c.667G>A	c.(667-669)Ggc>Agc	p.G223S	ELFN2_uc021wph.1_Missense_Mutation_p.G223S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	223	LRRCT.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCGGGTAGCCGGCAAACTCC	0.657000														16			9		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27886902	27886902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:27886902C>T	uc003xgm.4	-	16	2178	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	679						nucleus	GTP binding|GTPase activity	p.G679S(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GCTTTTTTGCCCGTGATCTGA	0.542000														10			5		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73450341	73450341	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:73450341G>A	uc001jrx.4	+	19	2560	c.2170_splice	c.e19+1	p.G724_splice	CDH23_uc001jry.3_Splice_Site_p.G724_splice|CDH23_uc001jrz.3_Splice_Site_p.G724_splice	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	726	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGCCCGCTCAGGTGAGCCCCC	0.642000														5			3		0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276950	71276950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:71276950C>T	uc001oqt.1	+	0	342	c.317C>T	c.(316-318)tCt>tTt	p.S106F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	106	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGTTCTTGTGGGGGC	0.677000														81			76		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925689	55925690	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55925689_55925690GG>AA	uc003pcs.3	-	26	2584	c.2352_splice	c.e26+1	p.P784_splice	COL21A1_uc010jzz.3_Splice_Site_p.P169_splice|COL21A1_uc011dxg.2_Splice_Site_p.P157_splice|COL21A1_uc011dxh.2_Splice_Site_p.P169_splice|COL21A1_uc003pcr.3_Splice_Site_p.P141_splice	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	784	Collagen-like 5.				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)			GAATACATACGGGCTTCCCATC	0.485000														11			3		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111066588	111066588	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:111066588C>T	uc001trn.4	+	3	645	c.489C>T	c.(487-489)tcC>tcT	p.S163S	TCTN1_uc010syb.2_Silent_p.S163S|TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Silent_p.S163S|TCTN1_uc001trm.3_Silent_p.S103S|TCTN1_uc001trp.4_Silent_p.S163S|TCTN1_uc001tri.3_Silent_p.S107S|TCTN1_uc001trj.2_Silent_p.S107S|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	163					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CTGCATTATCCTTTATTAATC	0.259000														19			13		0	0	1	0	0
UTS2	10911	broad.mit.edu	37	1	7907881	7907881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:7907881C>T	uc001aos.3	-	4	439	c.365G>A	c.(364-366)tGg>tAg	p.W122*	UTS2_uc001aoq.3_Nonsense_Mutation_p.W107*|UTS2_uc001aor.3_Nonsense_Mutation_p.W107*	NM_021995	NP_068835	O95399	UTS2_HUMAN	Homo sapiens urotensin 2 (UTS2), transcript variant 1, mRNA.	107					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GTATGGTTTCCAGATTCTGGC	0.378000														28			46		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35779280	35779280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35779280G>A	uc003jjo.3	+	29	4390	c.4279G>A	c.(4279-4281)Gaa>Aaa	p.E1427K	SPEF2_uc003jjp.1_Missense_Mutation_p.E913K|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1427					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)			AATTCAGAATGAACTTTATTT	0.373000														55			26		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313965	54313965	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:54313965C>T	uc002qcj.4	-	2	1168	c.948G>A	c.(946-948)gaG>gaA	p.E316E	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.E316E|NLRP12_uc002qci.4_Silent_p.E316E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.E316E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	316	NACHT.				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			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)		TGGGCCGTTTCTCCTCCCAGC	0.567000														26			9		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48619946	48619946	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:48619946G>A	uc003toq.2	+	55	14505	c.14481G>A	c.(14479-14481)ggG>ggA	p.G4827G	ABCA13_uc010kys.1_Silent_p.G1902G|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.G557G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4827	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.E4827E(1)		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						GCTTACGCGGGATTCCAAGGC	0.547000														11			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90000254	90000254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:90000254C>T	uc003kju.3	+	35	8431	c.8335C>T	c.(8335-8337)Cct>Tct	p.P2779S	GPR98_uc003kjt.3_Missense_Mutation_p.P485S|GPR98_uc003kjv.3_Missense_Mutation_p.P379S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2779	Calx-beta 19.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAACATTCCTGAGGAGAA	0.328000														7			3		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541605	55541605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55541605G>A	uc010ril.2	+	0	692	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231Q(6)		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)				ATGAAGATGCGATCTGCAAGT	0.423000														35			48		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36700148	36700148	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:36700148G>A	uc003apg.3	-	18	2514	c.2283C>T	c.(2281-2283)gtC>gtT	p.V761V	MYH9_uc003aph.1_Silent_p.V625V	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	761	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACGGAAGAAGACTTTGCTCT	0.602000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					35			20		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47042819	47042819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:47042819C>T	uc003cqp.3	+	28	4714	c.4535C>T	c.(4534-4536)cCc>cTc	p.P1512L	NBEAL2_uc010hjm.2_Missense_Mutation_p.P889L|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1512							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)		AAAGAGGCCCCCGTGGGGGTC	0.607000														54			24		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432620	3432620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:3432620C>T	uc003ggw.3	+	16	4956	c.4052C>T	c.(4051-4053)cCc>cTc	p.P1351L	RGS12_uc003ggv.3_Missense_Mutation_p.P1351L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P703L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P693L|RGS12_uc010icv.3_Missense_Mutation_p.P550L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1351						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGCAGCCCCAACAGCACC	0.657000														54			14		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881280	108881280	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:108881280G>A	uc010ywo.2	+	6	622	c.622_splice	c.e6-1	p.D208_splice		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	208						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCCACATACAGGACCCAAAGC	0.393000														21			7		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50667245	50667245	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:50667245G>A	uc001jhs.4	-	20	4252	c.4098C>T	c.(4096-4098)gtC>gtT	p.V1366V	ERCC6_uc009xod.3_Silent_p.V526V|ERCC6_uc010qgr.2_Silent_p.V736V|ERCC6_uc001jhr.4_Silent_p.V734V	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1366					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATGCTCAGGGACATTATCTT	0.438000								Direct reversal of damage;Nucleotide excision repair (NER)						72			34		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625962	142625962	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142625962C>T	uc003wby.1	-	6	851	c.587_splice	c.e6-1	p.G196_splice	TRPV5_uc003wbz.3_Splice_Site_p.G196_splice	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	196					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACTGTGTTTCCTGGGGAGGAC	0.552000														53			35		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004057	71004057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:71004057G>A	uc003pfg.4	-	4	668	c.509C>T	c.(508-510)tCg>tTg	p.S170L		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	170	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S170S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGACAAATTCGAAAAGGCTGC	0.428000														103			63		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735788	158735788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:158735788G>A	uc010piq.2	-	0	685	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCAGCTGAGGGAATTCTGAGC	0.498000														110			35		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57868238	57868238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:57868238C>T	uc001sod.3	-	17	2214	c.2021G>A	c.(2020-2022)gGg>gAg	p.G674E	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.G400E|ARHGAP9_uc001soa.3_Missense_Mutation_p.G273E|ARHGAP9_uc001sob.3_Missense_Mutation_p.G584E|ARHGAP9_uc001soc.3_Missense_Mutation_p.G584E|ARHGAP9_uc001soe.1_Missense_Mutation_p.G663E	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	603	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CACATACCTCCCATCGGAGGT	0.512000														21			15		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21698617	21698617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:21698617G>A	uc003svc.3	+	29	5342	c.5311G>A	c.(5311-5313)Gaa>Aaa	p.E1771K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1771	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGGCTACGAAACAGCCCT	0.398000									Kartagener syndrome					4			3		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345628	53345628	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:53345628C>T	uc001sbe.3	+	5	1005	c.936C>T	c.(934-936)tcC>tcT	p.S312S	KRT18_uc009zmn.2_Silent_p.S312S|KRT18_uc001sbg.3_Silent_p.S312S|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	312	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.			S -> R (in Ref. 8; CAA31369).	Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACCTGGACTCCATGAGAAATC	0.552000														32			19		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613723	14613723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:14613723C>T	uc001rbw.3	+	8	2611	c.2453C>T	c.(2452-2454)tCt>tTt	p.S818F	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.3_Missense_Mutation_p.S818F|ATF7IP_uc001rbv.1_Missense_Mutation_p.S817F|ATF7IP_uc001rbx.3_Missense_Mutation_p.S817F|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.4_Missense_Mutation_p.S818F|ATF7IP_uc001rca.3_Missense_Mutation_p.S818F	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	818					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAATTCATTTCTGTGCAAAGC	0.473000														56			23		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2807826	2807826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2807826G>A	uc022aqr.1	-	66	10631	c.10241C>T	c.(10240-10242)gCt>gTt	p.A3414V	CSMD1_uc011kwj.2_Missense_Mutation_p.A2729V|CSMD1_uc010lrg.3_Missense_Mutation_p.A1306V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3415						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)		AATTTGAAAAGCTTTCAGGAG	0.398000														83			33		0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248651948	248651948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:248651948G>A	uc001iem.1	+	0	59	c.59G>A	c.(58-60)gGa>gAa	p.G20E		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			ATCCTCATGGGACTCTTCAGA	0.483000														88			15		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240187	167240187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:167240187G>A	uc003fev.1	-	11	1938	c.1634C>T	c.(1633-1635)tCt>tTt	p.S545F	WDR49_uc003feu.1_Missense_Mutation_p.S370F|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	545								p.S545Y(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGAAAATAAAGAAATTTCCTT	0.313000														22			20		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924969	55924969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:55924969G>A	uc003pcs.3	-	27	2687	c.2455C>T	c.(2455-2457)Cat>Tat	p.H819Y	COL21A1_uc010jzz.3_Missense_Mutation_p.H204Y|COL21A1_uc011dxg.2_Missense_Mutation_p.H192Y|COL21A1_uc011dxh.2_Intron|COL21A1_uc003pcr.3_Missense_Mutation_p.H176Y	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	819					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)			GACAGGCAATGATCACAATTT	0.493000														20			9		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791674	76791674	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:76791674G>A	uc001sye.1	-	7	952	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	OSBPL8_uc001syf.1_Missense_Mutation_p.R116C|OSBPL8_uc001syg.1_Missense_Mutation_p.R116C|OSBPL8_uc001syh.1_Missense_Mutation_p.R133C	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	158	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AGAGTACCACGAATCTACAGA	0.353000														20			16		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71354263	71354263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:71354263C>T	uc010dfm.3	-	39	5548	c.5548G>A	c.(5548-5550)Ggc>Agc	p.G1850S	SDK2_uc002jjt.4_Missense_Mutation_p.G990S|SDK2_uc010dfn.2_Missense_Mutation_p.G1529S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1850	Fibronectin type-III 13.				cell adhesion	integral to membrane		p.P1849P(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCCCTTTGCCCGGGTCTCCG	0.647000														98			90		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115351418	115351418	+	Silent	SNP	C	T	T	rs143698388		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:115351418C>T	uc003kro.3	+	17	2876	c.2712C>T	c.(2710-2712)gtC>gtT	p.V904V	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.	904					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.V904V(1)									GCCGGTATGTCGCAAAAGACT	0.413000														23			30		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628285	71628285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:71628285C>T	uc004agy.3	-	0	755	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	242	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATGGGCTGGTCGGCGTAGAAG	0.592000														49			42		0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134254059	134254059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:134254059C>T	uc001qhq.3	-	3	397	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	B3GAT1_uc001qhr.3_Missense_Mutation_p.E46K|B3GAT1_uc010scv.1_Missense_Mutation_p.E59K	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	46					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGGCGTTTCGCGTCGGGGG	0.706000														4			13		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372429	135372429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:135372429C>T	uc001lno.2	-	3	328	c.223G>A	c.(223-225)Gga>Aga	p.G75R	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Missense_Mutation_p.G75R|SYCE1_uc001lnn.2_Missense_Mutation_p.G39R	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	75					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CGGGCCTCTCCTAGGTCTTTA	0.517000														17			17		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232667	113232667	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:113232667C>T	uc001eck.3	+	4	1053	c.783C>T	c.(781-783)atC>atT	p.I261I	MOV10_uc001ecl.2_Silent_p.I261I|MOV10_uc001ecn.3_Silent_p.I261I|MOV10_uc001ecm.3_Silent_p.I201I|MOV10_uc009wgj.1_Silent_p.I201I	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	261					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGACCCGGATCACCGGAAACC	0.612000														97			24		0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347940	65347941	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:65347940_65347941CC>TT	uc001oeo.4	+	5	889_890	c.624_625CC>TT	c.(622-627)gtcccc>gtTTcc	p.P209S		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	209										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCTCGAGTCCCCCAGCCAGG	0.634000														62			14		0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38261941	38261941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:38261941C>T	uc003xlm.2	+	7	1226	c.994C>T	c.(994-996)Cct>Tct	p.P332S	LETM2_uc011lbn.2_Missense_Mutation_p.P176S|LETM2_uc003xll.2_Missense_Mutation_p.P284S|LETM2_uc003xln.2_Missense_Mutation_p.P176S|LETM2_uc003xlo.2_Missense_Mutation_p.P176S	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	379	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGAGAACGTCCCTCCTTCCCT	0.552000														84			33		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228779	3228779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:3228779G>A	uc004crg.4	-	6	7622	c.7465C>T	c.(7465-7467)Cca>Tca	p.P2489S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2489	Ig-like C2-type 9.