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
TRPC6	7225	broad.mit.edu	37	11	101325831	101325831	+	Splice_Site	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:101325831A>G	uc001pgk.4	-	11	2910	c.2485_splice	c.e11-1	p.V829_splice	TRPC6_uc009ywy.3_Splice_Site_p.V713_splice|TRPC6_uc009ywz.1_Splice_Site_p.V774_splice	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	829					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATTGTGCCCAACCTGTAATTT	0.294000														5			16		0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62483029	62483030	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:62483029_62483030GT>AA	uc001nuw.3	-	12	2334_2335	c.2105_2106AC>TT	c.(2104-2106)tac>tTT	p.Y702F	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	702	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AATCTCGCCCGTAAAATCGATC	0.431000														38			16		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100999688	100999688	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:100999688C>T	uc001pgh.2	-	0	857	c.114G>A	c.(112-114)ggG>ggA	p.G38G	PGR_uc001pgi.2_Silent_p.G38G|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	38	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGGTCTGGCTCCCCGGGAACG	0.706000														8			18		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32180277	32180277	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:32180277G>A	uc003obb.3	-	16	2793	c.2654C>T	c.(2653-2655)tCc>tTc	p.S885F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	885	EGF-like 23.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTTCTGGCAGGAGGACAGTGG	0.602000														133			51		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100331934	100331935	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:100331934_100331935CC>TT	uc001ygr.3	+	2	403_404	c.334_335CC>TT	c.(334-336)cca>TTa	p.P112L	EML1_uc010avt.1_Missense_Mutation_p.P99L|EML1_uc010tww.2_Missense_Mutation_p.P81L|EML1_uc001ygq.3_Missense_Mutation_p.P112L|EML1_uc001ygs.3_Missense_Mutation_p.P112L	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	112						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGCTCTCTACCATCCCCCTCC	0.495000														36			8		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10630945	10630945	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:10630945C>T	uc002wnw.2	-	8	1700	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	JAG1_uc010gcd.1_5'UTR	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	395	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACACTTAAATCCGTTAACCAG	0.463000									Alagille Syndrome					24			17		0	0	1	0	0
C9orf71	169693	broad.mit.edu	37	9	71155629	71155629	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:71155629G>A	uc004agt.3	-	0	155	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA.	34						integral to membrane				endometrium(1)|lung(2)|prostate(1)	4						CCTGACAGTCGAATATGGAGC	0.537000														22			9		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091084	147091084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:147091084C>T	uc001epq.3	+	7	1863	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	BCL9_uc010ozr.1_Missense_Mutation_p.P301S	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	375	CTNNB1-binding.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P375S(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CATGCTTTTTCCTGATGAGAA	0.537000			T	"""IGH@, IGL@"""	B-ALL									177			85		0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204599511	204599511	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:204599511G>A	uc002vah.4	+	3	761	c.539G>A	c.(538-540)aGg>aAg	p.R180K	CD28_uc010zio.2_Missense_Mutation_p.R83K|CD28_uc010ftx.3_Missense_Mutation_p.R61K|CD28_uc002vaj.4_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	180					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CTGCAGGTGAGGAGTAAGAGG	0.527000														45			39		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42680018	42680018	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:42680018G>A	uc010ggo.3	+	3	524	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TOX2_uc002xle.4_Missense_Mutation_p.A120T|TOX2_uc010ggp.3_Missense_Mutation_p.A120T|TOX2_uc002xlf.4_Missense_Mutation_p.A171T|TOX2_uc010zwk.2_Missense_Mutation_p.A40T	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGGTCGCCCGGCAATGCTGGC	0.662000														35			35		0	0	1	0	0
C11orf54	28970	broad.mit.edu	37	11	93492939	93492939	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:93492939C>T	uc001peh.3	+	7	883	c.689C>T	c.(688-690)tCt>tTt	p.S230F	C11orf54_uc001pef.3_Missense_Mutation_p.S180F|C11orf54_uc009ywi.3_Missense_Mutation_p.S230F|C11orf54_uc001peg.3_Missense_Mutation_p.S230F|C11orf54_uc001pei.3_Missense_Mutation_p.S211F|C11orf54_uc001pej.3_Missense_Mutation_p.S211F|C11orf54_uc001pek.3_Missense_Mutation_p.S119F	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	230						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCCTTGAACTCTGATGAAGAA	0.328000														22			57		0	0	1	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800540	74800540	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:74800540G>A	uc010rro.2	-	0	219	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGATGTCCAAGGTGGAGAGAT	0.522000														16			38		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531897	42531897	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:42531897G>A	uc010dni.3	+	3	2888	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	864						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGAGGAGACGATCCCCAGCG	0.552000									Schinzel-Giedion syndrome					15			13		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039459	248039459	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:248039459C>T	uc001ido.3	+	5	1177	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	377	B30.2/SPRY.					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)			CACGCCATCTCCTGAGAATGG	0.567000														106			77		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57598417	57598417	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:57598417C>T	uc001snd.3	+	71	11545	c.11079C>T	c.(11077-11079)ttC>ttT	p.F3693F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3693	LDL-receptor class A 30.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCCCGGTTCGTGTGCCCTC	0.642000														162			27		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394322	86394322	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:86394322G>A	uc003uid.3	+	2	960	c.-139_splice	c.e2-1		GRM3_uc010lef.3_Splice_Site|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.						synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATCTCTTTAGGAATTTTGTGA	0.388000														14			5		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180053029	180053029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:180053029G>A	uc003mlz.4	-	9	1340	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	FLT4_uc003mma.4_Missense_Mutation_p.P421S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.P421S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	421					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)	ATCTGGGGGGGCACTGTGGGC	0.677000														73			45		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468998	56468998	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:56468998C>T	uc021wzo.1	-	0	178	c.38G>A	c.(37-39)gGt>gAt	p.G13D	ERC2_uc003dhr.1_Missense_Mutation_p.G13D	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	13						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGAAGGGCTACCTTCCAGATT	0.463000														22			8		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30821653	30821653	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:30821653T>G	uc003tbt.3	+	2	321	c.244T>G	c.(244-246)Ttt>Gtt	p.F82V	FAM188B_uc010kwe.3_Missense_Mutation_p.F53V	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	82										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGGATCACTTTGGAAATAC	0.368000														46			35		0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100531342	100531342	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:100531342A>T	uc004ehb.3	-	9	1150	c.1124T>A	c.(1123-1125)tTt>tAt	p.F375Y	TAF7L_uc004eha.3_Intron|TAF7L_uc004ehc.2_Missense_Mutation_p.F289Y	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	375	Glu-rich.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.E374K(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGATTCAATAAACTCGGCCTG	0.468000														11			90		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428305	10428305	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:10428305C>T	uc010coi.3	-	33	4868	c.4740G>A	c.(4738-4740)agG>agA	p.R1580R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1580R|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.	1580					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.D1579H(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						CAGCAATTTTCCTATCAACCT	0.453000														77			84		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884716	228884716	+	Missense_Mutation	SNP	C	T	T	rs145402025		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:228884716C>T	uc002vpq.2	-	6	901	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	SPHKAP_uc002vpp.2_Missense_Mutation_p.R285Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R285Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	285						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTGGAGATCGTTCTGTTTT	0.443000														134			40		0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74701951	74701951	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:74701951G>A	uc010xfd.2	-	4	906	c.243C>T	c.(241-243)acC>acT	p.T81T	MBP_uc002lml.3_Silent_p.T107T|MBP_uc002lmn.3_Silent_p.T107T|MBP_uc002lmp.3_Silent_p.T81T|MBP_uc010xfe.1_Silent_p.T81T|MBP_uc010dqz.3_5'Flank	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Homo sapiens myelin basic protein (MBP), transcript variant 7, mRNA.	214					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		TTTCATCTTGGGTCCGGCCGT	0.572000														40			27		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17141516	17141516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:17141516G>A	uc001mmq.4	-	14	2728	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.S508F|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	888					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ATCTTCTTTAGAAAGTCTGCA	0.284000														13			11		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244370	56244370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:56244370C>T	uc002qly.3	-	1	855	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	276	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGCCAGTTTTCCTAATGCAAT	0.408000														53			18		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6825340	6825340	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:6825340C>T	uc002mfu.1	+	7	847	c.750C>T	c.(748-750)ttC>ttT	p.F250F	VAV1_uc010xjh.1_Silent_p.F218F|VAV1_uc010dva.1_Silent_p.F250F|VAV1_uc002mfv.1_Silent_p.F195F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	250	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ATACTCACTTCCTAAAGGAGA	0.587000														48			7		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120387057	120387057	+	Missense_Mutation	SNP	C	G	G	rs140448413		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:120387057C>G	uc010oxk.2	-	0	723	c.102G>C	c.(100-102)gaG>gaC	p.E34D		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	34						cytoplasm		p.E34E(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		GAATGTTCATCTCTGCTTTCT	0.483000											OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			63		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31855777	31855777	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:31855777G>A	uc001wrf.4	-	8	1379	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	HEATR5A_uc010ami.3_Silent_p.A3A|HEATR5A_uc001wrg.1_Intron|HEATR5A_uc010tpk.1_Silent_p.A398A	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	392							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CACTCATTACGGCATCTGATA	0.373000														68			48		0	0	1	0	0
NDUFS3	4722	broad.mit.edu	37	11	47593296	47593296	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:47593296G>A	uc001nft.3	+	3	721	c.-142_splice	c.e3+1		PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR			O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.						induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	GTGCCAATAGGTAATAGGTAA	0.383000														12			21		0	0	1	0	0
RAB40A	142684	broad.mit.edu	37	X	102755029	102755029	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:102755029C>T	uc022cbs.1	-	0	656	c.656G>A	c.(655-657)aGa>aAa	p.R219K	RAB40A_uc004ekk.3_Missense_Mutation_p.R219K	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.	219	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						GAGGTGGCTTCTTAAGGTACT	0.587000														24			119		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407142	2407142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:2407142G>A	uc022brx.1	-	0	1619	c.1619C>T	c.(1618-1620)cCc>cTc	p.P540L	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P540L|ZBED1_uc004cqg.2_Missense_Mutation_p.P540L|ZBED1_uc022brw.1_Missense_Mutation_p.P540L	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	540						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				GACGCTGGCGGGCGGCGGCGT	0.647000														26			46		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17874413	17874413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:17874413G>A	uc003stv.3	-	13	1648	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	SNX13_uc010kuc.3_Missense_Mutation_p.P276S|SNX13_uc003stw.1_Missense_Mutation_p.P479S	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	479	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAGATTTCAGGGGTTGGATCT	0.279000														23			11		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75801321	75801322	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:75801321_75801322GG>AA	uc002bal.3	-	5	1083_1084	c.575_576CC>TT	c.(574-576)ccc>cTT	p.P192L		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	192	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						GGAACCATATGGGTGCCCCCAC	0.485000														28			8		0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	118008992	118008992	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:118008992C>T	uc001ehd.1	+	7	1832	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	MAN1A2_uc009whg.1_Missense_Mutation_p.R161C	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	371					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		GAAAATGGATCGTCCAAATGG	0.333000														19			19		0	0	1	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307508	146307508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:146307508C>T	uc010hvc.3	-	5	1713	c.709G>A	c.(709-711)Gga>Aga	p.G237R	PLSCR5_uc010hvb.3_Missense_Mutation_p.G225R	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	Homo sapiens phospholipid scramblase family, member 5 (PLSCR5), mRNA.	237										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						ACATGAATTCCGAAATTGTCA	0.373000														39			16		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43014090	43014090	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:43014090T>C	uc003xpx.4	+	3	444	c.396T>C	c.(394-396)ttT>ttC	p.F132F		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	160					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTGGAGAATTTGGAAACTATT	0.358000														10			13		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123779926	123779926	+	Missense_Mutation	SNP	G	A	A	rs147226792		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:123779926G>A	uc004bkv.3	-	12	1741	c.1711C>T	c.(1711-1713)Ctc>Ttc	p.L571F	C5_uc010mvm.1_Missense_Mutation_p.L571F|C5_uc010mvn.1_Missense_Mutation_p.L571F	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	571					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTTACCTGGAGCTGGTTGCCA	0.388000														28			11		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26687826	26687826	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:26687826T>C	uc002rhk.3	-	38	4998	c.4871A>G	c.(4870-4872)aAa>aGa	p.K1624R	OTOF_uc010yla.2_Missense_Mutation_p.K354R|OTOF_uc002rhh.3_Missense_Mutation_p.K857R|OTOF_uc002rhi.3_Missense_Mutation_p.K934R|OTOF_uc002rhj.3_Missense_Mutation_p.K857R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1624					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGTCCACTTTGCCGTCTTT	0.617000														63			3		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62195261	62195261	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:62195261G>A	uc002yfm.2	-	8	5806	c.4914C>T	c.(4912-4914)ctC>ctT	p.L1638L	PRIC285_uc002yfl.1_Silent_p.L1069L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1638					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGGCCTTGCGGAGGTCGCGGC	0.682000														13			12		0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108499447	108499447	+	Splice_Site	SNP	T	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:108499447T>A	uc003psg.3	+	5	1397	c.642_splice	c.e5+2	p.Q214_splice		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	214	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CAAGACCAGGTATGACCACAC	0.517000														34			12		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34260690	34260690	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:34260690G>A	uc002xdw.2	-	11	1374	c.1297C>T	c.(1297-1299)Ctt>Ttt	p.L433F	CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript|NFS1_uc002xdt.2_Missense_Mutation_p.L373F|NFS1_uc010zvl.2_Missense_Mutation_p.L382F|NFS1_uc010zvk.2_Missense_Mutation_p.L231F	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	433					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ATTTCTCGAAGACGCTTCACA	0.453000														24			12		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113699529	113699529	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:113699529T>A	uc003eax.3	-	13	2422	c.2275A>T	c.(2275-2277)Aga>Tga	p.R759*	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	759										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTCTCAATCTCTTCCAAGGC	0.423000														97			46		0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41616870	41616870	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:41616870G>A	uc003azo.3	+	6	905	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	L3MBTL2_uc010gyi.1_Missense_Mutation_p.R193Q|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	284					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCCCACGGAGTGAGTTG	0.537000														61			22		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173284	51173284	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:51173284C>T	uc021tif.1	-	1	2880	c.2558G>A	c.(2557-2559)aGa>aAa	p.R853K	SALL1_uc021tid.1_Missense_Mutation_p.R853K|SALL1_uc021tie.1_Missense_Mutation_p.R950K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	950					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGACCGCTCTCTGTGGTTT	0.527000														23			25		0	0	1	0	0
FAM20C	56975	broad.mit.edu	37	7	208951	208952	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:208951_208952GG>AA	uc003sip.3	+	2	1069_1070	c.838_839GG>AA	c.(838-840)ggg>AAg	p.G280K		NM_020223	NP_064608	Q8IXL6	DMP4_HUMAN	Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.	280				MTFQNYGQALFKPMK -> FLSDKPFLFLSCFLR (in Ref. 5; CAB99089).		extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCAGAATTACGGGCAAGCGCTG	0.629000														6			4		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34156470	34156470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:34156470G>A	uc021uiv.1	+	5	665	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	FHOD3_uc002kzr.1_Missense_Mutation_p.E190K|FHOD3_uc002kzs.1_Missense_Mutation_p.E190K|FHOD3_uc002kzt.1_Missense_Mutation_p.E190K|FHOD3_uc002kzu.1_Missense_Mutation_p.E15K	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	190	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAACCGCAATGAAACCATTCA	0.378000														36			14		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948706	133948706	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:133948706G>A	uc004caa.1	+	19	3590	c.3492G>A	c.(3490-3492)agG>agA	p.R1164R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1164	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCGCCAGGAGGTGAGTCC	0.607000														35			12		0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18007134	18007134	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:18007134C>T	uc002gsh.1	+	9	881	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	276					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					GAAGCTGAACCTGGACTATCT	0.567000														193			22		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969602	240969602	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:240969602C>T	uc001hyt.2	-	7	657	c.603G>A	c.(601-603)ctG>ctA	p.L201L	RGS7_uc010pyh.2_Silent_p.L343L|RGS7_uc010pyj.1_Silent_p.L285L|RGS7_uc001hyu.2_Silent_p.L369L|RGS7_uc009xgn.1_Silent_p.L316L|RGS7_uc001hyv.2_Silent_p.L369L|RGS7_uc001hyw.2_Silent_p.L369L	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	369					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GCCTCTTTTTCAGGTCCTCCA	0.458000														162			32		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106757935	106757935	+	RNA	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:106757935C>T	uc021ser.1	-	749		c.19443G>A								Parts of antibodies, mostly variable regions.																		GACCAGACTCCTTCAAGGTGA	0.532000														40			12		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47269126	47269126	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:47269126G>A	uc002xtw.1	-	20	2488	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	PREX1_uc002xtv.1_Missense_Mutation_p.S119L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	822					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTATTACCTGAATCAGCCTG	0.637000														122			85		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898756	159898756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:159898756C>T	uc001fur.2	-	18	2620	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	IGSF9_uc001fuq.2_Missense_Mutation_p.G792R|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	808						cell junction|integral to membrane|synapse		p.A808A(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGGGATCCCTGGAGCTTC	0.667000														8			11		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254796	51254796	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:51254796C>T	uc021vhh.1	-	0	1537	c.616G>A	c.(616-618)Gat>Aat	p.D206N	NRXN1_uc021vhg.1_Missense_Mutation_p.D206N|NRXN1_uc021vhi.1_Missense_Mutation_p.D206N|NRXN1_uc021vhj.1_Missense_Mutation_p.D206N|NRXN1_uc021vhk.1_Missense_Mutation_p.D206N	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	206	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCGGCTCATCGTCCAGCTTC	0.697000														7			4		0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32786516	32786516	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:32786516C>T	uc010ske.2	+	14	2215	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	FGD4_uc001rlc.3_Nonsense_Mutation_p.Q684*|FGD4_uc001rky.3_Nonsense_Mutation_p.Q351*|FGD4_uc001rkz.3_Nonsense_Mutation_p.Q599*|FGD4_uc001rla.3_Nonsense_Mutation_p.Q255*|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	599	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CTACAAAGCTCAACTTGAATA	0.303000														23			16		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799206	38799206	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:38799206T>G	uc003gtl.3	-	3	1521	c.1247A>C	c.(1246-1248)aAa>aCa	p.K416T	TLR1_uc021xnn.1_Missense_Mutation_p.K416T	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	416					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						ACAGTCTCCTTTCTTTTCATC	0.318000														32			13		0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88744976	88744977	+	Missense_Mutation	DNP	CC	TT	TT	rs141257304		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:88744976_88744977CC>TT	uc002flj.3	-	2	826_827	c.758_759GG>AA	c.(757-759)cgg>cAA	p.R253Q	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	253					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGATGGGCCCGAAGGTTGGA	0.644000														24			33		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319203	70319203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:70319203G>A	uc001oqc.3	-	21	5235	c.5123C>T	c.(5122-5124)tCa>tTa	p.S1708L	SHANK2_uc010rqn.2_Missense_Mutation_p.S1184L|SHANK2_uc001opz.3_Missense_Mutation_p.S1179L|BC127192_uc009ysn.1_Missense_Mutation_p.E35K|SHANK2_uc001opy.3_Missense_Mutation_p.S110L|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1395					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGCTTATTTGAGATTGGCTG	0.507000														58			21		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58953747	58953747	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:58953747C>T	uc010trr.2	+	23	3570	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	KIAA0586_uc001xdu.4_Missense_Mutation_p.P1041L|KIAA0586_uc010trs.2_Missense_Mutation_p.P971L|KIAA0586_uc001xdt.4_Missense_Mutation_p.P1012L|KIAA0586_uc001xdv.4_Missense_Mutation_p.P980L|KIAA0586_uc010trt.2_Missense_Mutation_p.P916L|KIAA0586_uc010tru.1_Missense_Mutation_p.P916L	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	980										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCCACTGCCTACCCCACAG	0.398000														42			23		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453819	37453819	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:37453819G>A	uc001uvw.3	-	1	351	c.8C>T	c.(7-9)tCc>tTc	p.S3F	SMAD9_uc001uvx.3_Missense_Mutation_p.S3F|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	3					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGGGGTGGTGGAGTGCATAAG	0.617000														59			37		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39627829	39627829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:39627829G>A	uc003axf.3	-	3	1243	c.254C>T	c.(253-255)tCc>tTc	p.S85F	PDGFB_uc003axe.3_Missense_Mutation_p.S70F	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	85					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)	AATGGTCAGGGAACCTGGGAG	0.642000			T	COL1A1	DFSP									25			3		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414237	19414237	+	RNA	SNP	A	T	T	rs3963827		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:19414237A>T	uc010tcj.1	-	0		c.31873T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTCTTCTCTATTTTTTTTGT	0.294000														26			3		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111964008	111964008	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:111964008G>A	uc001eba.3	-	7	849	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	OVGP1_uc001eaz.3_Missense_Mutation_p.R227C|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	265					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CGAAAGGTACGTCCATAGGTG	0.522000														51			42		0	0	1	0	0
TDP2	51567	broad.mit.edu	37	6	24658906	24658906	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:24658906G>A	uc003nej.3	-	2	333	c.308C>T	c.(307-309)tCt>tTt	p.S103F	TDP2_uc010jpu.1_Missense_Mutation_p.S103F	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	103					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						AGTATCTTCAGATGGGCTGAT	0.398000								Direct reversal of damage						83			30		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104476331	104476331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:104476331C>T	uc001tkj.4	+	5	924	c.821C>T	c.(820-822)tCa>tTa	p.S274L	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	274					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACTGAGACTTCACCTCATGAT	0.338000														65			37		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117314656	117314656	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:117314656A>T	uc001prh.1	-	20	3990	c.3988T>A	c.(3988-3990)Tct>Act	p.S1330T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1270	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGGCCGGCAGAGGTGACGGCG	0.632000														14			19		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81697706	81697706	+	Missense_Mutation	SNP	C	T	T	rs142628179		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:81697706C>T	uc001kbh.3	-	7	1073	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	344	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCGCCATCATCGTTGGGCTCC	0.552000														44			82		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634819	33634819	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:33634819G>A	uc001uus.3	+	3	1611	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	535	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCACAGGTAGATACCACTCT	0.443000														37			23		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700756	136700756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	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														79			49		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48423235	48423235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:48423235C>T	uc003csr.3	+	8	1217	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	FBXW12_uc010hjv.3_Missense_Mutation_p.P325L|FBXW12_uc003css.3_Missense_Mutation_p.P274L|FBXW12_uc010hjw.3_Missense_Mutation_p.P243L	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	344										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGAAGTGCCCTATCTGGATG	0.428000														23			16		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891353	89891353	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:89891353C>T	uc001pdf.4	+	6	946	c.837C>T	c.(835-837)atC>atT	p.I279I	NAALAD2_uc009yvx.3_Silent_p.I279I|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Silent_p.I279I|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	279	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)				GAGTGGGAATCCCCCGAATAC	0.313000														16			39		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283109	69283109	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:69283109C>T	uc004dxu.1	+	0	769	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	245	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTGATCATCGGGGAGGAGT	0.647000														4			45		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762637	24762637	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:24762637G>A	uc001iru.4	+	5	1730	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	KIAA1217_uc001irs.3_Missense_Mutation_p.E363K|KIAA1217_uc001irt.4_Missense_Mutation_p.E443K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E443K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E443K|KIAA1217_uc001irv.1_Missense_Mutation_p.E293K|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.E161K|KIAA1217_uc001irz.3_Missense_Mutation_p.E161K|KIAA1217_uc001irx.3_Missense_Mutation_p.E161K|KIAA1217_uc001iry.3_Missense_Mutation_p.E161K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	443					embryonic skeletal system development	cytoplasm		p.A442V(1)		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						AATGCAAGCGGAAATGCATAT	0.517000														38			21		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10995993	10995993	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:10995993G>A	uc002daj.4	+	6	716	c.583G>A	c.(583-585)Gag>Aag	p.E195K	CIITA_uc002dai.4_Missense_Mutation_p.E194K|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.E194K|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.E194K	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	194					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GTTCAACCAGGAGCCAGCCTC	0.617000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									93			31		0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31840267	31840267	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:31840267C>T	uc001bss.1	-	2	383	c.321G>A	c.(319-321)cgG>cgA	p.R107R		NM_004102	NP_004093	P05413	FABPH_HUMAN	Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA.	107					negative regulation of cell proliferation			p.R107L(1)		large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CAATTAGCTCCCGCACAAGTG	0.473000														107			97		0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664387	151664387	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:151664387G>A	uc003wkp.3	+	1	326	c.56G>A	c.(55-57)tGg>tAg	p.W19*	GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	19						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTTGGGATCTGGACAGCTCTG	0.393000														34			19		0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195009937	195009937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:195009937C>T	uc003fun.4	-	20	2328	c.2087G>A	c.(2086-2088)cGa>cAa	p.R696Q		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	696					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ATTGGCACCTCGTTTTAGGAA	0.363000														30			11		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394512	86394512	+	Silent	SNP	G	A	A	rs138292549		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:86394512G>A	uc003uid.3	+	1	1150	c.51G>A	c.(49-51)aaG>aaA	p.K17K	GRM3_uc010lef.3_Silent_p.K15K|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	17					synaptic transmission	integral to plasma membrane		p.K17N(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTTTTCAAAGGGATTTTTAC	0.393000														77			43		0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177053942	177053942	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:177053942C>T	uc002ukv.4	+	0	636	c.413C>T	c.(412-414)gCc>gTc	p.A138V	HOXD-AS1_uc021vsq.1_5'Flank|HOXD1_uc010fqy.3_Missense_Mutation_p.A138V|HOXD1_uc021vsr.1_Missense_Mutation_p.A138V	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	Homo sapiens homeobox D1 (HOXD1), mRNA.	138						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GCCACCTCGGCCGTCTTCTCG	0.706000														3			9		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204399051	204399051	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:204399051C>T	uc001haw.3	-	29	4875	c.4396G>A	c.(4396-4398)Gag>Aag	p.E1466K	PIK3C2B_uc010pqv.2_Missense_Mutation_p.E1438K	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1466	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCACCCACCTCGGCCACCTCA	0.667000														114			22		0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	210940298	210940298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:210940298G>A	uc002vds.3	-	5	1941	c.1733C>T	c.(1732-1734)cCt>cTt	p.P578L	KANSL1L_uc002vdt.3_Missense_Mutation_p.P578L|KANSL1L_uc002vdw.3_Missense_Mutation_p.P578L|KANSL1L_uc002vdv.3_Missense_Mutation_p.P578L|KANSL1L_uc002vdx.1_Missense_Mutation_p.P578L	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	578																	ATAAAAAGTAGGGCTCAATCT	0.413000														31			6		0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41236481	41236482	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:41236481_41236482CC>TT	uc001cge.3	+	9	1366_1367	c.1358_1359CC>TT	c.(1357-1359)ccc>cTT	p.P453L	NFYC_uc001cfx.4_Missense_Mutation_p.P349L|NFYC_uc009vwd.3_Missense_Mutation_p.P330L|NFYC_uc001cfz.3_Missense_Mutation_p.P329L|NFYC_uc010ojn.2_Missense_Mutation_p.P292L|NFYC_uc001cfy.4_Missense_Mutation_p.P330L|NFYC_uc001cgc.3_Missense_Mutation_p.P296L|NFYC_uc001cgb.3_Missense_Mutation_p.P434L	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	Homo sapiens nuclear transcription factor Y, gamma (NFYC), transcript variant 1, mRNA.	453					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGGCAGGCCCCCCAGGTGACCG	0.639000														64			32		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8713958	8713958	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:8713958C>T	uc002wnb.3	+	18	1965	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	PLCB1_uc010zrb.1_Silent_p.F553F|PLCB1_uc002wna.3_Silent_p.F654F|PLCB1_uc002wnc.1_Silent_p.F553F|PLCB1_uc002wnd.1_Silent_p.F231F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	654	PI-PLC Y-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCCAGAGTTCATGAGGAGGC	0.423000														72			49		0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134387467	134387467	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:134387467G>A	uc004cav.3	+	10	1294	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	POMT1_uc004cax.3_Silent_p.V342V|POMT1_uc011mcj.2_Silent_p.V120V|POMT1_uc004cau.3_Silent_p.V342V|POMT1_uc004caw.3_Silent_p.V288V|POMT1_uc011mck.2_Silent_p.V225V|POMT1_uc011mcl.2_Silent_p.V190V|POMT1_uc011mcm.2_Silent_p.V312V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	364	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AGCAACAGGTGACCTGTTACC	0.542000														18			8		0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517636	75517636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:75517636C>T	uc003udw.1	+	3	1148	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	RHBDD2_uc003udv.1_Missense_Mutation_p.S214F	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	355						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GCTGCAGGCTCCAAGGAGTCC	0.607000														124			34		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467228	56467229	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:56467228_56467229CC>TT	uc002qmh.3	+	2	1875_1876	c.1804_1805CC>TT	c.(1804-1806)ccg>TTg	p.P602L	NLRP8_uc010etg.3_Missense_Mutation_p.P602L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	602						cytoplasm	ATP binding	p.P602L(3)		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)		CCCACCTTCTCCGGGCAGTGGG	0.465000														35			18		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950642	235950642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:235950642C>T	uc002vvp.3	+	3	1622	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	SH3BP4_uc010fym.3_Missense_Mutation_p.T410I|SH3BP4_uc002vvq.3_Missense_Mutation_p.T410I	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	410					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCAAAAGCACAGTGGGCCTC	0.542000														29			21		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342248	60342248	+	RNA	SNP	G	C	C	rs76625372		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:60342248G>C	uc010woz.2	-	13		c.1881C>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						ATCTCTGAATGTCTCTCGAGC	0.483000														50			6		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997101	144997101	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:144997101C>T	uc003zaf.1	-	30	7577	c.7407G>A	c.(7405-7407)ctG>ctA	p.L2469L	PLEC_uc003zab.1_Silent_p.L2332L|PLEC_uc003zac.1_Silent_p.L2336L|PLEC_uc003zad.2_Silent_p.L2332L|PLEC_uc003zae.1_Silent_p.L2300L|PLEC_uc003zag.1_Silent_p.L2310L|PLEC_uc003zah.2_Silent_p.L2318L|PLEC_uc003zaj.2_Silent_p.L2359L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2469	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.L2468P(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTGCTGCTGCAGCAGTTCCG	0.662000														12			15		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85906120	85906120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:85906120G>A	uc004eew.2	+	3	892	c.722G>A	c.(721-723)gGa>gAa	p.G241E	DACH2_uc004eex.2_Missense_Mutation_p.G228E|DACH2_uc010nmq.2_Missense_Mutation_p.G107E|DACH2_uc011mra.1_Missense_Mutation_p.G74E|DACH2_uc010nmr.2_Missense_Mutation_p.G22E	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAGGGAAATGGAAGCCAAAAT	0.433000														5			36		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32371575	32371575	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:32371575C>T	uc002wzy.3	+	11	1777	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	ZNF341_uc002wzx.3_Missense_Mutation_p.P579L|ZNF341_uc010geq.3_Missense_Mutation_p.P496L|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGTCATCTGCCCACCCACGGC	0.607000														50			45		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186113681	186113681	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:186113681G>A	uc001grq.1	+	90	14341	c.14112G>A	c.(14110-14112)gcG>gcA	p.A4704A	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.A273A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4704	TSP type-1 4.				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						GCAAGTGGGCGACTTGGGCCA	0.517000														173			84		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176008550	176008550	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:176008550C>T	uc021yie.1	+	16	2299	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	CDHR2_uc003mem.2_Silent_p.L675L|CDHR2_uc003men.1_Silent_p.L675L	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	675	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCCTGTCCTCGGCACCAAAG	0.637000														62			21		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008877	32008877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:32008877G>A	uc003nze.2	+	9	1561	c.1454G>A	c.(1453-1455)gGg>gAg	p.G485E	CYP21A2_uc003nzf.2_Missense_Mutation_p.G455E	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	484					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						CAGCCCCGGGGGATGGGGGCC	0.677000														5			20		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36939112	36939112	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:36939112C>A	uc001caw.2	-	5	1181	c.597G>T	c.(595-597)atG>atT	p.M199I	CSF3R_uc001cav.2_Missense_Mutation_p.M199I|CSF3R_uc001cax.2_Missense_Mutation_p.M199I	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	199	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCAGATGCCCATATTCTGGT	0.597000														73			20		4.96729e-08	5.02684e-08	1	1	0