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCATAGTATGGAGCTGGCAGA	0.572000														0			7		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14792868	14792868	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:14792868C>T	uc001rcd.3	-	18	2222	c.2085G>A	c.(2083-2085)gtG>gtA	p.V695V		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	695	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.R694G(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGGAATTTTCCACTCTGAAAA	0.363000														36			18		0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844382	77844382	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:77844382G>A	uc001xtq.1	+	0	621	c.621G>A	c.(619-621)gaG>gaA	p.E207E	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Silent_p.E207E	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	207										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTCTAGAGCCTCCAGAGC	0.458000														53			34		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212293154	212293154	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:212293154G>A	uc002veg.1	-	21	2796	c.2698C>T	c.(2698-2700)Cag>Tag	p.Q900*	ERBB4_uc002veh.1_Nonsense_Mutation_p.Q900*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q890*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q890*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	900	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACGTCACTCTGATGGGTGAAT	0.299000										TSP Lung(8;0.080)				40			25		0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49116546	49116546	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:49116546G>A	uc002pjn.2	-	0	149	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	28										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGCCCTCGGAATATAGAA	0.706000														8			7		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608919	608919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:608919C>T	uc001lqe.3	+	13	3594	c.3463C>T	c.(3463-3465)Ccc>Tcc	p.P1155S	PHRF1_uc010qwc.2_Missense_Mutation_p.P1154S|PHRF1_uc010qwd.2_Missense_Mutation_p.P1153S|PHRF1_uc010qwe.2_Missense_Mutation_p.P1151S|PHRF1_uc009ybz.1_Missense_Mutation_p.P945S|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1155	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGTGGCGTGGCCCCGAGACCG	0.701000														15			8		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67235303	67235303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:67235303C>T	uc002esa.3	+	8	962	c.919C>T	c.(919-921)Ctt>Ttt	p.L307F	ELMO3_uc002esb.3_Missense_Mutation_p.L290F|ELMO3_uc002esc.3_Missense_Mutation_p.L141F	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	254	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCTTGACTATCTTTGGCAGAG	0.607000														94			58		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699378	67699378	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:67699378T>A	uc001stn.2	+	9	2367	c.1930T>A	c.(1930-1932)Ttg>Atg	p.L644M	CAND1_uc001sto.2_Missense_Mutation_p.L154M	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	644					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAGATAGATTTGAGGCCTGT	0.403000														53			33		0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154507335	154507335	+	Missense_Mutation	SNP	G	A	A	rs5940668		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:154507335G>A	uc004fnf.3	-	5	851	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C		NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	201	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	p.R201C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAAAGTCACGATATTTCTTG	0.398000														9			28		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24346730	24346730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:24346730G>A	uc003xeb.3	+	11	1263	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ADAM7_uc003xec.3_Missense_Mutation_p.D156N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	384	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTACTTGAAGGATTATAAGCC	0.353000														38			39		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634325	70634325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70634325C>T	uc001xly.3	-	1	1569	c.815G>A	c.(814-816)gGa>gAa	p.G272E	SLC8A3_uc001xlw.3_Missense_Mutation_p.G272E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G272E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G272E|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	272	Calmodulin-binding (By similarity).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R271*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATGATAATTCCTCGGTGTTT	0.468000														18			17		0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40613801	40613801	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:40613801G>A	uc002lav.3	-	1	308	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RIT2_uc010dnf.3_Silent_p.F45F	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	45					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATAATCAGGGAACTGATGAC	0.318000														31			12		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24805566	24805566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:24805566C>T	uc001wpb.3	-	9	1582	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.V258M|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.V237M	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	458					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	p.V458fs*9(2)|p.G457W(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCAACTTGCACCCCAGAGCAG	0.547000														64			28		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133333923	133333923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:133333923G>A	uc010mza.3	+	4	1046	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	ASS1_uc004bzm.3_Missense_Mutation_p.E104K|ASS1_uc004bzn.3_Missense_Mutation_p.E104K	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	104			S -> N (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CAAACAAGTGGAAATCGCCCA	0.657000														15			7		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15894599	15894599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:15894599C>T	uc001aws.3	+	14	2396	c.2276C>T	c.(2275-2277)tCt>tTt	p.S759F	DNAJC16_uc001awt.3_Missense_Mutation_p.S447F|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	759					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGCAAGCTCTCTTTATGGATG	0.488000														14			29		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18658818	18658818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:18658818C>T	uc003wza.3	-	6	2088	c.1985G>A	c.(1984-1986)aGa>aAa	p.R662K	PSD3_uc003wyy.3_Missense_Mutation_p.R128K|PSD3_uc003wyz.3_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	662	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATAAAAATATCTATTGGAGAA	0.289000														32			51		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255420	1255420	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:1255420G>A	uc003jcb.1	-	13	3197	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	TERT_uc003jbz.1_Silent_p.L243L|TERT_uc003jcc.1_Silent_p.L984L|TERT_uc003jca.1_Silent_p.L1035L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_3'UTR|TERT_uc021xwb.1_Silent_p.L199L	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1047	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTGGCTTTCAGGATGGAGTAG	0.557000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					19			11		0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26218212	26218212	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:26218212C>T	uc001rgx.3	+	2	1111	c.885C>T	c.(883-885)atC>atT	p.I295I	RASSF8_uc001rgy.3_Silent_p.I295I|RASSF8_uc001rgz.3_Silent_p.I295I|RASSF8_uc009zjd.2_Silent_p.I295I|RASSF8_uc009zje.2_Silent_p.I295I	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	295					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					AAGGAAAGATCGGTAAGGTCA	0.468000														57			27		0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61666411	61666411	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:61666411C>T	uc002jbc.3	+	7	1123	c.906C>T	c.(904-906)gcC>gcT	p.A302A	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Silent_p.A102A|DCAF7_uc021ubl.1_5'Flank	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	302					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TGCCCCGAGCCATTGAGGACC	0.542000														44			15		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420451	105420451	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:105420451A>C	uc010axc.1	-	6	1457	c.1337T>G	c.(1336-1338)aTg>aGg	p.M446R	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.M346R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	446						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCCGGCTCATTCCAGGAGT	0.632000														23			9		0	0	1	0	0
DDA1	79016	broad.mit.edu	37	19	17426787	17426787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:17426787C>T	uc002ngd.3	+	3	308	c.181C>T	c.(181-183)Cag>Tag	p.Q61*		NM_024050	NP_076955	Q9BW61	DDA1_HUMAN	Homo sapiens DET1 and DDB1 associated 1 (DDA1), mRNA.	61										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CTACCTGCATCAGCAATGGGA	0.577000														144			78		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569951	47569952	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:47569951_47569952GG>AA	uc002pga.4	-	14	3611_3612	c.3573_3574CC>TT	c.(3571-3576)gtccgc>gtTTgc	p.R1192C	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1192							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCAGACTTGCGGACGAACGGGG	0.663000														17			5		0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405846	20405846	+	RNA	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:20405846G>A	uc002gxb.3	-	4		c.1190C>T								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		TTGTTGAGGGGGTGGTGGCCA	0.527000														50			12		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91198523	91198523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:91198523G>A	uc001kgm.3	-	5	1167	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SLC16A12_uc001kgl.3_5'Flank	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	259						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AAACAGAACGGAGACGGCTAA	0.448000														25			18		0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50865262	50865262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50865262G>A	uc002prx.3	-	2	366	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	105					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CTCCTGGACGGGACCCAGAGA	0.547000														5			4		0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111427002	111427002	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:111427002C>T	uc003dya.3	+	1	963	c.393C>T	c.(391-393)atC>atT	p.I131I	PLCXD2_uc003dxz.3_Silent_p.I131I	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	131	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.F130S(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCTACTTCATCCATGGGCTTT	0.502000														92			38		0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9494243	9494243	+	Silent	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:9494243T>C	uc001mhr.3	+	2	251	c.132T>C	c.(130-132)aaT>aaC	p.N44N	ZNF143_uc009yfu.3_Silent_p.N44N|ZNF143_uc010rby.2_Intron	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	44					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACTTAGAAAATATGGAAGGCG	0.343000														75			39		0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2825384	2825384	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:2825384C>T	uc004cqy.3	-	9	1810	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	570						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGCCACGGCTTCCACAGGA	0.612000														3			19		0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15591462	15591462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:15591462G>A	uc011lmu.2	+	3	562	c.451G>A	c.(451-453)Gat>Aat	p.D151N	CCDC171_uc010mih.1_Missense_Mutation_p.D151N|CCDC171_uc003zmd.3_Missense_Mutation_p.D151N|CCDC171_uc003zme.3_Missense_Mutation_p.D58N|CCDC171_uc003zmc.2_Missense_Mutation_p.D151N	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	151	Glu-rich.																ATTTGAACATGATTTGGAGGA	0.333000														15			26		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699839	17699839	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:17699839C>T	uc002grm.3	+	2	4046	c.3577C>T	c.(3577-3579)Ccc>Tcc	p.P1193S	RAI1_uc002grn.1_Missense_Mutation_p.P1193S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1193						cytoplasm|nucleus	zinc ion binding	p.S1192G(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTCCAGCAGCCCCCAGAAGGA	0.662000														36			39		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896750	124896750	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:124896750A>C	uc003ehw.4	-	4	616	c.546T>G	c.(544-546)aaT>aaG	p.N182K	SLC12A8_uc003ehv.4_Missense_Mutation_p.N153K|SLC12A8_uc010hrz.1_Missense_Mutation_p.N18K	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	153					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CAGCCCAGATATTCCCGAGGC	0.532000														37			36		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13429817	13429817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:13429817C>T	uc003bxv.1	-	4	753	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	224					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGACAGCCTCCTGGATGCGA	0.577000														41			55		0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127292608	127292608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:127292608G>A	uc003ejn.2	-	10	1211	c.878C>T	c.(877-879)tCc>tTc	p.S293F	TPRA1_uc003ejl.2_Missense_Mutation_p.S293F|TPRA1_uc010hsk.2_Silent_p.L238L|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	293					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCATTTGTAGGAGAAGAGGAT	0.597000														40			10		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974661	20974661	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20974661G>A	uc010vbe.2	-	52	10545	c.10545C>T	c.(10543-10545)tcC>tcT	p.S3515S	DNAH3_uc010vbd.2_Silent_p.S950S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3515	AAA 6 (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)		CACAGCAGCTGGAATCATTGT	0.498000														40			16		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98058819	98058819	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:98058819G>A	uc001drv.3	-	9	1220	c.1083C>T	c.(1081-1083)atC>atT	p.I361I		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	361					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTGAAGACGATGAACACAC	0.458000														111			25		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7420457	7420457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:7420457C>T	uc003src.1	-	28	2359	c.2242G>A	c.(2242-2244)Ggt>Agt	p.G748S	COL28A1_uc011jxe.1_Missense_Mutation_p.G431S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	748	Collagen-like 6.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTTATCACCTTTCTTTCCC	0.408000														83			28		0	0	1	0	0