TFR2	7036	broad.mit.edu	37	7	100225714	100225714	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:100225714G>A	uc003uvv.1	-	11	1588	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	TFR2_uc010lhc.1_Silent_p.L48L|TFR2_uc003uvu.1_Silent_p.L336L	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	507					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)					GCGTTGTCCAGGCTCACGTAC	0.672000														77			15		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113197546	113197546	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:113197546G>A	uc010mtz.3	-	28	5200	c.4863C>T	c.(4861-4863)atC>atT	p.I1621I		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1621	Pentaxin.				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						TCTTAGAATCGATCTTCACTT	0.448000														42			10		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80047254	80047254	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:80047254C>T	uc002kdu.3	-	12	2089	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	658	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AACTCAAACACCGGGGCCTGG	0.637000														40			43		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23870053	23870053	+	Silent	SNP	G	A	A	rs61742470	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:23870053G>A	uc001wjv.3	-	12	1346	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	MYH6_uc010akp.2_Silent_p.I425I	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	425	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGAGCCCCGATGGAGTAGT	0.582000														79			33		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022609	18022609	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:18022609C>T	uc021trm.1	+	0	714	c.495C>T	c.(493-495)tcC>tcT	p.S165S	MYO15A_uc021trl.1_Silent_p.S165S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	165	Myosin head-like.				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)					GCTCGAGCTCCCGCATGGGCT	0.677000														117			17		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893232	1893232	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:1893232C>T	uc002qxe.3	-	15	3128	c.2301G>A	c.(2299-2301)gtG>gtA	p.V767V	MYT1L_uc002qxd.3_Silent_p.V765V|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	767					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)		CGTTCTCATCCACCTCCATGT	0.602000														19			21		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923408	34923408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:34923408C>T	uc002yse.1	+	2	1920	c.1871C>T	c.(1870-1872)cCt>cTt	p.P624L	SON_uc002ysb.1_Missense_Mutation_p.P624L|SON_uc002ysc.3_Missense_Mutation_p.P624L|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P270L|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	624					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTGGGGCAGCCTCTGGCAACA	0.652000														54			23		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687237	158687237	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:158687237C>T	uc021pbn.1	-	0	669	c.669G>A	c.(667-669)gtG>gtA	p.V223V		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCCTCAATATCACAGTGACAA	0.448000														70			58		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354590	38354591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:38354590_38354591CC>TT	uc003cib.2	+	4	1118_1119	c.1045_1046CC>TT	c.(1045-1047)cct>TTt	p.P349F	SLC22A14_uc010hhc.1_Missense_Mutation_p.P349F|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	349						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GAAGACCATTCCTTCAAATCTG	0.594000														2			8		0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21117084	21117084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:21117084C>T	uc002wsb.3	+	2	339	c.206C>T	c.(205-207)tCt>tTt	p.S69F	PLK1S1_uc010zsh.2_Intron|PLK1S1_uc010zsi.2_Intron|PLK1S1_uc010zsj.2_Intron	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	69					spindle organization	centrosome	protein kinase binding										ATATGTGAATCTGAAAAGAAG	0.338000														8			7		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62194565	62194565	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:62194565G>A	uc002yfm.2	-	8	6502	c.5610C>T	c.(5608-5610)ttC>ttT	p.F1870F	PRIC285_uc002yfl.1_Silent_p.F1301F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1870					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCACCTCCAGGAAATGGCCAC	0.701000														19			3		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:80328367G>A	uc003hlu.3	-	0	1006	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	330					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGCCAACGAATAACAGCA	0.428000														71			55		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117405	117405	+	RNA	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrGL000205.1:117405C>T	uc002kgk.4	+	0		c.783C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TAAACGAAGTCGTGGGCGCCA	0.562000														82			16		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264863	231264863	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:231264863G>A	uc010fxm.1	+	14	1310	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	SP140L_uc010fxo.1_Missense_Mutation_p.E179K	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	407						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGATGAGTGTGAGGTGTGCCG	0.512000														79			20		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201233	71201233	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:71201233C>T	uc003hff.3	+	0	563	c.477C>T	c.(475-477)acC>acT	p.T159T	CABS1_uc021xoz.1_Silent_p.T159T	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	159						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTCAATAACCTCTGAAGTCT	0.408000														38			31		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117186686	117186686	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:117186686C>T	uc004biy.4	-	5	835	c.195G>A	c.(193-195)gaG>gaA	p.E65E	DFNB31_uc004bix.3_Silent_p.E97E|DFNB31_uc004biz.4_Silent_p.E448E|DFNB31_uc004bja.4_Silent_p.E448E	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	448					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACCACGGTACTCATCCAGGT	0.637000														43			21		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251212	1251212	+	Silent	SNP	T	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:1251212T>A	uc002qwq.3	+	11	1131	c.1002T>A	c.(1000-1002)ccT>ccA	p.P334P	SNTG2_uc010ewi.3_Silent_p.P207P	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	334	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TCAGCACTCCTCCGGTAAGGA	0.542000														12			20		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2050213	2050214	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:2050213_2050214GG>AA	uc002cof.1	-	10	1351_1352	c.1336_1337CC>TT	c.(1336-1338)ccc>TTc	p.P446F	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	446						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AGAGAGGCTGGGGAAGTCTTCG	0.658000														94			25		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7653847	7653847	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:7653847C>T	uc001qsz.3	-	2	473	c.345G>A	c.(343-345)atG>atA	p.M115I	CD163_uc001qta.3_Missense_Mutation_p.M115I|CD163_uc009zfw.2_Missense_Mutation_p.M115I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	115	SRCR 1.				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						AAACATGATCCATCCAAATGC	0.483000														100			77		0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105657312	105657312	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:105657312G>A	uc001kxl.3	-	5	822	c.747C>T	c.(745-747)tcC>tcT	p.S249S	OBFC1_uc001kxm.3_Silent_p.S249S	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	249					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCACTTGGTCGGAGGAGGCAC	0.527000														12			44		0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114244154	114244154	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:114244154G>T	uc004epx.3	-	6	907	c.782C>A	c.(781-783)cCt>cAt	p.P261H	IL13RA2_uc010nqd.1_Missense_Mutation_p.P261H|IL13RA2_uc022cdb.1_Missense_Mutation_p.P261H	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	261	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AGGTCCCAAAGGTATGCTCCA	0.373000														7			42		1.8453e-21	1.89199e-21	1	1	0
TERT	7015	broad.mit.edu	37	5	1271297	1271297	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:1271297C>T	uc003jcb.1	-	7	2463	c.2405G>A	c.(2404-2406)aGc>aAc	p.S802N	TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Missense_Mutation_p.S802N|TERT_uc003jca.1_Missense_Mutation_p.S790N|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	802	Reverse transcriptase.				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)			GAGGCCACTGCTGGCCTCATT	0.637000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					38			19		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201927	21201927	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:21201927G>A	uc003zop.1	-	0	278	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	80					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCTCATGGAGGACAGAGATG	0.468000														66			32		0	0	1	0	0
S100A16	140576	broad.mit.edu	37	1	153580059	153580059	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:153580059C>T	uc001fcc.2	-	2	396	c.263G>A	c.(262-264)gGc>gAc	p.G88D	S100A16_uc001fcd.1_Missense_Mutation_p.G88D	NM_080388	NP_525127	Q96FQ6	S10AG_HUMAN	Homo sapiens S100 calcium binding protein A16 (S100A16), mRNA.	88	EF-hand 2.					cytosol|nucleolus	calcium ion binding|protein homodimerization activity			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGATGGGGCCGGTGATGCC	0.592000														96			53		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73186523	73186523	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:73186523G>A	uc003hgk.2	-	6	1047	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	337	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCTGTTGGGACGCCCAGCG	0.453000														61			44		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612595	53612595	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:53612595G>A	uc002qax.3	-	6	1196	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	ZNF415_uc010yds.2_Nonsense_Mutation_p.Q235*|ZNF415_uc010ydt.2_Nonsense_Mutation_p.Q235*|ZNF415_uc002qau.3_Nonsense_Mutation_p.Q222*|ZNF415_uc002qav.3_Nonsense_Mutation_p.Q247*|ZNF415_uc002qaw.3_Nonsense_Mutation_p.Q235*|ZNF415_uc002qay.3_Nonsense_Mutation_p.Q222*|ZNF415_uc002qaz.3_Nonsense_Mutation_p.Q283*|ZNF415_uc002qba.3_Nonsense_Mutation_p.Q5*			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGACTTACCTGACGTACAGTC	0.403000														31			32		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516311	138516311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:138516311C>T	uc010nbd.1	-	4	717	c.463G>A	c.(463-465)Ggt>Agt	p.G155S		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	155					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATGTGTTCACCCAGGCTCTTC	0.577000														29			13		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153748254	153748254	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:153748254C>T	uc001fcz.3	+	0	487	c.422C>T	c.(421-423)tCa>tTa	p.S141L	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	141					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTAGCTACTCAGAGGCGGAG	0.716000														52			8		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657953	49657953	+	Missense_Mutation	SNP	C	T	T	rs148430204		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:49657953C>T	uc002pmv.3	-	0	729	c.542G>A	c.(541-543)gGa>gAa	p.G181E		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	181	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCTCGGTGTCCATGCCTGAG	0.577000														47			51		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51111352	51111352	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:51111352C>T	uc003tps.3	-	8	1490	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	COBL_uc003tpr.4_Silent_p.P378P|COBL_uc011kcl.2_Silent_p.P378P|COBL_uc010kzc.3_Silent_p.P378P|COBL_uc003tpp.4_Silent_p.P164P|COBL_uc003tpq.4_Silent_p.P319P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	378										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGCTCCATCCGGGCTGCAGT	0.612000														40			29		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525486	248525486	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:248525486G>A	uc001ieh.1	+	0	604	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R201S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CCCCTTCCGTGGATCCCGGGA	0.498000														208			177		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100137370	100137370	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:100137370G>A	uc003huo.2	-	1	162	c.68C>T	c.(67-69)tCt>tTt	p.S23F	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.S23F|ADH6_uc010ile.3_Missense_Mutation_p.S23F	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	23					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CTCTTCAATAGAAAATGGTGC	0.423000														56			14		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817322	69817322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:69817322C>T	uc003hef.2	-	0	188	c.157G>A	c.(157-159)Gta>Ata	p.V53I	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	53						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATACTGTTACCTCATGGCCT	0.463000														62			29		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31947833	31947833	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:31947833C>T	uc004dda.1	-	46	7036	c.6792G>A	c.(6790-6792)caG>caA	p.Q2264Q	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.Q920Q|DMD_uc004dcx.2_Silent_p.Q923Q|DMD_uc004dcz.2_Silent_p.Q2141Q|DMD_uc004dcy.1_Silent_p.Q2260Q|DMD_uc004ddb.1_Silent_p.Q2256Q|DMD_uc010ngn.1_Intron|JA202350_uc022bup.1_5'Flank	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2264					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)				TGAGAATTCCCTGGCGCAGGG	0.418000														11			57		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462893	21462893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:21462893C>T	uc003cce.3	-	7	1409	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	334						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGGTAGAATTCGTGGAGCCAA	0.433000														10			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640506	179640506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179640506C>T	uc021vsy.1	-	27	6310	c.6085G>A	c.(6085-6087)Gaa>Aaa	p.E2029K	TTN_uc021vsz.1_Missense_Mutation_p.E1983K|TTN_uc021vta.1_Missense_Mutation_p.E1983K|TTN_uc021vtb.1_Missense_Mutation_p.E1983K|TTN_uc002unb.2_Missense_Mutation_p.E2029K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2029							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)			CTGAGGAGTTCCTCATAGGAT	0.453000														91			13		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214820055	214820055	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:214820055G>A	uc001hkm.3	+	12	7316	c.7142G>A	c.(7141-7143)aGa>aAa	p.R2381K		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2477	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAGTCTGAGAGGTCTGGAA	0.383000														23			32		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29938927	29938927	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:29938927C>T	uc003cel.3	+	8	1219	c.849C>T	c.(847-849)atC>atT	p.I283I	RBMS3_uc010hfq.3_Silent_p.I296I|RBMS3_uc003cek.3_Silent_p.I283I|RBMS3_uc010hfr.3_Silent_p.I283I|RBMS3_uc003cem.3_Silent_p.I282I	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	283						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)				AGACATCTATCACGCCATTCA	0.413000														67			37		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110462768	110462768	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:110462768G>A	uc001pkz.1	-	10	1361	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	ARHGAP20_uc001pky.1_Missense_Mutation_p.P336L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P323L|ARHGAP20_uc001pla.1_Missense_Mutation_p.P323L|ARHGAP20_uc001plb.2_5'Flank	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	359					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGCTGTCCTGGCATAGGTGA	0.448000														22			82		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945210	48945210	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:48945210G>T	uc002pjc.4	+	10	2525	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	GRIN2D_uc010elx.3_Missense_Mutation_p.D48Y	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	813						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTTCCTGGGGGATGGTGCGGC	0.662000														34			8		1.12685e-05	1.13582e-05	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227945256	227945256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:227945256C>T	uc021vxr.1	-	22	1807	c.1706G>A	c.(1705-1707)gGa>gAa	p.G569E	COL4A4_uc021vxs.1_Missense_Mutation_p.G569E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	569	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTCTTTCTCCTTTGTGCCC	0.473000														46			25		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33463925	33463925	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:33463925C>T	uc003jhy.3	+	16	2198	c.1903C>T	c.(1903-1905)Caa>Taa	p.Q635*	TARS_uc010iup.1_Nonsense_Mutation_p.Q576*|TARS_uc011coc.2_Nonsense_Mutation_p.Q656*|TARS_uc003jhz.3_Nonsense_Mutation_p.Q531*|TARS_uc011cod.2_Nonsense_Mutation_p.Q514*	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	635					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGAATATGCCCAAAAGGTAAG	0.403000														13			6		0	0	1	0	0
EDNRA	1909	broad.mit.edu	37	4	148457138	148457138	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:148457138G>A	uc003iky.3	+	4	1387	c.857G>A	c.(856-858)aGg>aAg	p.R286K	EDNRA_uc011cid.2_Missense_Mutation_p.R61K|EDNRA_uc010ipg.2_Missense_Mutation_p.R177K|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	286					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity	p.R285T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TTGAACAGAAGGAATGGCAGC	0.468000														83			55		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389972	158389972	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:158389972G>A	uc010pii.2	-	0	685	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	229					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)					AGTGTGGAAGGAAACTGAAGT	0.448000														63			58		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5186196	5186196	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:5186196C>T	uc003jdl.3	+	4	933	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ADAMTS16_uc003jdk.1_Silent_p.F265F|ADAMTS16_uc003jdj.1_Silent_p.F265F	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	265					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						AAGACCTCTTCATCTTGCCAG	0.507000														162			99		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339194	19339194	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:19339194C>T	uc002nlz.3	+	7	2864	c.2765C>T	c.(2764-2766)cCc>cTc	p.P922L	NCAN_uc010ecc.1_Missense_Mutation_p.P486L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	922					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAGAGCAGTCCCCTAGGGAAA	0.632000														130			73		0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113140635	113140635	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:113140635A>T	uc001ecd.3	-	4	885	c.580T>A	c.(580-582)Ttt>Att	p.F194I	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_Missense_Mutation_p.F11I|ST7L_uc010owg.2_Intron|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Missense_Mutation_p.F177I|ST7L_uc001ece.3_Missense_Mutation_p.F194I|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Missense_Mutation_p.F129I|ST7L_uc001ech.3_Missense_Mutation_p.F177I|ST7L_uc001eci.3_Missense_Mutation_p.F194I|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Missense_Mutation_p.F177I	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	194					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGTGAAAAAGGTCTGATGG	0.363000														22			32		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158227293	158227293	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:158227293G>A	uc001frt.3	+	4	1499	c.966G>A	c.(964-966)agG>agA	p.R322R	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	322					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTTGGTTCAGGAAACGCTGGT	0.463000														203			42		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:178585775C>T	uc003mjw.3	-	5	1183	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607000														118			29		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371163	48371163	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:48371163A>C	uc001jex.3	+	1	793	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	ZNF488_uc021ppx.1_Missense_Mutation_p.K211Q	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TTCAACTCCCAAGCTTTTGGT	0.537000														8			49		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050055	36050055	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:36050055C>T	uc002oal.1	-	7	1124	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	365					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCACGCAGTTCTTACTGGCCA	0.627000														99			101		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165476271	165476271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:165476271C>T	uc002ucl.3	-	1	791	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	84					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGCATAGCTCAGGAAAAGGG	0.338000														33			33		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655763	46655763	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:46655763G>A	uc003bhh.3	-	0	3457	c.3457C>T	c.(3457-3459)Cac>Tac	p.H1153Y		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1153					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTATGCAGGTGAATGCCCGTG	0.512000														136			49		0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172518054	172518054	+	Missense_Mutation	SNP	C	T	T	rs150982426		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:172518054C>T	uc003mch.3	+	3	1191	c.872C>T	c.(871-873)cCt>cTt	p.P291L	CREBRF_uc003mcf.3_Missense_Mutation_p.P291L|CREBRF_uc003mcg.3_Missense_Mutation_p.P291L|CREBRF_uc011dfd.1_Missense_Mutation_p.P291L	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	291							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CCCGCTTTGCCTTTTAAAGAA	0.512000														45			32		0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207040734	207040734	+	Silent	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:207040734C>A	uc001her.3	+	3	428	c.384C>A	c.(382-384)gcC>gcA	p.A128A	IL20_uc009xby.3_Intron	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	128					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTCAGCATGCCCACATGACAT	0.408000														69			50		9.52127e-25	9.80187e-25	1	1	0
BPIFB4	149954	broad.mit.edu	37	20	31671623	31671623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:31671623G>A	uc010zue.2	+	2	635	c.620G>A	c.(619-621)gGt>gAt	p.G207D		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	207	Gly-rich.					cytoplasm|extracellular region	lipid binding										GGAGGAGGGGGTGTCCTGGGC	0.642000														45			43		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418793	20418793	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:20418793G>A	uc003suu.3	+	3	1213	c.508G>A	c.(508-510)Gga>Aga	p.G170R	ITGB8_uc011jyh.2_Missense_Mutation_p.G35R|ITGB8_uc003sut.3_Missense_Mutation_p.G170R	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	170	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.V169G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AAATTCCGTTGGAAACGATTT	0.348000														39			8		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94134754	94134754	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:94134754C>G	uc003kkx.2	-	17	2520	c.2520G>C	c.(2518-2520)ttG>ttC	p.L840F	MCTP1_uc003kkv.2_Missense_Mutation_p.L619F|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Missense_Mutation_p.L501F|MCTP1_uc003kku.2_Missense_Mutation_p.L356F	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	840					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTGATATTATCAAGAAGTAGT	0.383000														32			14		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700164	30700164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:30700164G>A	uc003xil.3	-	0	6370	c.6370C>T	c.(6370-6372)Ctt>Ttt	p.L2124F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2124										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTTTCCAAAGGCAAACATCT	0.343000														45			11		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028607	102028607	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:102028607C>T	uc021sdx.1	+	0	920	c.774C>T	c.(772-774)ttC>ttT	p.F258F	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	232					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCGCCTACTTCGAGCGTCTCT	0.632000														45			43		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3443794	3443794	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:3443794C>T	uc003ghc.3	+	0	69	c.66C>T	c.(64-66)ctC>ctT	p.L22L	HGFAC_uc010icw.3_Silent_p.L22L	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	22					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTCCTGCTGC	0.721000														30			39		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215821417	215821417	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:215821417C>T	uc002vew.3	-	41	6423	c.6203G>A	c.(6202-6204)gGc>gAc	p.G2068D	ABCA12_uc002vev.3_Missense_Mutation_p.G1750D|ABCA12_uc010zjn.2_Missense_Mutation_p.G995D	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2068					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)		AGATACAGCGCCTAGGTTGTT	0.373000														53			12		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62081062	62081062	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:62081062G>A	uc002sbm.4	-	0	217	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Silent_p.L39L|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_5'UTR	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	39					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						GCTGCCGCCAGGGCCTTTAAG	0.647000														30			37		0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59728274	59728274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:59728274C>T	uc003xtw.1	-	6	1236	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	339						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCAACAGGTTCACTGTAGCTC	0.493000														48			31		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20012290	20012290	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:20012290C>T	uc001umd.3	-	14	1188	c.977G>A	c.(976-978)aGa>aAa	p.R326K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R215K|TPTE2_uc001ume.3_Missense_Mutation_p.R249K|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_5'UTR	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	326	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGTCCCGGTTCttcctagaaa	0.338000														42			22		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511093	169511093	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:169511093G>A	uc001ggg.1	-	12	3380	c.3235C>T	c.(3235-3237)Ccc>Tcc	p.P1079S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1079	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGTCTGTGGGAAGAGATGTT	0.433000														190			76		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598363	175598363	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:175598363G>C	uc003ity.1	-	6	1296	c.793C>G	c.(793-795)Ctc>Gtc	p.L265V	GLRA3_uc003itz.1_Missense_Mutation_p.L265V	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	265					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	ACAATCAGGAGACTGGGAATG	0.453000														30			22		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532439	42532439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:42532439G>A	uc010dni.3	+	3	3430	c.3134G>A	c.(3133-3135)gGa>gAa	p.G1045E		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1045						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTCCCAGTGGAAGTTACTAT	0.458000									Schinzel-Giedion syndrome					21			9		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211155	45211155	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:45211155C>T	uc010xxd.2	+	5	1169	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	321										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCACGATGATCGTGCCCGTGC	0.652000														15			6		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853227	70853227	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:70853227G>A	uc003tvy.3	+	2	429	c.429G>A	c.(427-429)aaG>aaA	p.K143K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	143						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)				CCAGGTGTAAGGAGCTCAAGT	0.527000														37			35		0	0	1	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888379	37888379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:37888379G>A	uc022bgx.1	-	0	169	c.169C>T	c.(169-171)Cga>Tga	p.R57*	SLC25A51_uc004aaq.1_Intron|SLC25A51_uc004aar.1_Intron|DQ590189_uc004aat.2_5'Flank|SLC25A51_uc004aav.2_Nonsense_Mutation_p.R57*	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	Homo sapiens mitochondrial carrier triple repeat 1 (MCART1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	57					transport	integral to membrane|mitochondrial inner membrane		p.R57*(1)									AGCTGTTGTCGAAAGAGGACC	0.438000														55			21		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683514	159683514	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:159683514G>A	uc001ftw.3	-	1	580	c.476C>T	c.(475-477)tCc>tTc	p.S159F	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	159	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CCCACCGAAGGAATCCTGCTC	0.522000														259			292		0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102978824	102978824	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:102978824G>A	uc011mse.2	-	4	958	c.537C>T	c.(535-537)ttC>ttT	p.F179F	GLRA4_uc010nou.2_Silent_p.F179F	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	179						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGTCCATGGGGAAGTTCTTGA	0.507000														7			49		0	0	1	0	0
CMTM8	152189	broad.mit.edu	37	3	32409437	32409437	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:32409437C>T	uc003cex.3	+	2	689	c.395C>T	c.(394-396)cCt>cTt	p.P132L	CMTM8_uc010hfu.3_Missense_Mutation_p.P74L	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 8 (CMTM8), mRNA.	132	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TCCGTCTCCCCTGAGAGGGAC	0.582000														26			20		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479183	14479183	+	RNA	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:14479183C>T	uc010xai.2	-	2		c.381G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		CTTTTTCAATCATCTGCTCAG	0.532000														20			16		0	0	1	0	0
PPA2	27068	broad.mit.edu	37	4	106307755	106307755	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:106307755G>A	uc003hxl.3	-	9	928	c.908C>T	c.(907-909)aCt>aTt	p.T303I	PPA2_uc003hxn.3_Missense_Mutation_p.T274I|PPA2_uc003hxo.3_Missense_Mutation_p.T201I|PPA2_uc003hxp.3_Missense_Mutation_p.T137I|PPA2_uc003hxq.3_Missense_Mutation_p.T210I	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	303					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TTCCTCTTGAGTGCAACGGAA	0.358000														13			11		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391158	391158	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:391158G>A	uc003bot.3	+	9	1607	c.965G>A	c.(964-966)gGa>gAa	p.G322E	CHL1_uc003bou.3_Missense_Mutation_p.G306E|CHL1_uc003bow.2_Missense_Mutation_p.G306E|CHL1_uc011asi.2_Missense_Mutation_p.G322E	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	306	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGGACAAAGGAAATTATCGC	0.413000														34			26		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756398	54756398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:54756398G>A	uc010yer.1	-	9	1573	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.P497S|LILRB5_uc002qez.3_Missense_Mutation_p.P397S|LILRB5_uc002qex.3_Missense_Mutation_p.P496S|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	496					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.P496T(1)|p.P488S(1)|p.P496S(1)|p.P488T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCCCTGCAGGACGGTAGAAA	0.597000														42			34		0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98520451	98520451	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:98520451G>A	uc003dte.3	-	13	2076	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	DCBLD2_uc003dtd.3_Silent_p.D571D	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	571					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TACCTGCCCGGTCCCAGTAAG	0.458000														11			8		0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702139	156702140	+	Missense_Mutation	DNP	CC	TT	TT	rs147288369		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:156702139_156702140CC>TT	uc001fpu.3	+	2	937_938	c.303_304CC>TT	c.(301-306)acccgg>acTTgg	p.R102W	RRNAD1_uc001fpv.3_Missense_Mutation_p.R102W	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	102						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGGCCTTTACCCGGATGCCTGG	0.594000														90			8		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268779	28268779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:28268779C>T	uc003nky.3	+	6	1568	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	PGBD1_uc003nkz.3_Missense_Mutation_p.S383L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	383					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTAAAGGTATCATGTTTCCCA	0.433000														101			34		0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201796153	201796153	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:201796153A>T	uc002uwr.3	-	10	1097	c.826T>A	c.(826-828)Ttg>Atg	p.L276M		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	276					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|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.L276L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						ACCTTGCTCAATAAGTTACGC	0.338000														35			10		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24207384	24207384	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:24207384C>T	uc003xdy.3	+	18	2081	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S353S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	666					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			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)		CAGACTTCTCCATTGTGGTTG	0.493000														95			75		0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398403	38398403	+	Silent	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:38398403A>G	uc003tgr.2	-	1	167	c.64T>C	c.(64-66)Ttg>Ctg	p.L22L	LOC100506776_uc003tgp.2_Intron					RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor;																		CTCCCTTCCAAGTTGGAAGAT	0.433000														56			44		0	0	1	0	0
UBA5	79876	broad.mit.edu	37	3	132384834	132384834	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:132384834C>T	uc003epa.4	+	2	456	c.214C>T	c.(214-216)Cgt>Tgt	p.R72C	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Missense_Mutation_p.R16C|UBA5_uc003epb.4_Missense_Mutation_p.R16C	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	72					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|UFM1 activating enzyme activity|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.R72H(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACAGAAAATCCGTACCTTTGC	0.333000														17			11		0	0	1	0	0
CALB2	794	broad.mit.edu	37	16	71418718	71418718	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:71418718G>A	uc002faa.4	+	8	686	c.606G>A	c.(604-606)gcG>gcA	p.A202A	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Intron	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	202	EF-hand 5.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AGTTTAACGCGATCTTCACAT	0.522000														137			45		0	0	1	0	0