GJB6	10804	broad.mit.edu	37	13	20797593	20797593	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:20797593G>A	uc001und.4	-	2	414	c.27C>T	c.(25-27)ttC>ttT	p.F9F	GJB6_uc001umz.4_Silent_p.F9F|GJB6_uc001unb.4_Silent_p.F9F|GJB6_uc001unc.4_Silent_p.F9F|GJB6_uc001una.4_Silent_p.F9F|GJB6_uc021rhb.1_Silent_p.F9F	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	9					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CACCCCCGATGAAAGTGTGCA	0.507000														150			52		0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411779	39411779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:39411779C>T	uc021txh.1	+	0	144	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA.	48						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCTTGCTGCCGCCCAGCTTG	0.642000														59			32		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643672	94643672	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:94643672C>T	uc001dqj.4	-	20	2901	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.V410V	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	844	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GTCCAAATATCACCCCCAAGT	0.423000														73			77		0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70420239	70420239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:70420239C>T	uc001xlt.2	+	2	650	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SMOC1_uc001xls.2_Missense_Mutation_p.S123F	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	123	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GAGGATGGCTCCTTTACCCAG	0.632000														31			13		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452990	138452990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:138452990C>T	uc003ihe.4	-	0	640	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	PCDH18_uc003ihf.4_Missense_Mutation_p.E78K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	85	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCTGATTTCCCCATTATCC	0.433000														162			54		0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66622018	66622018	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:66622018A>G	uc002ept.3	+	3	903	c.743A>G	c.(742-744)aAa>aGa	p.K248R	CMTM2_uc010cdu.3_Missense_Mutation_p.K195R	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	248					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AAGGGAAAGAAATGACTTGGA	0.512000														27			12		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137600659	137600659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:137600659G>A	uc003vtw.3	-	2	815	c.419C>T	c.(418-420)cCg>cTg	p.P140L	CREB3L2_uc003vtx.2_Missense_Mutation_p.P140L|CREB3L2_uc003vty.4_Missense_Mutation_p.P140L|CREB3L2_uc003vtv.3_Missense_Mutation_p.P77L	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	140					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P140L(2)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGTGACAGACGGAACGAGTCC	0.498000			T	FUS	fibromyxoid sarcoma									36			19		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28489124	28489124	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:28489124G>A	uc002dpo.3	-	13	1454	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Silent_p.I299I|CLN3_uc002dpm.3_Silent_p.I323I|CLN3_uc010vcu.2_Silent_p.I277I|CLN3_uc010vcv.2_Silent_p.I353I|CLN3_uc002dpp.3_Silent_p.I377I|CLN3_uc021tfs.1_Silent_p.I224I|CLN3_uc002dpt.1_Silent_p.I277I|CLN3_uc002dpq.1_Silent_p.I329I|CLN3_uc010bye.1_Silent_p.I360I|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Silent_p.I250I|CLN3_uc002dpu.1_Silent_p.I275I	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	377					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CATACAGAATGATCAGGAAGA	0.607000														33			29		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884344	23884344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23884344C>T	uc001wjx.3	-	36	5525	c.5419G>A	c.(5419-5421)Ggc>Agc	p.G1807S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1807					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTTGCCGCCCTTGAGGGCG	0.622000														51			35		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205307724	205307724	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:205307724C>T	uc001hcf.1	-	5	1326	c.758_splice	c.e5-1	p.G253_splice	KLHDC8A_uc010prg.1_Splice_Site_p.G140_splice|KLHDC8A_uc001hcg.1_Splice_Site_p.G253_splice	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	253										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGCCATCCCCCTATAGGCCA	0.517000														53			38		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968963	28968963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:28968963G>A	uc002kwr.2	+	4	634	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	DSG4_uc002kwq.2_Missense_Mutation_p.E167K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	167	Cadherin 2.		Missing (in LAH1).		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)			AGCCAGCATTGAAGAAAATAG	0.403000														33			9		0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149238	61149238	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:61149238C>T	uc002sam.1	+	10	1652	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	REL_uc002san.1_Silent_p.S444S	NM_002908	NP_002899	Q04864	REL_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA.	476					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAGCGTCATCCATGCCATCAG	0.423000			A		Hodgkin Lymphoma									44			12		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599149	62599149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:62599149C>T	uc010ihh.3	+	4	1245	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	LPHN3_uc003hcq.4_Missense_Mutation_p.P358S|LPHN3_uc010ihg.1_Missense_Mutation_p.P426S|LPHN3_uc003hcs.1_Missense_Mutation_p.P187S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	358	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTACCCTTTCCTAATTCATA	0.383000														12			14		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103120155	103120155	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:103120155C>T	uc002tbz.4	+	2	1426	c.969C>T	c.(967-969)tcC>tcT	p.S323S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	323					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCTATCTCTCCGGCATCCTGG	0.423000														50			27		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350173	51350173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:51350173G>A	uc001zyy.3	-	2	884	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	262										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGGGTGGAGAGGAACTCCACA	0.522000														31			12		0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109047786	109047786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:109047786G>A	uc003dxq.4	-	5	884	c.829C>T	c.(829-831)Cca>Tca	p.P277S	DPPA4_uc011bho.2_Missense_Mutation_p.S178F	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	277						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGCGGGGGTGGAAAATTGGAG	0.473000														29			31		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47160510	47160510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:47160510C>T	uc001rpi.2	-	16	2017	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	SLC38A4_uc001rpj.2_Missense_Mutation_p.D540N	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	540					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTTGGAGGATCATAAATCCAG	0.323000														8			8		0	0	1	0	0
PMP22	5376	broad.mit.edu	37	17	15162439	15162439	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:15162439G>A	uc002goj.3	-	1	199	c.150C>T	c.(148-150)gtC>gtT	p.V50V	PMP22_uc002gok.3_Silent_p.V50V|PMP22_uc002gol.3_Silent_p.V50V	NM_153322	NP_696997	Q01453	PMP22_HUMAN	Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 3, mRNA.	50					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AACAGTGGTGGACATTTCCTG	0.498000														52			17		0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4965103	4965103	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:4965103C>T	uc003sno.4	-	1	304	c.108G>A	c.(106-108)gcG>gcA	p.A36A	MMD2_uc003snl.1_Non-coding_Transcript|MMD2_uc003snn.4_Silent_p.A36A|MMD2_uc010ksq.3_Silent_p.A36A	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	36						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CACAGTTGGCCGCATGTTCAT	0.602000														83			39		0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794821	7794821	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:7794821C>T	uc002mhp.4	-	8	697	c.628_splice	c.e8-1	p.G210_splice	CLEC4G_uc021uny.1_Splice_Site_p.G198_splice	NM_198492	NP_940894	Q6UXB4	CLC4G_HUMAN	Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA.	210	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						AGTGAGGAAGCCCTAGAAAGG	0.687000														24			20		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649087	47649087	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:47649087C>T	uc010jzj.1	+	5	793	c.792C>T	c.(790-792)atC>atT	p.I264I	GPR111_uc003oyy.3_Silent_p.I196I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGCTATATCCTGCTACATT	0.408000														89			62		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6050615	6050615	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:6050615T>G	uc010idb.1	-	15	2483	c.1997A>C	c.(1996-1998)cAa>cCa	p.Q666P	JAKMIP1_uc010idc.1_Missense_Mutation_p.Q481P|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	439					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTTCCAGCTTGGATTATTGC	0.468000														54			12		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14263229	14263229	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:14263229G>A	uc010xnn.2	-	21	3852	c.3556C>T	c.(3556-3558)Ctg>Ttg	p.L1186L	LPHN1_uc010xno.2_Silent_p.L1181L|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1186					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTTGGTCAGCAGGTGGTTC	0.622000														25			24		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255117	30255117	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:30255117G>A	uc001msl.3	+	3	229	c.160_splice	c.e3-1	p.D54_splice	FSHB_uc001msm.3_Splice_Site_p.D54_splice|FSHB_uc001msn.3_Splice_Site_p.D54_splice	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	54					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AACTCCTCAGGATCTGGTGTA	0.428000														32			10		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16979627	16979627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:16979627C>T	uc001ioo.3	-	38	5942	c.5890G>A	c.(5890-5892)Gat>Aat	p.D1964N		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1964					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGGTGCATCCACTGCAAAC	0.418000														31			12		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11078575	11078575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:11078575G>A	uc010hdq.3	+	15	2134	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	575					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCAGCCCAGCGAAGACATCGT	0.642000														81			26		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877898	200877898	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:200877898C>T	uc001gvo.3	+	6	912	c.870C>T	c.(868-870)gcC>gcT	p.A290A	C1orf106_uc010ppm.2_Silent_p.A205A	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	290	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGTCTCCAGCCCCACCTTCTC	0.607000														100			90		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72083978	72083978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:72083978G>A	uc001osj.3	-	4	777	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	CLPB_uc010rqx.2_Missense_Mutation_p.P198S|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Intron|CLPB_uc010rqz.2_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	243					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCGCCAGCGGGGAGTCCTAGC	0.527000														66			65		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955399	141955399	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:141955399C>T	uc003vxb.3	-	1	455	c.135G>A	c.(133-135)ctG>ctA	p.L45L	PRSS58_uc003vxc.4_Silent_p.L45L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	45	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.L45L(2)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCGGGTGGATCAGGACTCCAG	0.498000														41			25		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347050	48347050	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:48347050C>T	uc010rhv.2	+	0	558	c.558C>T	c.(556-558)ctC>ctT	p.L186L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTCAGCTCCTCCTGGTCCTTT	0.527000														95			16		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616713	79616713	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:79616713C>T	uc011ctk.1	-	0		c.946G>A			SPZ1_uc003kgn.3_Nonsense_Mutation_p.Q227*			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCAACAAAGTCAGGAAAAAGC	0.353000														35			7		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519485	53519485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:53519485G>A	uc003pcb.4	-	1	727	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	196	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTTATCCCGAATAAATTTC	0.348000														48			36		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018507	143018507	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:143018507C>T	uc003wcr.1	+	3	570	c.483C>T	c.(481-483)ttC>ttT	p.F161F	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.F9F	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	161			F -> V (in THD and MCR).		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)					CTCTGCAGTTCCTGGTCTGGG	0.592000														52			23		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25404711	25404711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:25404711G>A	uc001upr.3	+	16	2376	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	RNF17_uc010tdd.1_Missense_Mutation_p.D638N|RNF17_uc010tde.2_Missense_Mutation_p.D779N|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D718N|RNF17_uc010aac.3_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	779	Tudor 1.				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)		TAAAATAAAGGATGAGTTTCT	0.328000														56			59		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127414390	127414390	+	Missense_Mutation	SNP	C	T	T	rs149421957		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:127414390C>T	uc001liq.1	+	5	1068	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	C10orf137_uc001lin.3_Missense_Mutation_p.P259S|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.P259S	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTCTGAAGATCCCAGTGCTTC	0.408000														19			14		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23530677	23530677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:23530677C>T	uc001wit.4	-	16	3756	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.R385Q|ACIN1_uc001wiq.4_Missense_Mutation_p.R385Q|ACIN1_uc001wir.4_Missense_Mutation_p.R416Q|ACIN1_uc001wis.4_Missense_Mutation_p.R824Q|ACIN1_uc010akg.3_Missense_Mutation_p.R1130Q|ACIN1_uc010tnj.2_Missense_Mutation_p.R1103Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1143	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCACTGTTCCCGCACTGCCCG	0.682000														96			66		0	0	1	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279136	2279136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:2279136G>A	uc003slm.3	-	1	244	c.215C>T	c.(214-216)cCc>cTc	p.P72L	FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	72					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCGAAGGCCGGGCCGCAGAAT	0.637000														11			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232864	141232864	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:141232864G>A	uc002tvj.1	-	59	10440	c.9468C>T	c.(9466-9468)ggC>ggT	p.G3156G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3156					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)		TTCCAACACGGCCAATATGAG	0.368000										TSP Lung(27;0.18)				55			29		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945163	66945163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:66945163C>T	uc002eql.3	-	13	2040	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	CDH16_uc010cdy.3_Missense_Mutation_p.E616K|CDH16_uc021tjx.1_Missense_Mutation_p.E616K|CDH16_uc002eqm.3_Missense_Mutation_p.E519K	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	616	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCACCTCCCCGGAGAAT	0.597000														20			8		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813184	2813184	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2813184G>A	uc022aqr.1	-	63	10311	c.9921C>T	c.(9919-9921)ttC>ttT	p.F3307F	CSMD1_uc011kwj.2_Silent_p.F2637F|CSMD1_uc010lrg.3_Silent_p.F1199F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3308	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)		CCCCTGCGAGGAAAAAGCCTG	0.507000														61			25		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543503	28543503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:28543503C>T	uc003nlo.3	-	2	1597	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	327					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						AACTCTTTCTCCATGCGAGTA	0.373000														124			62		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77297636	77297636	+	Missense_Mutation	SNP	G	A	A	rs138111283	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:77297636G>A	uc001xsx.2	+	2	422	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	103										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TACTTCATTCGGAACATGGAG	0.537000														38			21		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48438697	48438697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:48438697G>A	uc001jfb.3	-	0	442	c.14C>T	c.(13-15)cCc>cTc	p.P5L	GDF10_uc009xnp.3_Missense_Mutation_p.P5L|GDF10_uc009xnq.2_Missense_Mutation_p.P5L	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	5					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTCCGAGCGGGGACATGAGC	0.716000														22			5		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165706911	165706911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:165706911C>T	uc003qum.4	-	5	1147	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	371										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTGATCGTTCCTTTGCAGAC	0.458000														46			148		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113307728	113307728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:113307728G>A	uc010syl.2	+	9	1042	c.680G>A	c.