STK4	6789	broad.mit.edu	37	20	43607151	43607151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:43607151C>T	uc002xnb.3	+	2	274	c.184C>T	c.(184-186)Cct>Tct	p.P62S	STK4_uc010ggx.3_Missense_Mutation_p.P62S|STK4_uc010ggy.3_Missense_Mutation_p.P62S|STK4_uc010ggw.1_Missense_Mutation_p.P62S	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	62	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.V61F(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TAAGCAAGTTCCTGTGGAATC	0.408000														65			29		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691655	153691655	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:153691655G>A	uc003imy.3	-	1	1323	c.502C>T	c.(502-504)Cct>Tct	p.P168S	TIGD4_uc021xtf.1_Missense_Mutation_p.P168S	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	168					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AAATAATAAGGAAGTACATTT	0.348000														59			7		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433458	140433458	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140433458G>A	uc003lik.1	+	0	2480	c.2403G>A	c.(2401-2403)agG>agA	p.R801R		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	801					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D800E(1)		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)			ATTCTGATAGGAATAAGTCTC	0.438000														72			28		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679211	87679211	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:87679211A>C	uc003ydx.3	-	5	842	c.794T>G	c.(793-795)cTt>cGt	p.L265R	CNGB3_uc010maj.3_Missense_Mutation_p.L127R	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	265					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						CATATCATAAAGGTAGATGAT	0.423000														36			22		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408877	47408878	+	Missense_Mutation	DNP	AA	TC	TC			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:47408877_47408878AA>TC	uc003gxh.3	+	7	1388_1389	c.1014_1015AA>TC	c.(1012-1017)aaaaag>aaTCag	p.338_339KK>NQ	GABRB1_uc011bze.2_Missense_Mutation_p.268_269KK>NQ	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	338					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCCTCAGAAAAAGGGAGCTAG	0.381000														62			12		0	0	1	0	0
RASSF10	644943	broad.mit.edu	37	11	13032416	13032416	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:13032416C>T	uc021qdz.1	+	0	1447	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G		NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA.	431					signal transduction										Epithelial(150;0.00399)		AGCTACAGGGCCTTCTGCAAA	0.612000														27			13		0	0	1	0	0
MAP1LC3B	81631	broad.mit.edu	37	16	87432463	87432463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:87432463C>T	uc002fjx.3	+	1	316	c.83C>T	c.(82-84)cCa>cTa	p.P28L	MAP1LC3B_uc010chs.3_Non-coding_Transcript	NM_022818	NP_073729	Q9GZQ8	MLP3B_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 beta (MAP1LC3B), mRNA.	28					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		GAGCAGCATCCAACCAAAATC	0.483000														41			46		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41131445	41131445	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:41131445C>T	uc010whg.2	-	2	614	c.268G>A	c.(268-270)Gga>Aga	p.G90R	AARSD1_uc002icd.3_Missense_Mutation_p.G29R|AARSD1_uc002ich.3_Missense_Mutation_p.G52R|AARSD1_uc010whh.2_Missense_Mutation_p.G90R|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)		AACTCCACTCCATCGGCATTC	0.512000														294			73		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578460	44578460	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:44578460C>T	uc003tlb.3	-	1	1592	c.1536G>A	c.(1534-1536)caG>caA	p.Q512Q	NPC1L1_uc011kbw.2_Silent_p.Q512Q|NPC1L1_uc003tlc.3_Silent_p.Q512Q|NPC1L1_uc003tld.3_Silent_p.Q512Q	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	512					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTTGGGAGGTCTGCCCCATCA	0.592000														85			61		0	0	1	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4491833	4491833	+	Splice_Site	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:4491833G>T	uc002mao.3	+	6	771	c.678_splice	c.e6+1	p.K226_splice	HDGFRP2_uc002map.3_Splice_Site_p.K226_splice|HDGFRP2_uc010dtz.1_Splice_Site	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	226	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										GAAAAAAAAGGTAGCGTGCAC	0.632000														56			31		8.88839e-20	9.08571e-20	1	1	0
PCSK6	5046	broad.mit.edu	37	15	101872132	101872132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:101872132G>A	uc002bxa.2	-	14	2274	c.1960C>T	c.(1960-1962)Cca>Tca	p.P654S	PCSK6_uc010bpd.3_Missense_Mutation_p.P451S|PCSK6_uc002bwy.3_Missense_Mutation_p.P654S|PCSK6_uc010bpe.3_Missense_Mutation_p.P651S|PCSK6_uc002bxb.2_Missense_Mutation_p.P654S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	655					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCCAGCTCTGGGGCTGAGAGC	0.562000														31			7		0	0	1	0	0
HES6	55502	broad.mit.edu	37	2	239147677	239147677	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:239147677G>A	uc002vxz.3	-	3	601	c.466C>T	c.(466-468)Cct>Tct	p.P156S	HES6_uc002vya.3_Missense_Mutation_p.P154S|HES6_uc002vyb.2_3'UTR	NM_018645	NP_061115	Q96HZ4	HES6_HUMAN	Homo sapiens hairy and enhancer of split 6 (Drosophila) (HES6), transcript variant 1, mRNA.	156					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTCCGTCCAGGGGCTCTAGGT	0.716000														18			11		0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51994626	51994626	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:51994626G>A	uc003dcc.2	-	2	790	c.69C>T	c.(67-69)tcC>tcT	p.S23S	PCBP4_uc003dcb.2_Silent_p.S23S|PCBP4_uc003dcf.2_Silent_p.S57S|PCBP4_uc003dce.2_Silent_p.S57S|PCBP4_uc003dcg.2_Silent_p.S23S|PCBP4_uc003dcj.2_Silent_p.S57S|PCBP4_uc003dck.2_Silent_p.S57S|PCBP4_uc003dch.2_Silent_p.S57S|PCBP4_uc003dci.2_5'UTR			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	57	KH 1.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTCAGGGCAGGAGCCCTCGG	0.597000														44			18		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738853	176738853	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:176738853C>T	uc001gkz.3	+	15	5598	c.4434C>T	c.(4432-4434)tcC>tcT	p.S1478S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1478	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAACTTCTCCTGCTCAGAGG	0.522000														85			78		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77474697	77474698	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:77474697_77474698CC>AT	uc002lnh.2	+	7	1384_1385	c.1237_1238CC>AT	c.(1237-1239)ccc>ATc	p.P413I	CTDP1_uc002lni.2_Missense_Mutation_p.P413I|CTDP1_uc010drd.2_Missense_Mutation_p.P413I|CTDP1_uc021ult.1_Missense_Mutation_p.P294I	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	413					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGCCCAGGCCCCCACCAGCAGC	0.752000														9			8		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23524557	23524557	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:23524557G>A	uc001wil.3	-	2	467	c.207C>T	c.(205-207)caC>caT	p.H69H	CDH24_uc010akf.3_Silent_p.H69H|CDH24_uc001win.3_Silent_p.H69H	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	69	Cadherin 1.				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	p.L68L(1)		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)		CAACATCCGAGTGCAGCTGCA	0.567000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			5		0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117654930	117654930	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:117654930G>A	uc001egz.2	-	5	2328	c.1740C>T	c.(1738-1740)ctC>ctT	p.L580L	TRIM45_uc009whe.2_Silent_p.L562L	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	580						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AAACCCATCAGAGAGCCACAG	0.478000														22			32		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20785055	20785055	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:20785055C>T	uc010kuh.3	+	25	3660	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	ABCB5_uc003suw.4_Silent_p.L696L	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	696					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGAAGGTCTCCCTGAGGTAA	0.408000														30			26		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44925831	44925831	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:44925831C>T	uc001ztx.3	-	7	1638	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	SPG11_uc010ueh.2_Missense_Mutation_p.G536E|SPG11_uc010uei.2_Missense_Mutation_p.G536E|SPG11_uc001zua.1_Missense_Mutation_p.G536E	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	536					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)		ATTTTCTATCCCGGCCTGAAA	0.303000														17			9		0	0	1	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31821753	31821753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:31821753G>A	uc001bsp.1	+	6	632	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	ZCCHC17_uc001bsq.1_Missense_Mutation_p.E158K|ZCCHC17_uc010ogf.1_Missense_Mutation_p.E168K|ZCCHC17_uc009vtu.1_Missense_Mutation_p.E142K|ZCCHC17_uc001bsr.1_Missense_Mutation_p.E166K|ZCCHC17_uc009vtv.1_Missense_Mutation_p.E142K	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	166	Poly-Glu.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		AGAGGAAAAGGAAGAGGCAAA	0.403000														40			18		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160999712	160999712	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:160999712C>T	uc003qtl.3	-	27	4434	c.4314G>A	c.(4312-4314)agG>agA	p.R1438R		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3946	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATCTGGATTCCTGCAGTAGT	0.502000														40			12		0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619601	37619601	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:37619601C>A	uc002ofl.3	+	4	1923	c.1708C>A	c.(1708-1710)Cgt>Agt	p.R570S		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCTTTATTCGTGGTTCACA	0.438000														27			36		2.05212e-20	2.10192e-20	1	1	0
MYH11	4629	broad.mit.edu	37	16	15851849	15851849	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:15851849G>A	uc002ddx.3	-	13	1538	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	MYH11_uc002ddv.3_Silent_p.S477S|MYH11_uc002ddw.3_Silent_p.S470S|MYH11_uc002ddy.3_Silent_p.S470S|MYH11_uc010bvg.3_Silent_p.S302S|MYH11_uc002dea.1_Silent_p.S176S	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	470	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGCTCGAAGGAGTTCACCT	0.597000			T	CBFB	AML									75			22		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					29			35		0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1643071	1643071	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:1643071G>A	uc021xkk.1	-	4	1344	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	FAM53A_uc010ibw.3_3'UTR|FAM53A_uc021xkl.1_Silent_p.V382V	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	382						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCCGGGGGAAGACGCCCTCCT	0.701000														89			30		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175096	112175096	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:112175096A>T	uc003kpz.4	+	16	3998	c.3805A>T	c.(3805-3807)Ata>Tta	p.I1269L	APC_uc011cvt.2_Missense_Mutation_p.I1251L|APC_uc003kpy.4_Missense_Mutation_p.I1269L|APC_uc010jbz.3_Missense_Mutation_p.I986L|APC_uc010jca.3_Missense_Mutation_p.I569L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1269	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.I1269fs*19(2)|p.K1192fs*3(1)|p.?(1)|p.I1269fs*6(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGATACTCCAATATGTTTTTC	0.378000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				30			18		0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39579051	39579051	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:39579051G>A	uc002hwp.1	-	2	758	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.687000														39			6		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582578	120582578	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:120582578G>A	uc001txo.3	-	40	5230	c.5217C>T	c.(5215-5217)atC>atT	p.I1739I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1739					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)					CTGTAGCCACGATTTCTGGCA	0.507000														149			122		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78947496	78947496	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:78947496G>A	uc004akc.2	+	32	5175	c.4637G>A	c.(4636-4638)gGa>gAa	p.G1546E		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	714					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTCCAGCTAGGAAAAGAGTGC	0.537000														5			3		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13914711	13914711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:13914711G>A	uc003jfd.2	-	9	1280	c.1238C>T	c.(1237-1239)aCc>aTc	p.T413I	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	413	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)					TCCATTATTGGTAATATAGGC	0.363000									Kartagener syndrome					46			28		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149582207	149582208	+	Missense_Mutation	DNP	CC	TT	TT	rs146367975		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:149582207_149582208CC>TT	uc003lrr.3	+	7	1399_1400	c.1028_1029CC>TT	c.(1027-1029)tcc>tTT	p.S343F		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	343						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	p.S343F(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GCCATCTTCTCCGTGCTGGGCT	0.599000														37			16		0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64422134	64422134	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:64422134C>T	uc002amv.3	+	8	957	c.827C>T	c.(826-828)aCc>aTc	p.T276I	SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Missense_Mutation_p.T276I|SNX1_uc002amx.3_Missense_Mutation_p.T211I|SNX1_uc010bgw.3_Missense_Mutation_p.T178I	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	276					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	p.T276T(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCGTGGGTACCCAGACATTG	0.473000														64			38		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75840603	75840603	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:75840603C>T	uc021zbv.1	-	34	6067	c.6032G>A	c.(6031-6033)gGa>gAa	p.G2011E	COL12A1_uc021zbw.1_Missense_Mutation_p.G847E|COL12A1_uc003phs.3_Missense_Mutation_p.G2011E|COL12A1_uc003pht.3_Missense_Mutation_p.G847E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2011	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATTTCCCTCTCCATCCGAGTA	0.552000														64			19		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140077625	140077625	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:140077625G>A	uc004clr.1	-	5	1311	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	ANAPC2_uc004clq.1_Missense_Mutation_p.S269F	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GATGACCATGGAAGGGTCCAG	0.622000														61			39		0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562503	28562503	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:28562503T>G	uc003ceh.3	+	8	973	c.805T>G	c.(805-807)Tta>Gta	p.L269V	ZCWPW2_uc003cei.3_Missense_Mutation_p.L269V|ZCWPW2_uc010hfo.3_Missense_Mutation_p.L74V	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	269							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GACGGAAGTTTTACTAAAAGA	0.378000														27			8		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756403	248756403	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:248756403G>A	uc010pzn.2	-	0	667	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TGGATGGTGAGGATGATATAG	0.458000														114			33		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629874	47629874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:47629874C>T	uc001rpq.3	+	1	1553	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	FAM113B_uc001rpn.3_Missense_Mutation_p.S343F|FAM113B_uc021qxi.1_Missense_Mutation_p.S343F	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	343	Pro-rich.						hydrolase activity	p.S343F(2)		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)					GCCTGTTTTTCCTCAGACCAT	0.542000														141			84		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20977101	20977101	+	RNA	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:20977101G>A	uc002zsv.3	-	4		c.1434C>T								Homo sapiens, clone IMAGE:5171202, mRNA.																		CCAGGCTGCCGAAAATGCTAC	0.602000														15			3		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151827028	151827028	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:151827028G>A	uc010ipj.3	-	12	1961	c.1717C>T	c.(1717-1719)Ctt>Ttt	p.L573F	LRBA_uc003ilu.4_Missense_Mutation_p.L573F|LRBA_uc010ipk.1_Missense_Mutation_p.L492F	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	573						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGATTAAGAAGAACGTGATCA	0.383000														39			33		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173505	5173505	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:5173505G>A	uc010qyy.2	-	0	95	c.95C>T	c.(94-96)cCa>cTa	p.P32L		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	32					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCACAGAATGGAATCCCAAT	0.448000														30			21		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478159	134478159	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:134478159C>G	uc003yuk.2	-	5	1310	c.481G>C	c.(481-483)Gac>Cac	p.D161H	ST3GAL1_uc003yum.2_Missense_Mutation_p.D161H	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	161					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TCGTGACTGTCTATCTCAGGC	0.612000														86			42		0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51410300	51410300	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:51410300C>T	uc002pua.1	-	4	655	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Missense_Mutation_p.G124S|KLK4_uc002puc.1_Non-coding_Transcript	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	219	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GACACAAGGCCCTGCAAGTAC	0.532000														67			25		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520787	131520787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:131520787C>T	uc021voy.1	+	0	1142	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	FAM123C_uc002trw.2_Missense_Mutation_p.S381F|FAM123C_uc010fmv.2_Missense_Mutation_p.S381F|FAM123C_uc010fms.1_Missense_Mutation_p.S381F|FAM123C_uc010fmt.1_Missense_Mutation_p.S381F|FAM123C_uc010fmu.1_Missense_Mutation_p.S381F	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	381								p.V380M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GAATCCGTGTCCACAAGTGAC	0.637000														30			37		0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7476169	7476169	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:7476169A>T	uc002gho.2	+	11	2573	c.10A>T	c.(10-12)Agc>Tgc	p.S4C	EIF4A1_uc002ghr.1_Missense_Mutation_p.S4C|SNORA48_uc002ghs.1_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	4					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CATGTCTGCGAGCCAGGATTC	0.617000														146			60		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319761	31319761	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:31319761C>A	uc010dmg.1	+	10	2448	c.2393C>A	c.(2392-2394)aCc>aAc	p.T798N	ASXL3_uc002kxq.2_Missense_Mutation_p.T505N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGAACCTTACCTCCCAGCAG	0.473000														21			9		0.000978159	0.000982037	1	1	0