(679-681)gGa>gAa	p.G227E	RPH3A_uc001ttz.3_Missense_Mutation_p.G227E|RPH3A_uc001tty.3_Missense_Mutation_p.G223E|RPH3A_uc009zwe.1_Missense_Mutation_p.G223E|RPH3A_uc010sym.2_Missense_Mutation_p.G178E|RPH3A_uc001tua.3_5'UTR	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	227	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCCGGGCGAGGAAACTATGGG	0.577000														59			23		0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168065881	168065881	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:168065881G>A	uc010pln.2	-	3	1558	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L	GPR161_uc001gfb.3_Silent_p.L190L|GPR161_uc001gfc.3_Silent_p.L322L|GPR161_uc010pll.2_Silent_p.L232L|GPR161_uc010plm.2_Silent_p.L208L|GPR161_uc009wvo.3_Silent_p.L339L|GPR161_uc001gfd.3_Silent_p.L322L|GPR161_uc001gfe.1_Silent_p.L322L	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	322					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCATAGATCAGGGGGTGGCAG	0.572000														74			30		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980499	121980499	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121980499G>A	uc003eew.4	+	3	1055	c.617G>A	c.(616-618)tGg>tAg	p.W206*	CASR_uc003eev.4_Nonsense_Mutation_p.W206*	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	206					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TATTTCCGCTGGAACTGGGTG	0.522000														145			57		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106994082	106994082	+	RNA	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:106994082C>T	uc021ser.1	-	233		c.9172G>A								Parts of antibodies, mostly variable regions.																		TACCAAGCCTCCCCCAGACTC	0.557000														64			55		0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43570718	43570718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:43570718C>T	uc002lbp.4	-	12	1021	c.925G>A	c.(925-927)Gga>Aga	p.G309R	PSTPIP2_uc002lbq.4_Silent_p.E276E|RN7SK_uc021ujh.1_5'Flank	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	309						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GGGAGGGGTCCTCTCCTGTAA	0.358000														22			13		0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	933448	933449	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:933448_933449AC>TT	uc003sjl.1	+	6	910_911	c.818_819AC>TT	c.(817-819)aac>aTT	p.N273I	GET4_uc003sjj.1_Non-coding_Transcript	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN	Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA.	273					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCATGTACAACGAGGTGAGAG	0.644000														15			11		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230598	56230598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:56230598C>T	uc010rjj.2	-	0	280	c.280G>A	c.(280-282)Gga>Aga	p.G94R	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACCAAGCATCCCACATAGGAA	0.493000														45			48		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37612300	37612300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:37612300G>A	uc003onu.1	-	12	3553	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S	MDGA1_uc003onv.1_Missense_Mutation_p.P61S	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	792	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATGTCGGTGGGGGGACCAGTG	0.607000														23			8		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506870	155506871	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:155506870_155506871GG>AA	uc003iod.1	-	4	1768_1769	c.1710_1711CC>TT	c.(1708-1713)ttccct>ttTTct	p.P571S	FGA_uc003ioe.1_Missense_Mutation_p.P571S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	571					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCACGGGAAGGGAATTCAGCTA	0.431000														39			35		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437504	120437504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:120437504C>T	uc001eij.3	-	0	1644	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	486	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAAGGGGTTCCATCCTGCTTA	0.488000														33			17		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449590	55449590	+	Missense_Mutation	SNP	G	A	A	rs104895549		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:55449590G>A	uc002qih.4	-	4	2027	c.1951C>T	c.(1951-1953)Ccg>Tcg	p.P651S	NLRP7_uc010esk.3_Missense_Mutation_p.P651S|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.P651S|NLRP7_uc010esl.3_Missense_Mutation_p.P679S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	651			P -> S (in HYDM).				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)		GCCCAGTTCGGAATGGTTAGG	0.493000														41			28		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167525063	167525063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:167525063G>A	uc010jjd.3	+	8	1744	c.1744G>A	c.(1744-1746)Ggg>Agg	p.G582R	ODZ2_uc003lzq.2_Missense_Mutation_p.G461R|ODZ2_uc003lzr.4_Missense_Mutation_p.G350R	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TAACTGCCATGGGAATGGTGA	0.473000														22			25		0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71175867	71175867	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:71175867G>A	uc001jpn.2	-	0	808	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	71					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GATTGACGATGAAGTAGTTGG	0.577000														30			15		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857370	68857370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:68857370C>T	uc001jmz.1	+	2	2112	c.1562C>T	c.(1561-1563)aCc>aTc	p.T521I	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	521						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATGTGTCAACCTTTCTGGCA	0.398000														29			17		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84606660	84606660	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:84606660C>T	uc004amn.3	+	3	1322	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	425						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						GGGGTGATTTCCTGATGTGGA	0.428000														17			21		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172099	81172099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:81172099G>A	uc002bfw.1	+	3	544	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	KIAA1199_uc010unn.1_Missense_Mutation_p.R95Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	95	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATTGTTTTGCGAACCCGGCAC	0.498000														44			24		0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7350834	7350834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:7350834C>T	uc002ghb.3	+	5	516	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	CHRNB1_uc010vty.2_Missense_Mutation_p.P87S|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 1 (muscle) (CHRNB1), mRNA.	159					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CACCTACTTCCCCTTCGACTG	0.587000														86			18		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317924	77317924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:77317924G>A	uc002ffc.4	-	22	4014	c.3595C>T	c.(3595-3597)Cct>Tct	p.P1199S		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1199	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCATGCTGAGGAACTAGGTGA	0.433000														58			30		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98348837	98348837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:98348837G>A	uc001drv.3	-	1	270	c.133C>T	c.(133-135)Cct>Tct	p.P45S	DPYD_uc010oub.1_Intron|DPYD_uc001drw.3_Missense_Mutation_p.P45S	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	45					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTTATCAGGATTTCTTTTC	0.373000														21			17		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181759595	181759595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:181759595G>A	uc009wxt.3	+	43	5996	c.5801G>A	c.(5800-5802)gGa>gAa	p.G1934E	CACNA1E_uc001gow.3_Missense_Mutation_p.G1934E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1915E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1934					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCCGGAGTGGATACCCTTCG	0.542000														53			21		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476012	120476012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:120476012G>A	uc004bjz.3	+	2	1897	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	TLR4_uc004bkb.3_Missense_Mutation_p.D336N|TLR4_uc004bka.3_Missense_Mutation_p.D496N	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	536					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTTTTCATTGGATACGTTTCC	0.408000														25			9		0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32948372	32948372	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:32948372C>T	uc010xcf.1	-	4	1077	c.945G>A	c.(943-945)aaG>aaA	p.K315K		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	Homo sapiens zinc finger protein 396 (ZNF396), mRNA.	0					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGTACATATTCTTTTGGGCCT	0.328000														54			29		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972152	28972152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:28972152C>T	uc002kwr.2	+	7	989	c.854C>T	c.(853-855)tCg>tTg	p.S285L	DSG4_uc002kwq.2_Missense_Mutation_p.S285L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	285	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S285L(2)		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)			TGTTTAAGTTCGGAACTGATA	0.338000														45			11		0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56485101	56485101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:56485101G>A	uc002eja.3	-	0	161	c.14C>T	c.(13-15)cCg>cTg	p.P5L	OGFOD1_uc002ejb.3_5'Flank|OGFOD1_uc002ejc.3_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	5	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						GCGATTGGGCGGTACCACAGA	0.642000														99			3		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206851	71206851	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:71206851G>T	uc001xmm.3	-	6	1598	c.1598C>A	c.(1597-1599)tCc>tAc	p.S533Y	MAP3K9_uc010ttk.2_Missense_Mutation_p.S270Y|MAP3K9_uc001xmk.3_Missense_Mutation_p.S227Y|MAP3K9_uc001xml.3_Missense_Mutation_p.S533Y	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	533				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CATGGTAGGGGAGGCCTGCAC	0.463000														32			19		2.54575e-18	2.56695e-18	1	1	0
C17orf28	283987	broad.mit.edu	37	17	72954515	72954515	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:72954515C>T	uc002jmj.4	-	10	1448	c.1299G>A	c.(1297-1299)cgG>cgA	p.R433R	C17orf28_uc010wrs.2_Silent_p.R232R	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	433						integral to membrane|plasma membrane	protein binding	p.E432K(1)		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)					CCCCGAAGTTCCGCTCCCCGC	0.637000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			8		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160171068	160171068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:160171068G>A	uc010pja.2	+	10	1350	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	365	Asp-rich.					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGACGATGAGGAGGACCTGCC	0.552000														17			9		0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586837	86586837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:86586837G>A	uc004ang.4	-	10	1137	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	HNRNPK_uc011lsw.2_Missense_Mutation_p.R65W|HNRNPK_uc004and.4_Missense_Mutation_p.R65W|HNRNPK_uc004anf.4_Missense_Mutation_p.R305W|HNRNPK_uc004anh.4_Missense_Mutation_p.R281W|HNRNPK_uc011lsx.2_Missense_Mutation_p.R281W|HNRNPK_uc004anl.4_Missense_Mutation_p.R305W|HNRNPK_uc004anm.4_Missense_Mutation_p.R305W|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	305	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GGAAGATTCCGAGCTCTGCTA	0.517000														62			25		0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99256384	99256384	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:99256384G>A	uc002sze.3	-	11	1523	c.1209C>T	c.(1207-1209)taC>taT	p.Y403Y	MGAT4A_uc010yvm.2_Silent_p.Y275Y|MGAT4A_uc010fil.3_Silent_p.Y157Y	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	403					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						TATGCCCTTGGTAGACCTTCA	0.403000														32			18		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135103366	135103366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:135103366G>A	uc010qvc.1	-	9	1763	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	TUBGCP2_uc001lmf.1_Missense_Mutation_p.S34F|TUBGCP2_uc001lmg.1_Missense_Mutation_p.S441F|TUBGCP2_uc010qvd.1_Missense_Mutation_p.S311F|TUBGCP2_uc009ybk.1_Missense_Mutation_p.S441F|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	441					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTGCAGGAAGGACGGGATCTG	0.617000														30			12		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44921560	44921560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:44921560C>T	uc001ztx.3	-	8	1793	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	SPG11_uc010ueh.2_Missense_Mutation_p.D588N|SPG11_uc010uei.2_Missense_Mutation_p.D588N|SPG11_uc001zua.1_Missense_Mutation_p.D588N	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	588					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAAAGTAAATCCAATGCTGGT	0.338000														13			17		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58258686	58258686	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:58258686G>A	uc002iyo.1	-	32	4834	c.4548_splice	c.e32+1	p.S1516_splice	USP32_uc002iyn.1_Splice_Site_p.S1186_splice	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1516					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACCACTTACCGAAATTGCATA	0.363000														64			22		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591092	87591092	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:87591092C>T	uc003ydx.3	-	17	1977	c.1929_splice	c.e17-1	p.R643_splice	CNGB3_uc010maj.3_Splice_Site_p.R500_splice	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	643					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						TAAAAGCACTCTGTGGGTAAG	0.423000														39			14		0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805659	43805660	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:43805659_43805660GG>AA	uc001ciw.3	+	4	760_761	c.715_716GG>AA	c.(715-717)gga>AAa	p.G239K	MPL_uc001civ.3_Missense_Mutation_p.G239K|MPL_uc009vwr.3_Missense_Mutation_p.G232K	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	239					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCAGAGGGTGGAAGCTGCCTC	0.579000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							57			8		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43614995	43614995	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:43614995C>T	uc001jal.3	+	13	2599	c.2409C>T	c.(2407-2409)atC>atT	p.I803I	RET_uc001jak.1_Silent_p.I803I|RET_uc010qez.1_Silent_p.I549I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	803	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCTCCTCATCGTGGAGTACG	0.706000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					5			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9080501C>T	uc002mkp.3	-	1	9734	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGGAATTTCCTTGTGCTGC	0.498000														73			26		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347510	72347510	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:72347510T>C	uc002llw.2	+	0	4588	c.4535T>C	c.(4534-4536)tTg>tCg	p.L1512S	ZNF407_uc010xfc.2_Missense_Mutation_p.L1512S|ZNF407_uc010dqu.2_Missense_Mutation_p.L1512S|ZNF407_uc002llu.2_Missense_Mutation_p.L1511S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CATGAGGAATTGCTGCGGGAG	0.453000														19			21		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89202882	89202882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:89202882C>T	uc021ryf.1	-	6	1124	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	EML5_uc021ryg.1_Missense_Mutation_p.R292Q	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	292						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGGTCACCTCGCCAACACAC	0.358000														77			45		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506751	155506751	+	Silent	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:155506751T>C	uc003iod.1	-	4	1888	c.1830A>G	c.(1828-1830)gaA>gaG	p.E610E	FGA_uc003ioe.1_Silent_p.E610E|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	610					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATGATCGGCTTCACTTCCGG	0.478000														46			37		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51611535	51611535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:51611535G>A	uc003pah.1	-	58	10258	c.9982C>T	c.(9982-9984)Cct>Tct	p.P3328S	PKHD1_uc010jzn.1_Missense_Mutation_p.P1311S|PKHD1_uc003pai.3_Missense_Mutation_p.P3328S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3328					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTAATGAAGGAAAGTAGAAC	0.333000														71			29		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132211580	132211580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:132211580C>T	uc001uja.1	+	5	1068	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	SFSWAP_uc010tbn.1_Missense_Mutation_p.L310F|SFSWAP_uc001ujb.1_Missense_Mutation_p.L103F|SFSWAP_uc001uiz.1_Missense_Mutation_p.L184F	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	310					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GTGTAACCGCCTTGAAGAGCT	0.378000														28			15		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316768	30316768	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:30316768G>A	uc009xle.2	-	2	2446	c.2309C>T	c.(2308-2310)tCc>tTc	p.S770F	KIAA1462_uc001iux.3_Missense_Mutation_p.S770F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.S632F	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	770								p.S770S(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGTCCACGGACAAGGAAGT	0.612000														27			16		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57954438	57954438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:57954438G>A	uc002emt.2	-	18	1719	c.1654C>T	c.(1654-1656)Cgt>Tgt	p.R552C	CNGB1_uc010cdh.2_Missense_Mutation_p.R546C	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	552					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGGCCGCACGGTCCTGGCCA	0.622000														32			16		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084653	53084653	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:53084653C>T	uc003xqz.2	-	4	924	c.768G>A	c.(766-768)agG>agA	p.R256R	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.R221R|ST18_uc011lds.1_Silent_p.R161R|ST18_uc003xra.2_Silent_p.R256R|ST18_uc003xrb.2_Silent_p.R256R	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	256						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCGGGTCTTTCCTTTCTGTTT	0.453000														89			25		0	0	1	0	0