LENG8	114823	broad.mit.edu	37	19	54965730	54965730	+	Missense_Mutation	SNP	C	T	T	rs143651422		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:54965730C>T	uc002qfv.1	+	4	581	c.437C>T	c.(436-438)cCt>cTt	p.P146L	LENG8_uc002qfw.2_Missense_Mutation_p.P183L			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	146							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AACAGTGGCCCTCAGCCTGGG	0.677000														15			17		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881793	38881793	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:38881793G>A	uc003jln.2	+	3	747	c.345G>A	c.(343-345)aaG>aaA	p.K115K	OSMR_uc003jlm.2_Silent_p.K115K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	115					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.I114L(1)		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)					TAAGAATAAAGAGTTTGGTGG	0.488000														49			41		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141559346	141559346	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:141559346G>A	uc003yvn.3	-	11	1496	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	EIF2C2_uc010meo.3_Silent_p.I485I|EIF2C2_uc010men.3_Silent_p.I408I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	485					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	p.P484A(1)		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)			GCTGGCCCTGGATGGGCATGC	0.622000														26			26		0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111434035	111434035	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:111434035G>A	uc001dzw.3	+	2	176	c.5G>A	c.(4-6)gGc>gAc	p.G2D	CD53_uc001dzx.3_Missense_Mutation_p.G2D|CD53_uc010owa.2_Missense_Mutation_p.G2D	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	2					signal transduction	integral to membrane|plasma membrane		p.M1I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CACGGCATGGGCATGAGTAGC	0.433000														15			15		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227907859	227907859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:227907859G>A	uc021vxr.1	-	34	3432	c.3331C>T	c.(3331-3333)Caa>Taa	p.Q1111*	COL4A4_uc021vxs.1_Nonsense_Mutation_p.Q1111*	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1111	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGGCCCTTGAATACCAGGC	0.527000														25			10		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346081	131346081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:131346081G>A	uc004bvl.4	+	15	2168	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	SPTAN1_uc011mbg.2_Missense_Mutation_p.E676K|SPTAN1_uc011mbh.2_Missense_Mutation_p.E688K|SPTAN1_uc004bvm.4_Missense_Mutation_p.E676K|SPTAN1_uc004bvn.4_Missense_Mutation_p.E676K	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	676					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAAGCTTCGTGAAGCCAACCA	0.398000														43			11		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207412196	207412196	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:207412196G>A	uc002vbq.3	+	6	987	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	255					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACCTTGGCAGGACAGTATTCT	0.348000														42			7		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039067	29039067	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:29039067G>A	uc002kws.3	+	4	553	c.444G>A	c.(442-444)ttG>ttA	p.L148L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	148	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTAAAATTTTGGATATTAATG	0.353000														13			7		0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24301982	24301982	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:24301982A>G	uc003ndx.3	-	3	820	c.518T>C	c.(517-519)gTc>gCc	p.V173A	DCDC2_uc003ndy.3_Missense_Mutation_p.V173A	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	173	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTTTTCTGTGACCATTTGTAG	0.423000														225			90		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129950593	129950593	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:129950593T>C	uc003qbr.3	-	4	780	c.691A>G	c.(691-693)Aac>Gac	p.N231D	ARHGAP18_uc011ebw.2_Missense_Mutation_p.N231D|ARHGAP18_uc021zfe.1_Missense_Mutation_p.N228D	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	231					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ACCTCCAGGTTGATGTCTGTT	0.527000														53			57		0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26902186	26902186	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:26902186G>A	uc002hbp.3	-	2	424	c.279C>T	c.(277-279)ccC>ccT	p.P93P		NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	93					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TTCGGACGAAGGGAACACCAT	0.517000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			27		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85411370	85411370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:85411370C>T	uc002ble.3	+	13	5574	c.5407C>T	c.(5407-5409)Cct>Tct	p.P1803S	ALPK3_uc010upc.2_Missense_Mutation_p.P104S	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1803	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.P1803L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAGCTGCTTCCCTGCCCTGCT	0.652000														155			41		0	0	1	0	0
ANP32D	23519	broad.mit.edu	37	12	48866728	48866728	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:48866728A>G	uc010slt.2	+	0	281	c.281A>G	c.(280-282)aAt>aGt	p.N94S		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	94										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						ATACATCTAAATTTAAGTGGC	0.403000														46			38		0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450598	105450598	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:105450598A>T	uc022cca.1	+	0	1173	c.1173A>T	c.(1171-1173)gaA>gaT	p.E391D	MUM1L1_uc004emg.2_Missense_Mutation_p.E391D|MUM1L1_uc004emf.2_Missense_Mutation_p.E391D	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	391										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCGTTTGAAACAGGAATGA	0.368000														5			23		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67234605	67234605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:67234605C>T	uc002esa.3	+	6	761	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	ELMO3_uc002esb.3_Missense_Mutation_p.P223S|ELMO3_uc002esc.3_Missense_Mutation_p.P74S	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	187					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)		CTCCGTGCCTCCCCTGGCCCT	0.642000														55			23		0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75145485	75145485	+	RNA	SNP	T	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:75145485T>A	uc022agi.1	-	2		c.680A>T			PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA.											lung(1)	1						CTCATCAGGGTCCAGTTGCCG	0.483000														58			45		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547373	19547373	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:19547373C>T	uc002dgl.4	+	3	629	c.382C>T	c.(382-384)Cca>Tca	p.P128S	CCP110_uc002dgk.4_Missense_Mutation_p.P128S	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	128	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAATAGCTTTCCAAGCCATAC	0.393000														24			22		0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106889	121106889	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:121106889C>T	uc002tmn.2	+	1	709	c.663C>T	c.(661-663)ctC>ctT	p.L221L		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	221					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GGGTGGACCTCAAGCGCAGCG	0.627000														73			88		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3669280	3669280	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:3669280C>T	uc001akv.2	+	0	316	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	79								p.R79R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCGGGACGCCCGGTGCCCAGA	0.632000														35			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091430	9091430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:9091430G>A	uc002mkp.3	-	0	589	c.385C>T	c.(385-387)Cca>Tca	p.P129S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	129	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S128S(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						CTGGTCCTTGGGGAACTCAAT	0.498000														67			44		0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1327743	1327744	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:1327743_1327744CC>TT	uc004cpk.2	-	1	139_140	c.137_138GG>AA	c.(136-138)tgg>tAA	p.W46*	CRLF2_uc022brt.1_Nonsense_Mutation_p.W46*|CRLF2_uc004cpl.2_Intron|CRLF2_uc022brs.1_Nonsense_Mutation_p.W46*	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	46						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGCTGGCATTCCATGTCACCTG	0.505000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									59			89		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9754472	9754472	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:9754472G>A	uc021wst.1	+	8	676	c.505G>A	c.(505-507)Gac>Aac	p.D169N	CPNE9_uc003bsd.3_Missense_Mutation_p.D168N	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	169	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGGGAAATCAGACCCCTTCCT	0.542000														76			31		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21383446	21383446	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:21383446G>A	uc002zud.3	-	4	1874	c.1806C>T	c.(1804-1806)tcC>tcT	p.S602S	SLC7A4_uc002zue.3_Silent_p.S602S	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	602					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTAGTGTGTGGAGTTCAGCC	0.612000														30			5		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58697121	58697121	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:58697121G>A	uc002qrq.1	+	2	535	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.E26K|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	26	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.P25Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TTTTACCCCGGAAGAGTGGGG	0.507000														53			66		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160708728	160708728	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:160708728A>C	uc002ubb.4	-	20	2941	c.2867T>G	c.(2866-2868)aTt>aGt	p.I956S	LY75-CD302_uc010fos.3_Missense_Mutation_p.I956S|LY75-CD302_uc002ubc.4_Missense_Mutation_p.I956S	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	956					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CTGAAAAGGAATCCATTGCTC	0.378000														16			25		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718722	42718722	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:42718722G>A	uc021xxv.1	+	9	1271	c.1134G>A	c.(1132-1134)gaG>gaA	p.E378E	GHR_uc003jmt.3_Silent_p.E371E|GHR_uc003jmu.3_Silent_p.E371E|GHR_uc003jmv.2_Silent_p.E371E|GHR_uc021xxw.1_Silent_p.E371E|GHR_uc021xxx.1_Silent_p.E371E|GHR_uc021xxy.1_Silent_p.E371E|GHR_uc021xxz.1_Silent_p.E371E|GHR_uc021xya.1_Silent_p.E371E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.E184E|GHR_uc021xyd.1_Silent_p.E349E	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	371					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGACCATGAGAAATCACATA	0.438000														86			67		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18478005	18478005	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:18478005C>T	uc001rdt.3	+	7	1361	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.F415F|PIK3C2G_uc010sic.2_Silent_p.F193F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	415					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)				AATATGACTTCCACCTGAAAT	0.299000														2			4		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79170756	79170756	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:79170756C>T	uc002jzp.1	-	13	1956	c.1756G>A	c.(1756-1758)Gcc>Acc	p.A586T	AZI1_uc002jzm.1_Missense_Mutation_p.A13T|AZI1_uc002jzn.1_Missense_Mutation_p.A583T|AZI1_uc002jzo.1_Missense_Mutation_p.A583T|AZI1_uc010wum.1_Missense_Mutation_p.A586T|AZI1_uc002jzq.3_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	586					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCAGCATGGCCTGCTTCTTC	0.687000														12			4		0	0	1	0	0
COBRA1	25920	broad.mit.edu	37	9	140151387	140151387	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:140151387G>A	uc004cmm.4	+	3	681	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	160					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CTTCGGGGACGAGGTTTCCCC	0.552000														40			12		0	0	1	0	0
MSMB	4477	broad.mit.edu	37	10	51562362	51562363	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:51562362_51562363CC>TT	uc001jiq.3	+	3	339_340	c.307_308CC>TT	c.(307-309)cca>TTa	p.P103L	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Nonsense_Mutation_p.Q68*|NCOA4_uc009xon.3_5'Flank|NCOA4_uc010qhd.2_5'Flank|NCOA4_uc001jis.4_5'Flank|NCOA4_uc010qhe.2_5'Flank|NCOA4_uc010qhf.2_5'Flank	NM_002443	NP_002434	P08118	MSMB_HUMAN	Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA.	103						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						GAAGAAGGACCCAAAAAAGACC	0.465000														26			59		0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320086	80320086	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:80320086C>T	uc002keq.3	+	1	370	c.60C>T	c.(58-60)tcC>tcT	p.S20S	TEX19_uc021ufp.1_Silent_p.S20S	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	20						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						TCTACGCCTCCTGGATGTATC	0.547000														132			41		0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17034933	17034934	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:17034933_17034934GG>AT	uc002gqv.2	+	4	511_512	c.422_423GG>AT	c.(421-423)tgg>tAT	p.W141Y	MPRIP_uc002gqu.2_Missense_Mutation_p.W141Y	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	141	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTCCCAGGTGGCTGGAGATGC	0.584000														29			25		0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103055064	103055064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:103055064G>A	uc004bap.1	+	13	2737	c.2525G>A	c.(2524-2526)gGa>gAa	p.G842E	INVS_uc011lve.1_Missense_Mutation_p.G746E|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.G746E|INVS_uc010mtb.1_Missense_Mutation_p.G516E	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	842					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AAGCTCACAGGAGGGCTCTAT	0.572000														41			16		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590492	125590492	+	Missense_Mutation	SNP	C	T	T	rs111651064	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:125590492C>T	uc010inw.3	-	3	4978	c.3940G>A	c.(3940-3942)Ggg>Agg	p.G1314R	ANKRD50_uc011cgo.2_Missense_Mutation_p.G1135R	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1314										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCAGCAGTCCCGGATTTGGCT	0.408000														104			58		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846815	55846815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:55846815C>T	uc001sgz.1	+	0	818	c.818C>T	c.(817-819)tCa>tTa	p.S273L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AAAGGAGTTTCAGTTCTTACT	0.418000														49			19		0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54975866	54975866	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:54975866C>T	uc001sgg.2	-	4	468	c.297G>A	c.(295-297)gaG>gaA	p.E99E		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA.	99					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	p.G98V(1)		lung(2)	2						CCTCAGGTTCCTCTCCTTGCT	0.592000														34			18		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229307	3229307	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:3229307C>T	uc004crg.4	-	6	7094	c.6937G>A	c.(6937-6939)Gaa>Aaa	p.E2313K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2313	Ig-like C2-type 7.					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)				ATCCCCACTTCGTTAAAGTAG	0.552000														12			122		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863875	55863875	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:55863875C>T	uc010spn.2	-	0	48	c.48G>A	c.(46-48)acG>acA	p.T16T		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GAGAATTATCCGTCAGTCCCA	0.353000														27			15		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046872	76046872	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:76046872C>T	uc002jud.2	+	3	2329	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	TNRC6C_uc002juf.2_Missense_Mutation_p.P577S|TNRC6C_uc002jue.2_Missense_Mutation_p.P577S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	577	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCCTCCAAAGCCCAAATCCCA	0.562000														35			39		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196794654	196794654	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:196794654G>A	uc001gtn.3	+	1	220	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	36	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCTATATGATGAAGAAAAATA	0.294000														45			15		0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687339	151687339	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:151687339C>A	uc003qoh.3	-	2	997	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ACGCGACTTTCTCCCTGTTGG	0.562000														74			36		2.42023e-17	2.47147e-17	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140751263	140751263	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140751263C>T	uc003ljw.2	+	0	1302	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S434S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L434I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCTCCTCCAGCAAGACCA	0.542000														114			98		0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992581	67992581	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:67992581C>T	uc002lkr.1	+	1	993	c.677C>T	c.(676-678)cCt>cTt	p.P226L	SOCS6_uc010dqq.2_Missense_Mutation_p.P226L|SOCS6_uc021ulj.1_Missense_Mutation_p.P226L	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	226					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TATACTGTGCCTTTAGATGAG	0.498000														42			19		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57033253	57033253	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:57033253C>T	uc003pdm.1	+	14	3396	c.3172C>T	c.(3172-3174)Ctt>Ttt	p.L1058F	ZNF451_uc003pdn.1_Missense_Mutation_p.L1010F|BC032020_uc003pdq.1_Intron	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	1058					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TAGAAGAAGTCTTGAGGAAAT	0.328000														48			15		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3007612	3007612	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:3007612C>T	uc022brz.1	+	6	1042	c.906C>T	c.(904-906)ttC>ttT	p.F302F	ARSF_uc004cre.2_Silent_p.F302F|ARSF_uc004crf.2_Silent_p.F302F	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	302						extracellular region	arylsulfatase activity|metal ion binding	p.D301N(1)		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)				CGGACGATTTCACTGGCACCA	0.468000														10			83		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44083488	44083488	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:44083488C>T	uc001cjr.3	+	24	4617	c.4277C>T	c.(4276-4278)cCc>cTc	p.P1426L	PTPRF_uc001cjs.3_Missense_Mutation_p.P1417L|PTPRF_uc001cju.3_Missense_Mutation_p.P815L|PTPRF_uc009vwt.3_Missense_Mutation_p.P986L|PTPRF_uc001cjv.3_Missense_Mutation_p.P897L|PTPRF_uc001cjw.3_Missense_Mutation_p.P652L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1426	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGCAGGGCCCCCTGCCCGAG	0.592000														27			18		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20689753	20689753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:20689753G>A	uc010kuh.3	+	11	1552	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	623	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAGGTTATATGATCCGGATGA	0.493000														26			22		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601940	43601940	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:43601940C>T	uc001jal.3	+	4	1174	c.984C>T	c.(982-984)acC>acT	p.T328T	RET_uc001jak.1_Silent_p.T328T|RET_uc010qez.1_Silent_p.T74T	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	328					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)	CCCAGCAGACCTTCCGGGTGG	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					8			15		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125094666	125094666	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:125094666G>A	uc003yqw.3	+	32	4564	c.4358G>A	c.(4357-4359)cGa>cAa	p.R1453Q	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1453						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)			AGCAAACACCGAGCCATCTGT	0.498000														134			82		0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30676364	30676364	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:30676364A>T	uc002dzd.4	+	2	275	c.12A>T	c.(10-12)aaA>aaT	p.K4N	FBRS_uc002dzc.4_Intron	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	4										ovary(1)	1			Colorectal(24;0.103)			AGTTTGAGAAATATCCAGGAA	0.567000														19			5		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90049426	90049426	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:90049426C>T	uc003kju.3	+	53	11253	c.11157C>T	c.(11155-11157)atC>atT	p.I3719I	GPR98_uc003kjt.3_Silent_p.I1425I|GPR98_uc003kjv.3_Silent_p.I1319I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3719	Calx-beta 24.				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)		TGTCAACAATCACTCTAACTA	0.338000														68			34		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52290999	52290999	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:52290999G>A	uc001ctc.4	-	7	1522	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	NRD1_uc009vzb.3_Silent_p.S95S|NRD1_uc001cte.3_Silent_p.S268S|NRD1_uc001ctd.4_Silent_p.S332S|NRD1_uc001ctf.2_Silent_p.S332S|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Silent_p.S200S	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	331					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GTCTAGCAAGGCTTCCAAACA	0.299000														35			9		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221732	55221732	+	RNA	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:55221732C>T	uc002qgs.1	+	0		c.2132C>T			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GGTGGGGGTCCCAAGGGAGGG	0.652000														11			3		0	0	1	0	0