SASS6	163786	broad.mit.edu	37	1	100588017	100588017	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:100588017A>T	uc001dsu.3	-	3	371	c.230T>A	c.(229-231)cTg>cAg	p.L77Q	SASS6_uc009wdz.3_5'UTR	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	77	PISA.				centriole replication	centriole				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GAAGTCTACCAGAAGACCTTG	0.303000														19			23		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30973872	30973872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:30973872C>T	uc003xio.4	+	19	3064	c.2276C>T	c.(2275-2277)tCc>tTc	p.S759F	WRN_uc010lvk.3_Missense_Mutation_p.S226F	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	759	Helicase C-terminal.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTCTTTAGTTCCCACTGGGAA	0.348000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					29			11		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149228	34149229	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:34149228_34149229CC>TT	uc004ddg.3	-	0	1219_1220	c.1167_1168GG>AA	c.(1165-1170)ccggag>ccAAag	p.E390K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	390										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGGGCTGAGAT	0.619000														13			29		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73001643	73001643	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:73001643C>T	uc003pga.3	+	25	3821	c.3744C>T	c.(3742-3744)caC>caT	p.H1248H	RIMS1_uc011dyb.2_Silent_p.H645H|RIMS1_uc003pgc.3_Silent_p.H697H|RIMS1_uc010kaq.3_Silent_p.H568H|RIMS1_uc011dyc.2_Silent_p.H545H|RIMS1_uc010kar.3_Silent_p.H488H|RIMS1_uc011dyd.2_Silent_p.H554H|RIMS1_uc003pge.3_Silent_p.H288H|RIMS1_uc003pgf.3_Silent_p.H257H|RIMS1_uc003pgi.3_Silent_p.H236H|RIMS1_uc003pgg.3_Silent_p.H316H|RIMS1_uc003pgh.3_Silent_p.H287H|RIMS1_uc003pgd.3_Silent_p.H314H|RIMS1_uc011dye.2_Silent_p.H44H|RIMS1_uc011dyf.2_Silent_p.H44H	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1248					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAGAATGCACCGACAGAGAA	0.468000														7			6		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1041920	1041920	+	Missense_Mutation	SNP	C	T	T	rs141121079		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:1041920C>T	uc001ift.3	+	2	342	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	GTPBP4_uc010qac.1_Intron|GTPBP4_uc010qad.2_Intron|GTPBP4_uc010qae.2_Missense_Mutation_p.H44Y	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	91					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.H91Y(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGACAAGGATCATTACAAGTT	0.378000														29			25		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713599	218713599	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:218713599G>A	uc002vgt.2	-	16	1664	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V	TNS1_uc002vgr.2_Silent_p.V422V|TNS1_uc002vgs.2_Silent_p.V422V|TNS1_uc010zjv.1_Silent_p.V422V|TNS1_uc010fvj.1_Silent_p.V490V|TNS1_uc010fvk.1_Silent_p.V547V|TNS1_uc010fvi.1_Silent_p.V109V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	422						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCCCCGGGGACAGGCTCGT	0.642000														41			27		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21229480	21229480	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:21229480G>A	uc010sil.2	+	14	2090	c.2025G>A	c.(2023-2025)agG>agA	p.R675R	SLCO1B3_uc010sim.2_Silent_p.R614R|SLCO1B3_uc010sin.2_Silent_p.R567R			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	638					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGGCTTGTAGGATATATAATT	0.348000														87			58		0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80144078	80144078	+	Silent	SNP	C	T	T	rs140008129		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:80144078C>T	uc004aku.3	-	1	739	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_004297	NP_004288	O95837	GNA14_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA.	72					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.T72M(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AAACCAGCTTCGTGAACCCCT	0.448000														177			95		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309078	21309078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:21309078G>A	uc001iqk.3	-	2	571	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	NEBL_uc021pnu.1_Missense_Mutation_p.R73C	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	737					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTCAGGCGAAGATTTTCA	0.413000														46			24		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4247761	4247761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:4247761G>A	uc003smx.3	+	36	5384	c.5245G>A	c.(5245-5247)Gaa>Aaa	p.E1749K	SDK1_uc010kso.3_Missense_Mutation_p.E1005K|SDK1_uc003smy.3_Missense_Mutation_p.E236K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1749	Fibronectin type-III 11.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCCAGAACGAAACGGAGAA	0.552000														65			25		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38541528	38541528	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:38541528G>A	uc003auy.1	-	2	478	c.342C>T	c.(340-342)atC>atT	p.I114I	PLA2G6_uc003auz.1_Silent_p.I114I|PLA2G6_uc003ava.1_Silent_p.I114I|PLA2G6_uc003avb.2_Silent_p.I114I|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Silent_p.I114I	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	114					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGTGGTTACGGATGAGGTCGG	0.567000														16			11		0	0	1	0	0
PNPO	55163	broad.mit.edu	37	17	46022934	46022934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:46022934C>T	uc002imo.3	+	3	526	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	PNPO_uc010wkz.2_Intron|PNPO_uc010wla.2_Missense_Mutation_p.P30S|PNPO_uc010wlb.2_Missense_Mutation_p.P125S	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN	Homo sapiens pyridoxamine 5'-phosphate oxidase (PNPO), mRNA.	125					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GGACTCTAATCCCTTTGCTTC	0.557000														100			31		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609900	142609900	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142609900G>A	uc003wby.1	-	12	1800	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	512					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.F512L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTCTGTCTGGAAAATGATAT	0.463000														52			23		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042727	74042727	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:74042727C>T	uc002sjr.1	+	2	1498	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	459										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTTCAGTTCCTTACAAGATC	0.448000														24			19		0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598497	68598497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:68598497C>T	uc010cff.3	+	4	2099	c.1807C>T	c.(1807-1809)Cat>Tat	p.H603Y	ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.H603Y|ZFP90_uc002ewe.3_Missense_Mutation_p.H603Y	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	603					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H603H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TCAGAGAATTCATACTGGAGA	0.398000														76			50		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723273	58723273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:58723273G>A	uc001nnh.2	+	6	825	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	GLYATL1_uc001nnf.3_Missense_Mutation_p.E228K|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.E228K|GLYATL1_uc001nnj.2_Missense_Mutation_p.E228K	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	228						mitochondrion	glycine N-acyltransferase activity	p.E259K(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCCTTCTTGTGAAGTAGGAAT	0.512000														25			9		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904272	55904272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:55904272G>A	uc010riz.2	-	0	923	c.923C>T	c.(922-924)cCa>cTa	p.P308L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGAGTAACATGGATTTTCCAT	0.313000														52			17		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31609544	31609544	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:31609544G>A	uc002wyj.3	+	14	1468	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	425						extracellular region	lipid binding										TTGGCCATGGGAATTGCCCTC	0.577000														58			60		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26291180	26291180	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:26291180A>T	uc003abz.1	+	27	4851	c.4601A>T	c.(4600-4602)aAg>aTg	p.K1534M	MYO18B_uc003aca.1_Missense_Mutation_p.K1415M|MYO18B_uc010guy.1_Missense_Mutation_p.K1416M|MYO18B_uc010guz.1_Missense_Mutation_p.K1414M|MYO18B_uc011aka.1_Missense_Mutation_p.K688M|MYO18B_uc011akb.1_Missense_Mutation_p.K1047M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1534	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.L1533H(1)		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						TTCCTCAGAAAGCGTCTGCAG	0.542000														7			9		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835492	38835492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:38835492G>A	uc003ciq.3	-	0	10	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	4					sensory perception	voltage-gated sodium channel complex		p.P4P(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATCCAATGGGGAATTCCATC	0.473000														49			49		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392722	1392722	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:1392722G>A	uc002clk.2	+	12	1331	c.1173G>A	c.(1171-1173)agG>agA	p.R391R	BAIAP3_uc010uuz.2_Silent_p.R356R|BAIAP3_uc010uva.2_Silent_p.R328R|BAIAP3_uc021tag.1_Silent_p.R333R|BAIAP3_uc002clj.3_Silent_p.R373R|BAIAP3_uc010uvc.1_Silent_p.R320R	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	391					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CGTTGCAGAGGGATACGGCCA	0.667000														18			7		0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23612379	23612379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:23612379G>A	uc002kvm.3	-	9	1292	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L	SS18_uc002kvn.3_Missense_Mutation_p.P374L|SS18_uc010xbf.2_Missense_Mutation_p.P323L|SS18_uc010xbg.2_Missense_Mutation_p.P322L|SS18_uc010xbh.2_Missense_Mutation_p.P322L|SS18_uc010xbi.2_Missense_Mutation_p.P382L	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	405	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ATATCCATAAGGCCTCTGCTG	0.458000			T	"""SSX1,  SSX2"""	synovial sarcoma									79			43		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	659046	659046	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:659046C>T	uc003gap.3	+	18	2249	c.2196C>T	c.(2194-2196)gtC>gtT	p.V732V	PDE6B_uc003gao.4_Silent_p.V732V|PDE6B_uc011buy.2_Silent_p.V453V|PDE6B_uc011buz.2_Silent_p.V164V	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	732					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCTCCAGGTCGCACTTCTCG	0.632000														30			16		0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7645637	7645637	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:7645637C>T	uc003srf.3	+	11	2774	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N	MIOS_uc003srg.3_Silent_p.N357N|MIOS_uc010ktq.3_Silent_p.N217N	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	822								p.N822N(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTTAACAACTGGTTTACAT	0.378000														66			31		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10435015	10435015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10435015C>T	uc010coi.3	-	21	2760	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E878K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	878					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E878G(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						TCTTCCAGTTCCTTCCTTTTT	0.423000														59			24		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212286822	212286822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:212286822C>T	uc002veg.1	-	23	2972	c.2874G>A	c.(2872-2874)atG>atA	p.M958I	ERBB4_uc002veh.1_Missense_Mutation_p.M958I|ERBB4_uc010zji.1_Missense_Mutation_p.M948I|ERBB4_uc010zjj.1_Missense_Mutation_p.M948I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	958	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGCATCAATCATCCAACCTG	0.353000										TSP Lung(8;0.080)				36			11		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993339	140993339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chrX:140993339C>T	uc004fbt.3	+	3	473	c.149C>T	c.(148-150)cCt>cTt	p.P50L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	50							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTGTATCCTCTCCAGAGT	0.587000										HNSCC(15;0.026)				15			41		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:57354177G>A	uc003xsz.2	-	1	539	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_uc003xta.3_Missense_Mutation_p.S153F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527000														94			30		0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48092454	48092454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:48092454G>A	uc003toh.4	+	6	975	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	C7orf57_uc003toi.4_Missense_Mutation_p.E113K	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	255										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						ACGAGACCTGGAAGGTCCCCA	0.577000														23			16		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459672	142459672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142459672G>A	uc003wak.2	+	2	265	c.248G>A	c.(247-249)gGg>gAg	p.G83E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.G23E	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	83	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTCCTGGAGGGGAATGAGCAG	0.542000														156			59		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503762	140503762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:140503762G>A	uc003lip.1	+	0	2182	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	728					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGCCCGAGGGCCCCTT	0.667000														151			68		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044791	119044791	+	Silent	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:119044791A>G	uc001lde.1	-	4	1652	c.1453T>C	c.(1453-1455)Ttg>Ctg	p.L485L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	485					intracellular signal transduction		metal ion binding	p.G484W(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTACTGTCAACCCGGCAGCT	0.428000														94			48		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372583	95372583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:95372583G>A	uc001kiu.4	+	0	239	c.101G>A	c.(100-102)gGa>gAa	p.G34E		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	34					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)				GAGGTGCTGGGAGAAATCTTC	0.552000														76			43		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291225	62291225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:62291225G>A	uc001ntl.3	-	4	10964	c.10664C>T	c.(10663-10665)cCc>cTc	p.P3555L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3555					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTCACCTTGGGGCCTTTCAA	0.468000														180			67		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219612	134219612	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:134219612G>A	uc001lll.4	+	1	1637	c.1608G>A	c.(1606-1608)acG>acA	p.T536T	PWWP2B_uc009ybe.3_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	536	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CTCCGACTACGTCGTTCTTGT	0.498000														50			6		0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931915	176931915	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:176931915C>T	uc003mhk.3	-	5	646	c.641_splice	c.e5-1	p.V214_splice	DOK3_uc003mhh.4_Splice_Site_p.V44_splice|DOK3_uc003mhi.4_Splice_Site_p.V158_splice|DOK3_uc003mhj.4_Splice_Site_p.V56_splice	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	214	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAAACTCGCCCACTGTGGCAG	0.672000														31			12		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939081	2939081	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:2939081G>A	uc001ajz.3	+	0	1036	c.831G>A	c.(829-831)tcG>tcA	p.S277S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	277						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCGGGCTCTCGAATATGGTCT	0.642000														28			40		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7716939	7716939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:7716939C>T	uc003gkb.4	+	16	2153	c.2153C>T	c.(2152-2154)tCa>tTa	p.S718L	SORCS2_uc011bwi.2_Missense_Mutation_p.S546L	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	718						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCTCCTCCTCAGAGTCCAGC	0.602000														86			87		0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099346	4099346	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:4099346C>T	uc003mwa.4	+	2	966	c.198C>T	c.(196-198)atC>atT	p.I66I	C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Silent_p.I66I|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	66										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAAGAAAAATCATCAACAATG	0.418000														66			52		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490274	150490274	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150490274C>G	uc022apx.1	-	3	628	c.502G>C	c.(502-504)Gac>Cac	p.D168H	TMEM176B_uc003whu.4_Missense_Mutation_p.D168H|TMEM176B_uc003whv.4_Missense_Mutation_p.D131H|TMEM176B_uc003whw.4_Missense_Mutation_p.D168H	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	168					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACAGGGTCTGAGCGATCA	0.502000														46			31		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242142881	242142881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:242142881G>A	uc002wax.2	+	8	1122	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	340						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGGTACTTCGGGGAGAAGGTG	0.647000														8			3		0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052751	33052751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33052751C>T	uc003ocu.2	+	2	505	c.389C>T	c.(388-390)cCc>cTc	p.P130L	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Missense_Mutation_p.P26L	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	130	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						AATGTTTCCCCCTCCAAGAAG	0.493000														99			72		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78516487	78516487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:78516487C>T	uc001ozl.4	-	14	2492	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	677	EGF-like 4.				signal transduction	integral to membrane		p.G676G(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CAGTGGCATTCGCCTCTCACG	0.592000														9			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999054	20999054	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:20999054C>T	uc010vbe.2	-	45	6843	c.6843G>A	c.(6841-6843)gtG>gtA	p.V2281V	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2281	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCCTTGAATCACTCGTGAGA	0.463000														50			18		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655948	40655948	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:40655948G>A	uc002rrx.3	-	0	1497	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	SLC8A1_uc002rry.3_Silent_p.F491F|SLC8A1_uc002rsb.2_Silent_p.F491F|SLC8A1_uc002rrz.3_Silent_p.F491F|SLC8A1_uc002rsa.3_Silent_p.F491F|SLC8A1_uc002rsd.4_Silent_p.F491F|SLC8A1_uc010fan.1_Silent_p.F491F|SLC8A1_uc002rsc.1_Silent_p.F491F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	491	Calx-beta 1.				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)	GATGCACAAGGAAATTTTCAT	0.418000														26			8		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252919	124252919	+	Silent	SNP	G	A	A	rs2320234	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:124252919G>A	uc010sai.2	-	0	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(2)|p.F106L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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)		CAGAGATGACGAAAAAGAGAA	0.398000														17			45		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52964490	52964490	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:52964490T>C	uc001sap.1	-	4	1019	c.971A>G	c.(970-972)aAg>aGg	p.K324R		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	324	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGCCTTGCTCTTCAGGGCGAT	0.602000														38			29		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687656	5687656	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:5687656G>A	uc001qnm.2	-	21	2334	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	759						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.F754F(1)|p.F755F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGAGGCCACGAAGAGGGTGA	0.552000														14			11		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244587	134244587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:134244587C>T	uc001qhp.3	+	17	1987	c.1799C>T	c.(1798-1800)cCc>cTc	p.P600L	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	600					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCCAGGTCCCTGGTTGAGC	0.592000														43			95		0	0	1	0	0
FOXH1	8928	broad.mit.edu	37	8	145700198	145700198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:145700198C>T	uc003zdc.3	-	2	1100	c.521G>A	c.(520-522)gGa>gAa	p.G174E		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	174					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCCGGACCCTCCTAGCAGGGA	0.711000														15			17		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921836	24921836	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:24921836G>A	uc001ywo.3	+	0	1296	c.822G>A	c.(820-822)caG>caA	p.Q274Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	274					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGCTGCAGCAGAAGTTGGCTG	0.617000														36			21		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54841844	54841844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr15:54841844G>A	uc021smr.1	+	25	5826	c.5826G>A	c.(5824-5826)atG>atA	p.M1942I	UNC13C_uc021sms.1_Missense_Mutation_p.M1944I	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1944	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACCCCAGATGATTTTCATTG	0.318000														45			28		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150488694	150488694	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:150488694C>T	uc022apx.1	-	5	864	c.738G>A	c.(736-738)gaG>gaA	p.E246E	TMEM176B_uc003whu.4_Silent_p.E246E|TMEM176B_uc003whv.4_Silent_p.E209E|TMEM176B_uc003whw.4_Silent_p.E246E	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	246					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTAGCCTCTTCTCTGATCCTT	0.502000														20			14		0	0	1	0	0
ALG14	199857	broad.mit.edu	37	1	95538398	95538398	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:95538398G>A	uc001dra.2	-	0	110	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	19					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		ATATTCGCAGGATTAGGAAAA	0.587000														95			29		0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58313613	58313613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:58313613C>T	uc002ene.3	+	8	1145	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	CCDC113_uc010vid.2_Missense_Mutation_p.R302C	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	356						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AAAAGGCCATCGTAAGGCTTG	0.428000														16			9		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293945	29293946	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:29293945_29293946GG>AA	uc002rmt.2	-	0	3182_3183	c.3182_3183CC>TT	c.(3181-3183)ccc>cTT	p.P1061L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1061	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment		p.P1060P(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTGCACTCTCGGGGGGAGGGTT	0.668000														47			42		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045721	142045721	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:142045721C>T	uc003vxp.4	+	1	358	c.249C>T	c.(247-249)ttC>ttT	p.F83F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGTCGCTTCTCACCTGAAT	0.483000														187			47		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133747523	133747523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:133747523C>T	uc004bzw.3	+	4	833	c.830C>T	c.(829-831)aCc>aTc	p.T277I	ABL1_uc004bzv.3_Missense_Mutation_p.T296I	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	277	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.D276G(11)|p.T277A(4)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CAGGAGGACACCATGGAGGTG	0.458000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									30			15		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349108	100349108	+	Missense_Mutation	SNP	C	T	T	rs72552718		TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:100349108C>T	uc003huv.2	-	4	663	c.422G>A	c.(421-423)aGa>aAa	p.R141K	ADH7_uc021xqj.1_Missense_Mutation_p.R149K	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	141					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GCATGTAAATCTGGTGGTGCC	0.383000														69			43		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43110413	43110413	+	Missense_Mutation	SNP	C	T	T	rs141315303	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:43110413C>T	uc009vwk.1	+	12	1935	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	CCDC30_uc001chm.2_Missense_Mutation_p.R307C|CCDC30_uc001chn.2_Missense_Mutation_p.R398C	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	609								p.R609H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATAGTCTTCGTCTCACACA	0.388000														42			39		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61306490	61306490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:61306490C>T	uc002ljf.3	-	6	783	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SERPINB3_uc002lje.3_Missense_Mutation_p.E212K|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	233					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.E233K(1)|p.L232_Y236>H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TATGGTATTTCCAGGACCTTG	0.398000														38			25		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100076902	100076902	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:100076902C>T	uc011lut.2	+	20	2146	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	C9orf174_uc004axe.2_Silent_p.A380A|C9orf174_uc011lus.2_Silent_p.A198A|C9orf174_uc004axg.2_Silent_p.A241A|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Silent_p.A241A|C9orf174_uc011luv.1_Silent_p.A238A	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	380						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						CTGCGTAGGCCCTGCTGGAGC	0.632000														27			12		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22447209	22447209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:22447209C>T	uc010tmm.2	+	1	382	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	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_uc021rpl.1_Intron|TCRA_uc010tmo.2_Non-coding_Transcript					Homo sapiens mRNA for unknown variable region, clone: SEB 74.																		CCAAGGACTCCAGCTTCTCCT	0.463000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			43		0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490925	73490925	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr14:73490925T>A	uc001xnm.3	-	1	1013	c.292A>T	c.(292-294)Aac>Tac	p.N98Y	ZFYVE1_uc010arj.3_Missense_Mutation_p.N98Y	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	98						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGGCACAAGTTAATTTTGCAG	0.507000														157			97		0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220439993	220439993	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:220439993C>T	uc002vmk.2	+	1	989	c.846C>T	c.(844-846)taC>taT	p.Y282Y		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	282					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGATCGTGTACCCTCCCAGTT	0.612000														58			23		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137697031	137697031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:137697031G>A	uc004cfe.3	+	40	3611	c.3229G>A	c.(3229-3231)Gaa>Aaa	p.E1077K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1077	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAAAGGCAATGAAGGGCCCCC	0.587000														44			24		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514396	99514396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:99514396G>A	uc003dti.1	+	2	1782	c.1654G>A	c.(1654-1656)Ggt>Agt	p.G552S	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G551S|COL8A1_uc003dth.1_Missense_Mutation_p.G551S	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	551	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGTGCCCTTGGTCCTCAAGG	0.682000														5			9		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009482	201009482	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:201009482G>A	uc001gvv.3	-	42	5474	c.5247C>T	c.(5245-5247)tcC>tcT	p.S1749S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1749					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCAGGCATGGAGGACTCCA	0.562000														23			6		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764918	92764918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:92764918G>A	uc003umh.1	-	4	1583	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	SAMD9L_uc003umj.1_Missense_Mutation_p.P123S|SAMD9L_uc003umi.1_Missense_Mutation_p.P123S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P123S|SAMD9L_uc003umk.1_Missense_Mutation_p.P123S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P123S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P123S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P123S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	123										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCTCTCTGGGATCATAATCA	0.313000														31			8		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992340	72992340	+	Missense_Mutation	SNP	G	A	A	rs148894513	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:72992340G>A	uc002fck.3	-	1	2378	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	569					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGCTTAAACGATTCCTCCTG	0.517000														49			34		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091189	32091189	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:32091189C>T	uc003tcm.2	-	1	566	c.105G>A	c.