JOSD2	126119	broad.mit.edu	37	19	51009680	51009680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:51009680G>A	uc002psn.1	-	3	453	c.422C>T	c.(421-423)tCc>tTc	p.S141F	JOSD2_uc002psp.1_Missense_Mutation_p.S141F|JOSD2_uc002pso.1_Missense_Mutation_p.S141F|JOSD2_uc002psq.1_Missense_Mutation_p.S99F	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	141	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CCGCAGCTTGGAGTCCAGGTT	0.697000														12			15		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259684	151259684	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:151259684C>T	uc001exq.3	+	1	1015	c.917C>T	c.(916-918)tCt>tTt	p.S306F	ZNF687_uc001exp.1_Missense_Mutation_p.S315F|ZNF687_uc009wmo.3_Missense_Mutation_p.S306F|ZNF687_uc009wmp.3_Missense_Mutation_p.S306F	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGAGTCCCTCTAGTGGGGCC	0.572000														43			38		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14773998	14773998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:14773998C>T	uc001rcd.3	-	22	2891	c.2754G>A	c.(2752-2754)tgG>tgA	p.W918*		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	918	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAATGCGAATCCATATTGGGA	0.463000														24			16		0	0	1	0	0
CNTF	1270	broad.mit.edu	37	11	58391895	58391896	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:58391895_58391896GG>AA	uc001nna.4	+	1	583_584	c.503_504GG>AA	c.(502-504)tgg>tAA	p.W168*	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	168					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTTTCACAGTGGACAGTAAGGT	0.485000														45			22		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23390058	23390058	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:23390058G>C	uc002dln.3	+	10	1612	c.1436G>C	c.(1435-1437)cGg>cCg	p.R479P		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	479					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCTCAGGAGCGGGACCAAAGC	0.582000														36			16		0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363819	72363819	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:72363819C>T	uc021ucp.1	+	0	175	c.166C>T	c.(166-168)Cca>Tca	p.P56S	GPR142_uc010wqy.2_Missense_Mutation_p.P59S	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	59						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCTGAGGTCTCCACAGGTCAC	0.547000														20			20		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36438973	36438973	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:36438973G>A	uc003tff.3	+	2	662	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	ANLN_uc011kaz.2_Missense_Mutation_p.R65Q|ANLN_uc003tfg.3_Missense_Mutation_p.R153Q|ANLN_uc010kxe.3_Missense_Mutation_p.R153Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	153	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCAGAGCAACGGCGCCGTTGG	0.448000														32			24		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1155717	1155717	+	Silent	SNP	G	A	A	rs76203912		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:1155717G>A	uc021qbr.1	+	3	452	c.405G>A	c.(403-405)agG>agA	p.R135R				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	131	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCTGAGCAGGGTCCTCATGA	0.632000														8			16		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506908	74506908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:74506908C>T	uc001dfy.4	-	6	1899	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	569										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAACTTTTTTCATTTCTTTAA	0.294000														14			7		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69005848	69005848	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:69005848C>T	uc003xxv.1	+	20	2286	c.2259C>T	c.(2257-2259)tcC>tcT	p.S753S	PREX2_uc003xxu.1_Silent_p.S753S|PREX2_uc011lez.1_Silent_p.S688S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	753	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCAAGATTCCATACAATGGG	0.428000														93			20		0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194158092	194158092	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:194158092G>A	uc003fty.4	-	17	2349	c.1947C>T	c.(1945-1947)gcC>gcT	p.A649A	ATP13A3_uc003ftz.1_Silent_p.A355A	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	649					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CTTTCATGTAGGCGTCCATTT	0.463000														42			21		0	0	1	0	0
C1orf49	84066	broad.mit.edu	37	1	178483876	178483876	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:178483876C>T	uc001glt.2	+	2	244	c.132C>T	c.(130-132)acC>acT	p.T44T	C1orf49_uc021pfd.1_Silent_p.T44T|C1orf49_uc001glu.1_Silent_p.T44T|C1orf49_uc021pfe.1_Silent_p.T44T|C1orf49_uc001glw.2_Silent_p.T52T|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	44						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						GGCGGTTTACCAAAGCAGGAG	0.463000														18			11		0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179755	90179755	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:90179755A>C	uc001dnl.4	+	2	1868	c.1626A>C	c.(1624-1626)aaA>aaC	p.K542N		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	542						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGGATCTCAAAAGCCTTAAAA	0.438000														38			46		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113303249	113303249	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:113303249G>A	uc010syl.2	+	5	623	c.261G>A	c.(259-261)agG>agA	p.R87R	RPH3A_uc001ttz.3_Silent_p.R87R|RPH3A_uc001tty.3_Silent_p.R83R|RPH3A_uc009zwe.1_Silent_p.R83R|RPH3A_uc010sym.2_Silent_p.R38R|RPH3A_uc001tua.3_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	87	RabBD.				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)		AAAACATGAGGAAGAACGTGG	0.547000														123			23		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395966	156395966	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:156395966G>A	uc003fav.3	+	1	902	c.480G>A	c.(478-480)caG>caA	p.Q160Q	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Silent_p.Q160Q|TIPARP_uc021xgg.1_Silent_p.Q160Q	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	160							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.Q160Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTCACTTCCAGACTGATCTTT	0.463000														63			30		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101014534	101014534	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:101014534G>A	uc003yjb.1	-	17	2881	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	RGS22_uc003yja.1_Nonsense_Mutation_p.R715*|RGS22_uc003yjc.1_Nonsense_Mutation_p.R884*|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Nonsense_Mutation_p.R285*|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	896	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.D895Y(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTTGATTTCGATCTCTGTAA	0.333000														34			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864614	13864615	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:13864614_13864615CC>TT	uc003jfd.2	-	27	4529_4530	c.4487_4488GG>AA	c.(4486-4488)tgg>tAA	p.W1496*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1496	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H1495Q(1)		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)					TTATCCTTTCCCAGTGCCGCTC	0.475000									Kartagener syndrome					37			26		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57600317	57600318	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:57600317_57600318CC>TT	uc001snd.3	+	75	12118_12119	c.11652_11653CC>TT	c.(11650-11655)ggccac>ggTTac	p.H3885Y		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3885					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTTCCCCGGCCACCCCCATTC	0.584000														39			28		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156723693	156723693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:156723693G>A	uc021ygm.1	+	4	433	c.295G>A	c.(295-297)Gag>Aag	p.E99K	CYFIP2_uc011ddn.2_Missense_Mutation_p.E74K|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.E99K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E99K|CYFIP2_uc003lwt.3_5'UTR|CYFIP2_uc011ddp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	100					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.E100K(2)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAAATGCAACGAGCAGCCCAA	0.463000														47			54		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179473600	179473600	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179473600C>A	uc021vsy.1	-	222	44659	c.44434G>T	c.(44434-44436)Gat>Tat	p.D14812Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D8507Y|TTN_uc021vta.1_Missense_Mutation_p.D8440Y|TTN_uc021vtb.1_Missense_Mutation_p.D8315Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15739	Fibronectin type-III 7.						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)			TTTCTGATATCTTCAAATACA	0.368000														67			16		1.01871e-10	1.03506e-10	1	1	0
PRMT8	56341	broad.mit.edu	37	12	3649838	3649838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:3649838C>T	uc001qmf.3	+	1	509	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	PRMT8_uc009zed.3_Missense_Mutation_p.H39Y|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	48					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ATGCGTCCATCATGTGTCCAC	0.607000														186			142		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155702	12155702	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:12155702C>T	uc021upl.1	-	3	680	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	ZNF878_uc002mta.1_Missense_Mutation_p.E219K	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.Y171Y(1)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCTTACATTCATAGGGTTTT	0.413000														161			103		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455200	76455200	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:76455200G>A	uc010dhp.2	-	60	9869	c.9744C>T	c.(9742-9744)atC>atT	p.I3248I	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.E3248Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGAAGCGGACGATGTTGATGC	0.642000														146			187		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733901	179733901	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179733901G>A	uc002une.2	-	14	2455	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	CCDC141_uc002unf.1_Silent_p.I258I	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	204							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)			CGTAATCCTGGATTCTCTCTT	0.418000														59			27		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095398	130095398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:130095398G>A	uc010htj.1	+	2	880	c.386G>A	c.(385-387)aGa>aAa	p.R129K	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	129	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATAAATGGGAGAGACAGGAAA	0.522000														10			4		0	0	1	0	0
SPG21	51324	broad.mit.edu	37	15	65257734	65257734	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:65257734C>T	uc002aod.3	-	7	830	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	SPG21_uc002aoe.3_Missense_Mutation_p.R246Q|SPG21_uc010bhb.3_Missense_Mutation_p.R219Q	NM_001127889	NP_057714	Q9NZD8	SPG21_HUMAN	Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA.	246					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						ATGAGCTCTTCGGGCATTAGG	0.433000														25			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430602	179430602	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179430602A>G	uc021vsy.1	-	274	72778	c.72553T>C	c.(72553-72555)Tat>Cat	p.Y24185H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y17880H|TTN_uc021vta.1_Missense_Mutation_p.Y17813H|TTN_uc021vtb.1_Missense_Mutation_p.Y17688H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25112	Ig-like 121.						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)			CTGAAGTAATAAATGGCTCCT	0.418000														83			103		0	0	1	0	0
OTUD6B	51633	broad.mit.edu	37	8	92082560	92082560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:92082560C>T	uc003yeu.4	+	0	137	c.38C>T	c.(37-39)cCt>cTt	p.P13L	BC067244_uc003yet.3_5'Flank|OTUD6B_uc011lgh.2_5'UTR	NM_016023	NP_057107	Q8N6M0	OTU6B_HUMAN	Homo sapiens OTU domain containing 6B (OTUD6B), mRNA.	0										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TGGAAGGTGCCTACTAGCCGG	0.617000														20			8		0	0	1	0	0
NDFIP2	54602	broad.mit.edu	37	13	80095068	80095068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:80095068C>T	uc001vlf.3	+	1	525	c.445C>T	c.(445-447)Cca>Tca	p.P149S	NDFIP2_uc010tib.2_Missense_Mutation_p.P149S|NDFIP2_uc001vlg.3_Non-coding_Transcript	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN	Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA.	149	Interaction with NEDD4 (By similarity).				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	WW domain binding|signal transducer activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CTCTTCCCCTCCACCATATAG	0.408000														40			23		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148341935	148341935	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:148341935T>A	uc001eqf.3	-	4	673	c.638A>T	c.(637-639)aAt>aTt	p.N213I	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc001erd.4_Missense_Mutation_p.N213I|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_5'UTR|NBPF14_uc010pav.2_Missense_Mutation_p.N213I|NBPF14_uc010paw.2_Missense_Mutation_p.N138I	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	144	NBPF 2.|Poly-Glu.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GCCGTGGCTATTTGAACAAGT	0.493000														297			118		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691527	117691527	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:117691527G>A	uc001twn.2	-	17	3377	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F	NOS1_uc021ren.1_Missense_Mutation_p.S519F|NOS1_uc021reo.1_Missense_Mutation_p.S519F|NOS1_uc001twm.2_Missense_Mutation_p.S855F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	855	Flavodoxin-like.				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)	GTCAGAGTAGGAGGAGACGCT	0.547000														79			16		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119215467	119215467	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:119215467C>T	uc010rzg.1	-	7	933	c.773_splice	c.e7-1	p.G258_splice	C1QTNF5_uc001pwj.2_Splice_Site			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	258					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGCACAGCTCCCTGGATGTGG	0.587000														15			37		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158283904	158283904	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:158283904G>A	uc002tzj.1	-	5	577	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	CYTIP_uc010zcl.1_Silent_p.L63L	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	169	Interaction with CYTH1.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GTTCTTTTCAGAATCATTGTT	0.353000														12			6		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113353198	113353198	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:113353198C>T	uc003ian.4	+	10	2722	c.2495C>T	c.(2494-2496)tCc>tTc	p.S832F	ALPK1_uc003iap.4_Missense_Mutation_p.S832F|ALPK1_uc011cfx.2_Missense_Mutation_p.S754F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.S660F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	832							ATP binding|protein serine/threonine kinase activity	p.S832Y(2)|p.S832N(2)|p.S832T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATCCTGACTCCAGAAAAAGT	0.542000														19			17		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665863	25665863	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:25665863G>A	uc003grr.3	+	3	371	c.290G>A	c.(289-291)gGg>gAg	p.G97E	SLC34A2_uc003grs.3_Missense_Mutation_p.G96E|SLC34A2_uc010iev.3_Missense_Mutation_p.G96E	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	97					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCTTCCAAGGGATTGGGAGA	0.468000			T	ROS1	NSCLC									118			68		0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50911881	50911881	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:50911881A>G	uc001wya.3	-	17	1537	c.1217T>C	c.(1216-1218)tTt>tCt	p.F406S	MAP4K5_uc001wyb.3_Missense_Mutation_p.F406S|MAP4K5_uc010anv.1_Missense_Mutation_p.F406S|MAP4K5_uc001wyc.1_Missense_Mutation_p.F80S	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA.	406					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTCATCCGGAAAGTTGTCTTC	0.418000														19			5		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576463	158576463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:158576463C>T	uc010pio.2	+	0	235	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79T(2)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGGCATCATCCCTAGAATGCT	0.537000														242			104		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10575879	10575879	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:10575879G>T	uc002czw.3	+	10	1981	c.1822G>T	c.(1822-1824)Gta>Tta	p.V608L	ATF7IP2_uc010uyp.2_Missense_Mutation_p.V152L|ATF7IP2_uc002czu.3_Missense_Mutation_p.V608L|ATF7IP2_uc002czv.3_3'UTR|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	608	Fibronectin type-III.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GTGTGCTCCTGTAGAAAGCTA	0.443000														44			50		1.30916e-28	1.35049e-28	1	1	0