(103-105)agG>agA	p.R35R	PDE1C_uc003tcn.1_Silent_p.R35R|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.R35R|PDE1C_uc003tcs.3_Silent_p.R35R	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	35					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTTATATTTCCTCCTGTAAG	0.468000														22			10		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745577	32745577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:32745577G>A	uc001bux.3	+	10	1315	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	LCK_uc001buy.3_Missense_Mutation_p.E393K|LCK_uc001buz.3_Missense_Mutation_p.E423K|LCK_uc010ohc.1_Missense_Mutation_p.E437K|LCK_uc001bva.3_Missense_Mutation_p.E400K	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	393	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TGAGGACAACGAGTACACAGC	0.557000			T	TRB@	T-ALL									28			41		0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122676082	122676082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:122676082G>A	uc009zxm.3	+	5	1082	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LRRC43_uc001ubw.4_Missense_Mutation_p.E168K|LRRC43_uc009zxn.3_Missense_Mutation_p.E114K	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	353	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGAAGAAGGCGAAATGAATGA	0.552000											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			34		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28963961	28963961	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr13:28963961G>A	uc001usb.3	-	12	2226	c.1941C>T	c.(1939-1941)atC>atT	p.I647I	FLT1_uc010aar.1_Silent_p.I647I|FLT1_uc001usc.3_Silent_p.I647I|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Silent_p.I130I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	647	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCTTCTGGAGGATTTCTTCCC	0.423000														119			34		0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153391697	153391697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153391697C>T	uc001fbt.1	+	2	275	c.218C>T	c.(217-219)tCt>tTt	p.S73F		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	73	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTGATTTTTCTGAGTTTCTG	0.483000														34			35		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136578247	136578247	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:136578247C>T	uc004cep.4	-	9	1285	c.1151_splice	c.e9-1	p.E384_splice	SARDH_uc004ceo.3_Splice_Site_p.E384_splice|SARDH_uc011mdo.2_Splice_Site_p.E216_splice|SARDH_uc011mdn.2_Splice_Site_p.E384_splice	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	384					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTGAAGGATTCTGAAAGAAGG	0.602000														8			6		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176927615	176927615	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:176927615G>A	uc001glc.3	-	9	1814	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	ASTN1_uc001glb.1_Silent_p.F534F|ASTN1_uc001gld.1_Silent_p.F534F|ASTN1_uc009wwx.1_Silent_p.F534F	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	542					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGTGTAGGTGAATCTGCAGG	0.552000														7			12		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35792540	35792540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:35792540C>T	uc003jjo.3	+	30	4657	c.4546C>T	c.(4546-4548)Caa>Taa	p.Q1516*	SPEF2_uc003jjp.1_Nonsense_Mutation_p.Q1002*|SPEF2_uc003jjr.3_Nonsense_Mutation_p.Q571*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1516					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)			GCACCTTACCCAACCTGAAGT	0.353000														121			26		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507777	155507777	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:155507777C>T	uc003iod.1	-	4	862	c.804G>A	c.(802-804)gaG>gaA	p.E268E	FGA_uc003ioe.1_Silent_p.E268E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	268					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTCGAGTAATCTCATTTCCAC	0.522000														55			63		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217608	183217608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:183217608G>A	uc003flr.3	-	3	975	c.917C>T	c.(916-918)tCg>tTg	p.S306L	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	306								p.S306L(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGTGCGTTCCGAAATGATCTG	0.527000														17			21		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128176241	128176241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:128176241C>T	uc011ebt.2	-	1	333	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	THEMIS_uc010kfa.3_5'UTR|THEMIS_uc021zfa.1_Missense_Mutation_p.E62K|THEMIS_uc010kfb.3_Missense_Mutation_p.E27K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	62	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCACAAATTTCAGCTATGATC	0.358000														5			26		0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28119464	28119464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:28119464G>A	uc001msc.2	-	1	213	c.31C>T	c.(31-33)Cat>Tat	p.H11Y	KIF18A_uc001msd.3_Missense_Mutation_p.H11Y	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	11	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACTTTCATATGGTGGCACAGG	0.338000														109			35		0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32959914	32959914	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:32959914C>T	uc002hif.3	+	6	1732	c.1404C>T	c.(1402-1404)atC>atT	p.I468I		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	468						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GGGTACCTATCCTCCCCGACC	0.582000														129			41		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106907399	106907399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr10:106907399G>A	uc001kyi.1	+	8	1554	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	443						integral to membrane	neuropeptide receptor activity	p.E443G(1)|p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTACAGACGAGAACCAAGT	0.473000														40			13		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13716600	13716600	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13716600A>G	uc003jfd.2	-	73	12947	c.12905T>C	c.(12904-12906)aTc>aCc	p.I4302T	DNAH5_uc003jfc.2_Missense_Mutation_p.I470T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4302					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)					ACAAACCTGGATATACTGAAG	0.333000									Kartagener syndrome					37			12		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978750	41978750	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:41978750G>A	uc001cgz.4	-	7	7355	c.6142C>T	c.(6142-6144)Cga>Tga	p.R2048*	HIVEP3_uc001cha.4_Nonsense_Mutation_p.R2048*|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.	2048					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)				ACATGTGCTCGAGGGGCCAGT	0.637000														51			17		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063416	170063416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:170063416G>A	uc002ues.3	-	38	7027	c.6814C>T	c.(6814-6816)Cgt>Tgt	p.R2272C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2272					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	p.R2272C(2)		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)	CTGCCATAACGAATCACTTCA	0.393000														50			36		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435808	50435808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:50435808C>T	uc010enq.2	+	3	890	c.308C>T	c.(307-309)tCc>tTc	p.S103F	IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Missense_Mutation_p.S103F|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	103					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCTATGGCCTCCCTCCTCAAG	0.627000														36			18		0	0	1	0	0
UBA52	7311	broad.mit.edu	37	19	18685735	18685735	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:18685735C>T	uc002njr.3	+	3	360	c.246C>T	c.(244-246)ctC>ctT	p.L82L	UBA52_uc002njs.3_Silent_p.L82L|UBA52_uc021uqs.1_5'Flank	NM_001033930	NP_003324	P62987	RL40_HUMAN	Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.	82					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						AGCCTTCTCTCCGCCAGCTTG	0.617000														33			12		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	40998729	40998729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:40998729C>T	uc003jmj.4	-	40	5126	c.4636G>A	c.(4636-4638)Gaa>Aaa	p.E1546K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E1101K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1546							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTCAGTTGTTCTCTGTCTAGT	0.393000														3			6		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815664	106815664	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:106815664G>A	uc003ymd.3	+	7	3377	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	ZFPM2_uc011lhs.2_Silent_p.G849G	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	1118					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCAGTGGGAAATATTGCC	0.428000														17			17		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565570	24565570	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:24565570T>G	uc002wtw.1	+	2	1192	c.559T>G	c.(559-561)Ttc>Gtc	p.F187V		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	187					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTCAGTGTCTTCTCCATGCT	0.577000														95			35		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906414	42906414	+	Silent	SNP	G	A	A	rs138793399	byFrequency	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:42906414G>A	uc003cme.3	+	2	598	c.420G>A	c.(418-420)ctG>ctA	p.L140L	CCBP2_uc003cmf.3_Silent_p.L140L|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.L140L	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	140					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GCATGAGCCTGGACAAGTACC	0.512000														120			26		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121445791	121445791	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:121445791A>G	uc010hrc.3	-	4	626	c.500T>C	c.(499-501)cTt>cCt	p.L167P	GOLGB1_uc003eei.4_Missense_Mutation_p.L167P|GOLGB1_uc003eej.4_Missense_Mutation_p.L128P|GOLGB1_uc021xcy.1_Missense_Mutation_p.L128P|GOLGB1_uc011bjm.1_Missense_Mutation_p.L128P|GOLGB1_uc010hrd.1_Missense_Mutation_p.L167P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	167					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q166H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCCTGAGTAAGCTGGGCTTG	0.413000														65			30		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135678	156135678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:156135678C>T	uc003ioq.3	+	1	1076	c.587C>T	c.(586-588)cCg>cTg	p.P196L	NPY2R_uc003ior.3_Missense_Mutation_p.P196L|NPY2R_uc021xtm.1_Missense_Mutation_p.P196L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	196					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAGATCATCCCGGACTTTGAG	0.507000														70			76		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41007838	41007838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:41007838G>A	uc002ony.3	+	7	881	c.795G>A	c.(793-795)atG>atA	p.M265I	SPTBN4_uc002onx.3_Missense_Mutation_p.M265I|SPTBN4_uc002onz.3_Missense_Mutation_p.M265I	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	265	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGTGAACATGGAGGCTCCAG	0.512000														113			51		0	0	1	0	0
WDR91	29062	broad.mit.edu	37	7	134890723	134890723	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:134890723G>T	uc003vsp.2	-	4	744	c.682C>A	c.(682-684)Cct>Act	p.P228T	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_5'UTR	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	228								p.L227F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACATAAGGAGGCAATTTGTGT	0.527000														91			39		1.06522e-23	1.07708e-23	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14763875	14763875	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr18:14763875G>A	uc010dlo.2	+	6	1191	c.1011G>A	c.(1009-1011)agG>agA	p.R337R	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.R337R	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	337										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACACCTAGGAAAATTTTGA	0.418000														4			7		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910619	139910619	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:139910619G>A	uc004ckm.1	-	21	3249	c.3199C>T	c.(3199-3201)Ctg>Ttg	p.L1067L	ABCA2_uc022bpy.1_Silent_p.L968L|ABCA2_uc022bpz.1_Silent_p.L1038L|ABCA2_uc011mem.1_Silent_p.L1037L|ABCA2_uc004ckl.1_Silent_p.L968L|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1037	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGGCCGGTCAGGATGGACCTG	0.657000														39			29		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811895	13811895	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:13811895A>T	uc003jfd.2	-	43	7310	c.7268T>A	c.(7267-7269)aTt>aAt	p.I2423N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2423	AAA 2 (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)					CTGACGAAGAATTTCTGCTTC	0.423000									Kartagener syndrome					57			29		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62676102	62676102	+	Silent	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:62676102C>A	uc021ooc.1	+	4	2091	c.1656C>A	c.(1654-1656)acC>acA	p.T552T	L1TD1_uc001dae.4_Silent_p.T552T	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	552										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CCTGTCTGACCTTATGTTTGG	0.453000														41			52		2.41709e-19	2.43891e-19	1	1	0
PSG4	5672	broad.mit.edu	37	19	43699285	43699285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43699285G>A	uc002ovy.3	-	3	952	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P191S	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	284	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTTACCCTGGGACTGACAGGG	0.458000														162			95		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377447	113377447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:113377447G>A	uc003eam.3	-	6	3493	c.3082C>T	c.(3082-3084)Cat>Tat	p.H1028Y	KIAA2018_uc003eal.3_Missense_Mutation_p.H972Y	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1028					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGTCAGGATGATCCATCTGA	0.353000														83			34		0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130471740	130471740	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:130471740G>A	uc004brn.1	+	1	241	c.201G>A	c.(199-201)aaG>aaA	p.K67K	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	67										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGCAGGAGAAGATGTTCCGCC	0.607000														9			16		0	0	1	0	0
ATG4B	23192	broad.mit.edu	37	2	242606102	242606102	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:242606102C>A	uc002wbv.3	+	7	684	c.581C>A	c.(580-582)gCg>gAg	p.A194E	ATG4B_uc002wbu.3_Missense_Mutation_p.A120E|ATG4B_uc002wbw.3_Missense_Mutation_p.A194E|ATG4B_uc010zox.2_Missense_Mutation_p.A180E|ATG4B_uc010zoy.2_Missense_Mutation_p.A120E|ATG4B_uc010fzp.3_Missense_Mutation_p.A194E|ATG4B_uc010zoz.2_Missense_Mutation_p.A120E|ATG4B_uc002wby.3_5'Flank	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	194					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GGCGCCACTGCGTTTCCTGCA	0.582000														6			10		0.010729	0.0107587	1	1	0
MCAT	27349	broad.mit.edu	37	22	43533179	43533179	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr22:43533179C>A	uc003bdl.1	-	2	686	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	MCAT_uc003bdm.1_Intron	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TTGCAGTGTTCCCGGGCTTCC	0.537000											OREG0026613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			65		2.54232e-27	2.57241e-27	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70993661	70993661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:70993661G>A	uc002ezr.3	-	38	6179	c.6028C>T	c.(6028-6030)Cca>Tca	p.P2010S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2011										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTGCTCACTGGGTTGTTTTCC	0.498000														22			4		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43530502	43530502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:43530502G>A	uc002ovm.1	-	0	130	c.23C>T	c.(22-24)cCc>cTc	p.P8L	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P8L|PSG11_uc002ovo.1_Missense_Mutation_p.P8L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	8					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CTCTGTGCAGGGAGGGGCTGA	0.587000														114			23		0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43896032	43896032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:43896032C>T	uc002zbg.3	-	7	958	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	Homo sapiens radial spoke head 1 homolog (Chlamydomonas) (RSPH1), mRNA.	285					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TAGCGGAACTCCTCCTGGTCA	0.622000														50			26		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38995000	38995000	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:38995000G>A	uc002oit.3	+	50	8197	c.8067_splice	c.e50+1	p.K2689_splice	RYR1_uc002oiu.3_Splice_Site_p.K2689_splice|RYR1_uc002oiv.1_Splice_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2689	6 X approximate repeats.				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)	TGGCCCATAAGGTCTGGGCAG	0.582000														23			10		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009853	8009853	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:8009853G>A	uc003gko.3	-	14	1592	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	ABLIM2_uc003gkk.3_Silent_p.S147S|ABLIM2_uc003gkl.3_Silent_p.S211S|ABLIM2_uc003gkm.4_Silent_p.S431S|ABLIM2_uc003gkp.3_Silent_p.S442S|ABLIM2_uc003gkq.3_Silent_p.S483S|ABLIM2_uc003gkr.3_Silent_p.S432S|ABLIM2_uc003gkj.4_Silent_p.S517S|ABLIM2_uc003gks.3_Silent_p.S443S	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	483					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGTGGGACAAGGACTGGGTGT	0.537000														70			60		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587418	42587418	+	Missense_Mutation	SNP	G	A	A	rs144578245	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:42587418G>A	uc003xpi.1	+	4	1096	c.968G>A	c.(967-969)aGa>aAa	p.R323K		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	323					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTTCACCACAGATCTTCTTCC	0.448000														100			98		0	0	1	0	0
S100A2	6273	broad.mit.edu	37	1	153534067	153534067	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:153534067C>T	uc001fcb.3	-	3	480	c.142_splice	c.e3-1	p.E48_splice		NM_005978	NP_005969	P29034	S10A2_HUMAN	Homo sapiens S100 calcium binding protein A2 (S100A2), mRNA.	49	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACTTTCTCCTGAAAGTGA	0.547000														203			69		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187768	121187768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:121187768C>T	uc003kss.3	+	0	119	c.110C>T	c.(109-111)cCc>cTc	p.P37L		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	37					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGGCGCCCCTTGGACCCC	0.776000														3			7		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23810627	23810627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:23810627C>T	uc003sws.4	+	13	1784	c.1717C>T	c.(1717-1719)Caa>Taa	p.Q573*	STK31_uc003swt.4_Nonsense_Mutation_p.Q550*|STK31_uc011jze.2_Nonsense_Mutation_p.Q573*|STK31_uc010kuq.3_Nonsense_Mutation_p.Q550*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	573							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CATTTAGGATCAAGGTGATGC	0.338000														58			21		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33632946	33632946	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:33632946C>T	uc021ywr.1	+	12	1589	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	455					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGCCAGTGCCGTGGAGAAAC	0.597000														202			5		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109544854	109544854	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:109544854G>A	uc001dwl.3	-	6	1825	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F	WDR47_uc001dwi.3_Silent_p.F476F|WDR47_uc001dwj.3_Silent_p.F475F|WDR47_uc001dwk.2_Silent_p.F447F|WDR47_uc010ovf.2_Silent_p.F402F	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	475										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ACCTATTAAGGAACTGTTCAG	0.378000														160			50		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4260977	4260977	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:4260977G>A	uc003smx.3	+	39	5947	c.5808G>A	c.(5806-5808)gtG>gtA	p.V1936V	SDK1_uc010kso.3_Silent_p.V1192V|SDK1_uc003smy.3_Silent_p.V423V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1936	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGCTATGTGATCGAGGCCC	0.637000														11			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046079	9046079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9046079G>A	uc002mkp.3	-	4	35756	c.35552C>T	c.(35551-35553)tCc>tTc	p.S11851F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11853	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGATGGGTGGAAAGTGGGGC	0.478000														60			32		0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69369170	69369170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:69369170G>A	uc002ewy.2	-	2	738	c.667C>T	c.(667-669)Cct>Tct	p.P223S		NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	223					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AGGCAGGCAGGAAGCTGGATG	0.572000														18			10		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55518375	55518375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:55518375G>A	uc001cyf.2	+	4	1072	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	237	Peptidase S8.		R -> W.		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTCAGCGGCCGGGATGCCGGC	0.647000														38			17		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31267970	31267970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:31267970C>T	uc002hhq.3	+	7	1098	c.640C>T	c.(640-642)Cca>Tca	p.P214S	TMEM98_uc002hhr.3_Missense_Mutation_p.P214S	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	214						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TAAAGGCCTCCCAGGCCCTGA	0.597000														14			16		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161139760	161139760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr6:161139760G>A	uc003qtm.4	+	8	1098	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	329	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATCCTGACGGAAAAAGGGCC	0.463000														10			25		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861741	14861741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:14861741C>T	uc003bzc.3	+	0	1273	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L	FGD5_uc011avk.2_Missense_Mutation_p.P388L	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	388					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGGAGAACCCCATGGTGGGG	0.612000														50			17		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373853	138373853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:138373853G>A	uc002tva.1	+	16	3442	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTCCTGAATGAAAATTGCTT	0.453000														80			38		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366251	10366251	+	Silent	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr17:10366251G>A	uc002gmn.3	-	10	1050	c.939C>T	c.(937-939)ttC>ttT	p.F313F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	313	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			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						TGACAAATGCGAAGTCATATG	0.408000														56			41		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173545850	173545850	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:173545850C>T	uc001giz.2	-	7	1275	c.852G>A	c.(850-852)ctG>ctA	p.L284L	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	284					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATCTAAATTCAGTCCTACAG	0.368000														31			31		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143586695	143586695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr5:143586695G>A	uc003lnm.1	+	2	1047	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KCTD16_uc003lnn.1_Missense_Mutation_p.E140K	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	140						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CAGTGACTTTGAAGATGCCTC	0.527000														76			27		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166850909	166850909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:166850909C>T	uc002udo.4	-	26	4826	c.4599G>A	c.(4597-4599)atG>atA	p.M1533I	SCN1A_uc010fpk.3_Missense_Mutation_p.M1505I|SCN1A_uc021vsb.1_Missense_Mutation_p.M1522I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1533						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D1533Y(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTCAAAGACCATTCCTTGAA	0.353000														12			5		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436557	27436557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:27436557G>A	uc011aww.2	-	18	2974	c.2753C>T	c.(2752-2754)cCt>cTt	p.P918L	SLC4A7_uc011awx.2_Missense_Mutation_p.P905L|SLC4A7_uc021wun.1_Missense_Mutation_p.P794L|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.P901L|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.P790L|SLC4A7_uc011axb.2_Missense_Mutation_p.P905L|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.P790L|SLC4A7_uc010hfl.3_Missense_Mutation_p.P459L|SLC4A7_uc003cdv.3_Missense_Mutation_p.P909L|SLC4A7_uc003cdw.3_Missense_Mutation_p.P785L	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	909						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GGTCCACCAAGGATTATCTCC	0.368000														53			17		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153808	5153808	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:5153808C>T	uc001qni.3	+	0	724	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	165						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGTACTTCTTCGACCGCAACC	0.667000														50			33		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47350211	47350211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:47350211C>T	uc001ner.1	+	34	4986	c.4795C>T	c.(4795-4797)Cct>Tct	p.P1599S	MADD_uc001neq.2_Missense_Mutation_p.P1540S|MADD_uc001nev.1_Silent_p.F1473F|MADD_uc001nes.1_Missense_Mutation_p.P1517S|MADD_uc001net.1_Missense_Mutation_p.P1560S|MADD_uc009yln.1_Missense_Mutation_p.P1493S|MADD_uc001neu.1_Missense_Mutation_p.P1497S|MADD_uc001nez.2_Missense_Mutation_p.P1496S|MADD_uc001new.2_Missense_Mutation_p.P1539S|MADD_uc001nex.2_Silent_p.F1575F	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1599					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGTTTTAGTTCCTGAAATTAA	0.582000														21			30		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr4:189068456C>T	uc003izm.1	+	5	1452	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	TRIML1_uc003izn.1_Missense_Mutation_p.S170F	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.F445I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562000														96			32		0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47556881	47556881	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr21:47556881C>T	uc002zig.3	-	13	1670	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	FTCD_uc002zie.3_Non-coding_Transcript|FTCD_uc002zif.3_Intron|FTCD_uc002zih.3_3'UTR|FTCD_uc010gqf.3_3'UTR			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	49					folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCACAGAGCCCGGAGAGGCCT	0.677000														17			4		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429947	57429947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr20:57429947C>T	uc002xzw.3	+	0	1912	c.1627C>T	c.(1627-1629)Ccg>Tcg	p.P543S	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, 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)			TCCGCCTACTCCGCGGCCTAC	0.711000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				2			3		0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34976538	34976538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr9:34976538C>T	uc003zvq.3	+	4	828	c.650C>T	c.(649-651)tCc>tTc	p.S217F	KIAA1045_uc003zvr.3_Missense_Mutation_p.S217F	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	217							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACAGATTGCTCCCTGACACTG	0.662000														26			15		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284863	52284863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr12:52284863G>A	uc001rzd.3	+	4	1311	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Intron|ANKRD33_uc001rze.3_Missense_Mutation_p.G274D|ANKRD33_uc001rzg.4_Intron|ANKRD33_uc001rzi.4_Intron	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	13								p.G378S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCCCTCAGGGCATATTGAGC	0.642000														30			28		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19758433	19758433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:19758433G>A	uc002nnh.4	-	19	2796	c.2768C>T	c.(2767-2769)tCc>tTc	p.S923F	ATP13A1_uc002nne.3_Missense_Mutation_p.S63F|ATP13A1_uc002nnf.4_Missense_Mutation_p.S291F|ATP13A1_uc002nng.3_Missense_Mutation_p.S805F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	923					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(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGCTCCTCGGAGGGAGGGAG	0.692000														24			10		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2815229	2815229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr8:2815229G>A	uc022aqr.1	-	62	10193	c.9803C>T	c.(9802-9804)aCc>aTc	p.T3268I	CSMD1_uc011kwj.2_Missense_Mutation_p.T2598I|CSMD1_uc010lrg.3_Missense_Mutation_p.T1160I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3269	Sushi 27.					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)		TATACATTCGGTCTGTATCCC	0.433000														7			8		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24358083	24358083	+	Silent	SNP	C	T	T			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:24358083C>T	uc002dmf.3	+	1	1442	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAAGAAAATCGATCACTTCC	0.582000														37			29		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228506831	228506831	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr1:228506831delC	uc009xez.1	+	53	14422	c.14378delC	c.(14377-14379)gccfs	p.A4793fs	OBSCN_uc001hsn.3_Frame_Shift_Del_p.A4793fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4793					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGAGCTGGCCCGCACTGGA	0.647													---	29	---	---	9	---					
NRBP1	29959	broad.mit.edu	37	2	27663753	27663754	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr2:27663753_27663754insC	uc002rko.3	+	14	2107_2108	c.1275_1276insC	c.(1273-1278)gtgcccfs	p.V425fs	NRBP1_uc002rkp.3_Frame_Shift_Ins_p.V425fs|NRBP1_uc002rkr.3_Frame_Shift_Ins_p.V216fs|KRTCAP3_uc002rks.3_5'Flank|KRTCAP3_uc010ylr.2_5'Flank|KRTCAP3_uc021vfd.1_5'Flank|KRTCAP3_uc002rkt.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	425					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CACCTGTCGTGCCCCCCTCTGT	0.599													---	63	---	---	20	---					
UBA3	9039	broad.mit.edu	37	3	69112644	69112649	+	In_Frame_Del	DEL	AATATG	-	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr3:69112644_69112649delAATATG	uc003dno.3	-	7	498_503	c.478_483delCATATT	c.(478-483)catattdel	p.HI160del	UBA3_uc003dnq.3_In_Frame_Del_p.HI146del|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_5'UTR	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	160	Interaction with UBE2M N-terminus.				protein neddylation|proteolysis	nucleus	ATP binding|acid-amino acid ligase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CACATACAATAATATGAAATTCTACA	0.325													---	18	---	---	7	---					
TNRC18	84629	broad.mit.edu	37	7	5352666	5352668	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr7:5352666_5352668delGAG	uc003soi.4	-	26	8203_8205	c.7854_7856delCTC	c.(7852-7857)tcctca>tca	p.2618_2619SS>S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2618	Ser-rich.						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)		ggaggaggatgaggaggaggagg	0.660													---	4	---	---	2	---					
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	-	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:57365774_57365776delCTG	uc001nkp.1	+	1	222_224	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													---	3	---	---	3	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	Splice_Site	INS	-	T	T	rs33924686	by1000genomes	TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr11:102738795_102738796insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													---	5	---	---	3	---					
TCF25	22980	broad.mit.edu	37	16	89964979	89964979	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr16:89964979delC	uc002fpb.2	+	9	1119	c.1037delC	c.(1036-1038)gccfs	p.A346fs	TCF25_uc002fpc.2_Frame_Shift_Del_p.A111fs	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	346					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTCTACCTGGCCCTCTACAAG	0.572													---	118	---	---	33	---					
MUC16	94025	broad.mit.edu	37	19	9058690	9058690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:9058690delT	uc002mkp.3	-	2	28960	c.28756delA	c.(28756-28758)aggfs	p.R9586fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9588	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTCTCCCTCAGTCCAGGG	0.507													---	19	---	---	9	---					
STRN4	29888	broad.mit.edu	37	19	47226405	47226407	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A3JA-06A-11D-A20D-08	TCGA-EE-A3JA-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ac50a87-5fce-418c-afc2-c59e868a71f8	0892f851-4695-4c74-a323-e67e89435d2e	g.chr19:47226405_47226407delGCT	uc002pfm.3	-	12	1783_1785	c.1750_1752delAGC	c.(1750-1752)agcdel	p.S584del	STRN4_uc002pfl.3_In_Frame_Del_p.S577del|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	577						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCAGGCCGGGCTGCTGCTGCTG	0.700													---	4	---	---	2	---					