APOB	338	broad.mit.edu	37	2	21237416	21237416	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:21237416T>G	uc002red.3	-	23	3874	c.3746A>C	c.(3745-3747)cAg>cCg	p.Q1249P		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1249					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)	TTGCAAAGTCTGGGTATAAGG	0.448000														31			10		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244203	141244203	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:141244203G>A	uc003llp.3	-	2	1810	c.1693C>T	c.(1693-1695)Cag>Tag	p.Q565*	PCDH1_uc011dbf.2_Nonsense_Mutation_p.Q543*|PCDH1_uc003llq.3_Nonsense_Mutation_p.Q565*	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	565	Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTCTTCACCTGGATCTCTCCA	0.582000														23			25		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125282009	125282009	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:125282009G>A	uc010flu.3	+	8	1821	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G485E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	485	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATTTATTCTGGAAATAGCTAC	0.453000														3			10		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58587587	58587587	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:58587587C>T	uc002ybe.3	+	17	2612	c.2301C>T	c.(2299-2301)ctC>ctT	p.L767L	CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_Silent_p.L100L|CDH26_uc002ybi.3_Silent_p.L59L	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCCAGAAACTCCATGTTGCCA	0.532000														57			31		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298150	107298150	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:107298150C>T	uc004bcb.1	-	0	945	c.945G>A	c.(943-945)ggG>ggA	p.G315G		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	315					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						GTGTCACTACCCCATAAAACA	0.373000														66			28		0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124558	106124558	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:106124558G>A	uc001kyh.3	+	3	642	c.508G>A	c.(508-510)Gta>Ata	p.V170I		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	170										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATCAGAAGTGGTAAAATTACG	0.453000														6			24		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137244533	137244533	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:137244533G>A	uc003lby.3	+	7	1282	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	PKD2L2_uc003lbw.1_Missense_Mutation_p.G409E|PKD2L2_uc003lbx.3_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.G17E	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	409						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACATAGTAGGATTTGCCATC	0.328000														8			15		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307454	37307454	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:37307454C>T	uc001caz.2	-	9	1548	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	GRIK3_uc001cba.1_Silent_p.K471K	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	471					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)	GGGCCAGCTCCTTTAGCAGGT	0.567000														106			99		0	0	1	0	0
ATXN7L1	222255	broad.mit.edu	37	7	105516868	105516868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:105516868G>A	uc003vde.2	-	0	164	c.137C>T	c.(136-138)cCc>cTc	p.P46L	ATXN7L1_uc003vdi.2_Missense_Mutation_p.P46L|CDHR3_uc003vdk.3_5'Flank	NM_020725	NP_065776	Q9ULK2	AT7L1_HUMAN	Homo sapiens ataxin 7-like 1 (ATXN7L1), transcript variant 1, mRNA.	46										endometrium(1)|large_intestine(4)|lung(5)	10						GGAGGACCAGGGTTTGCCCAG	0.542000														15			11		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878597	5878597	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:5878597G>A	uc010qzr.2	-	0	336	c.336C>T	c.(334-336)ttC>ttT	p.F112F	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F112L(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCAGTGAAGAAATGGATGA	0.458000														103			54		0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112106526	112106526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:112106526C>T	uc001ebg.4	-	0	72	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	RAP1A_uc001ebi.3_Intron	NM_001081976	NP_001075445	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 3, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CAGGAGCTTTCCCACCTGGCC	0.552000														56			53		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77786261	77786261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:77786261G>A	uc021rks.1	-	21	3359	c.3092C>T	c.(3091-3093)cCa>cTa	p.P1031L	MYCBP2_uc010aev.3_Missense_Mutation_p.P397L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	993					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTCCAATATGGCACATCCAA	0.358000														18			22		0	0	1	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423748	142423749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:142423748_142423749GG>AA	uc010lol.1	+	1	437_438	c.404_405GG>AA	c.(403-405)agg>aAA	p.R135K	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|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GCAAGAACAAGGAGACTCCTCC	0.550000														22			14		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46736440	46736440	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:46736440C>T	uc001cpl.2	+	9	1863	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	RAD54L_uc009vye.2_Silent_p.L384L	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	384					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGCGGGAGCTCACCAGCATTG	0.502000								Direct reversal of damage;Homologous recombination						37			13		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237032677	237032677	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:237032677G>A	uc002vvs.3	+	17	3083	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	AGAP1_uc002vvt.3_Missense_Mutation_p.E776K	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	829			E -> K (in dbSNP:rs15718).		protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGCCCCGACGAGCGCTTCGT	0.637000														35			49		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14405957	14405957	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:14405957G>A	uc003jff.3	+	32	4723	c.4717_splice	c.e32-1	p.A1573_splice	TRIO_uc003jfg.3_Splice_Site|TRIO_uc003jfh.1_Splice_Site_p.A1222_splice	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1573	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTTGTTAAGGCTTCCAGCAT	0.512000														20			17		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85411375	85411375	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:85411375C>T	uc002ble.3	+	13	5579	c.5412C>T	c.(5410-5412)gcC>gcT	p.A1804A	ALPK3_uc010upc.2_Silent_p.A105A	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1804	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.P1803L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTTCCCTGCCCTGCTGGACC	0.647000														161			41		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862630	5862630	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:5862630T>C	uc010qzq.2	-	0	498	c.498A>G	c.(496-498)ttA>ttG	p.L166L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGCAACCTTAAGAGGAGAA	0.493000														33			82		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783714	10783714	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:10783714G>A	uc001qys.2	-	4	902	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	127	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTCGAAAGATGGGCCCACAGC	0.512000										HNSCC(73;0.22)				75			12		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71103194	71103194	+	Silent	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:71103194G>C	uc002ezr.3	-	13	2101	c.1950C>G	c.(1948-1950)cgC>cgG	p.R650R	HYDIN_uc010cfz.2_Silent_p.R395R|HYDIN_uc021tkq.1_Silent_p.R650R|HYDIN_uc010vmc.2_Silent_p.R667R|HYDIN_uc010vmd.2_Silent_p.R677R|HYDIN_uc002ezw.4_Silent_p.R667R	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	650										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)				ATCCCTGGGGGCGAATGGTGC	0.488000														51			20		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88408030	88408030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:88408030C>T	uc002ssr.3	+	8	1371	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.P125L	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ACACACGGACCCTCCCACCCC	0.567000														19			17		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020490	69020491	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:69020490_69020491GG>AA	uc003xxv.1	+	23	2889_2890	c.2862_2863GG>AA	c.(2860-2865)ttggga>ttAAga	p.G955R	PREX2_uc011lez.1_Missense_Mutation_p.G890R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	955					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAACCTCTTTGGGAAGTGCATT	0.411000														31			15		0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64913954	64913954	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:64913954G>A	uc003jty.3	-	1	296	c.210C>T	c.(208-210)atC>atT	p.I70I	TRIM23_uc003jtw.3_Silent_p.I70I|TRIM23_uc003jtx.3_Silent_p.I70I	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	70					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATGGGCAACGGATTGCTCTTC	0.408000														25			18		0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369194	82369194	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:82369194G>A	uc001kck.1	+	5	1302	c.872G>A	c.(871-873)cGc>cAc	p.R291H	SH2D4B_uc001kcl.1_Missense_Mutation_p.R243H|SH2D4B_uc001kcm.1_Missense_Mutation_p.R38H	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	290										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			ACCTGGGAGCGCCCGCTGCGC	0.607000														18			41		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665402	117665402	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:117665402G>A	uc001twn.2	-	23	4263	c.3552C>T	c.(3550-3552)acC>acT	p.T1184T	NOS1_uc021ren.1_Silent_p.T814T|NOS1_uc021reo.1_Silent_p.T814T|NOS1_uc001twm.2_Silent_p.T1150T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1150	FAD-binding FR-type.				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	p.S1184S(1)|p.S1183R(1)		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)	CCTCCACGATGGTGGGGTTCT	0.577000														66			63		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55902251	55902251	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:55902251G>A	uc003tqz.2	-	5	704	c.587C>T	c.(586-588)gCa>gTa	p.A196V		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	196					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AATAGTGTCTGCTTTGGCAAT	0.308000														32			3		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51918901	51918901	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:51918901G>A	uc003pah.1	-	19	2175	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_uc003pai.3_Silent_p.I633I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	633					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)					TTTGAAAGCCGATTGTGAAGG	0.478000														32			67		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142183	126142183	+	Silent	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:126142183C>A	uc010hsg.1	+	10	1160	c.1101C>A	c.(1099-1101)atC>atA	p.I367I	CCDC37_uc003eiu.1_Silent_p.I366I	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	366								p.T369fs*36(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACTCTCCCATCCCCCCCACGC	0.657000														10			8		0.00621372	0.00621986	1	1	0
ZNF211	10520	broad.mit.edu	37	19	58152436	58152437	+	Silent	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:58152436_58152437CC>TT	uc002qpr.2	+	5	1077_1078	c.774_775CC>TT	c.(772-777)ttcctg>ttTTtg	p.258_259FL>FL	ZNF211_uc010yhb.1_Silent_p.198_199FL>FL|ZNF211_uc002qpp.2_Silent_p.207_208FL>FL|ZNF211_uc002qpq.2_Silent_p.194_195FL>FL|ZNF211_uc002qpt.2_Silent_p.206_207FL>FL|ZNF211_uc010yhc.1_Silent_p.206_207FL>FL|ZNF211_uc010yhe.1_Silent_p.185_186FL>FL|ZNF211_uc010yhd.1_Silent_p.133_134FL>FL	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAAGACTTCCTGGCCAACAT	0.475000														25			31		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247712498	247712498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:247712498G>A	uc001idf.3	+	0	152	c.5G>A	c.(4-6)gGa>gAa	p.G2E	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	2										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			GAAAAGATGGGAAATTATCTC	0.483000														49			31		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138291768	138291768	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:138291768A>T	uc003esl.3	-	2	200	c.2T>A	c.(1-3)aTg>aAg	p.M1K	CEP70_uc011bmk.2_Intron|CEP70_uc011bml.2_Intron|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.M1K|CEP70_uc003esn.3_Missense_Mutation_p.M1K	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	1					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TACCGGAAACATAGTTACTTT	0.338000														36			21		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101253000	101253000	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:101253000G>A	uc003yjh.2	+	18	2735	c.2649_splice	c.e18+1	p.K883_splice	SPAG1_uc003yji.2_Splice_Site_p.K883_splice	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	883					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGGTTTAAGGTAAGTGGCTA	0.299000														42			29		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42830677	42830677	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:42830677C>T	uc010goq.3	+	14	2327	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	MX1_uc002yzh.3_Missense_Mutation_p.P661S|MX1_uc002yzi.3_Missense_Mutation_p.P661S	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	661	GED.				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)				TGCCCAGTTCCCCGGTTAACC	0.642000														51			9		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396127	38396127	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:38396127G>A	uc022bgy.1	+	0	382	c.382G>A	c.(382-384)Ggg>Agg	p.G128R	ALDH1B1_uc004aay.3_Missense_Mutation_p.G128R	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	128					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTTGGACAATGGGAAGCCTTT	0.577000														85			45		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25542722	25542722	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:25542722G>A	uc011awl.2	+	2	443	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RARB_uc003cdi.2_Missense_Mutation_p.R7Q|RARB_uc003cdh.3_Missense_Mutation_p.R119Q	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	126					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACTTGTCACCGAGATAAGAAC	0.393000														37			13		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926436	1926436	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:1926436C>T	uc002qxe.3	-	9	1932	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	MYT1L_uc002qxd.3_Missense_Mutation_p.G369R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	369					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)		GGCGTCCTTCCGGGGAAGTCC	0.602000														13			17		0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043212	153043213	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:153043212_153043213GT>AA	uc003qpc.4	+	1	540_541	c.532_533GT>AA	c.(532-534)gtg>AAg	p.V178K		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	178						nucleus		p.P177S(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACCACTTCCTGTGGAAACTGAG	0.490000														44			22		0	0	1	0	0
C9orf100	84904	broad.mit.edu	37	9	35663365	35663365	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:35663365C>A	uc003zxm.1	-	4	610	c.498G>T	c.(496-498)ttG>ttT	p.L166F	C9orf100_uc003zxl.3_Non-coding_Transcript|C9orf100_uc011loz.1_Missense_Mutation_p.L166F	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	166	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGTTTTCAGCCAAAGCTACGA	0.547000														32			18		9.16793e-09	9.28711e-09	1	1	0
MFSD2B	388931	broad.mit.edu	37	2	24239823	24239823	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:24239823C>T	uc002reo.2	+	3	470	c.456C>T	c.(454-456)ttC>ttT	p.F152F	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	152					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTGCCTGTTCCAGGCCCTGG	0.647000														63			17		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8352031	8352031	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:8352031G>C	uc002wnb.3	+	2	183	c.180G>C	c.(178-180)gaG>gaC	p.E60D	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.E60D|PLCB1_uc002wmz.1_Missense_Mutation_p.E60D|PLCB1_uc002wna.3_Missense_Mutation_p.E60D	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	60					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTTCCAGGAGACAGAGCTAC	0.448000														52			32		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182551334	182551334	+	Silent	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:182551334C>A	uc009wxz.2	-	3	1883	c.1626G>T	c.(1624-1626)ctG>ctT	p.L542L	RNASEL_uc001gpk.3_Silent_p.L542L|RNASEL_uc009wya.1_3'UTR	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	542	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity	p.L542L(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTGAGCTTTCAGATCCTCAA	0.448000														119			108		3.11409e-38	3.22224e-38	1	1	0
PCLO	27445	broad.mit.edu	37	7	82580559	82580559	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:82580559C>T	uc003uhx.2	-	5	9634	c.9345G>A	c.(9343-9345)gtG>gtA	p.V3115V	PCLO_uc003uhv.2_Silent_p.V3115V|PCLO_uc010lec.3_Silent_p.V80V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3046					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACAAATCCCTCACTGTGGTGC	0.448000														30			8		0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153171269	153171269	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:153171269C>T	uc004fjh.4	+	1	481	c.309C>T	c.(307-309)gaC>gaT	p.D103D	AVPR2_uc004fjg.4_Intron|AVPR2_uc004fji.3_Silent_p.D103D	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	103					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGGCCACCGACCGCTTCCGTG	0.627000														11			94		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	2994003	2994003	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:2994003G>A	uc003ggn.1	+	3	778	c.323G>A	c.(322-324)aGa>aAa	p.R108K	GRK4_uc003ggo.1_Missense_Mutation_p.R108K|GRK4_uc003ggp.1_Missense_Mutation_p.R76K|GRK4_uc003ggq.1_Missense_Mutation_p.R76K	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	108	N-terminal.|RGS.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCTTAGATAGATTCTTCAAT	0.338000														33			13		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42276884	42276885	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:42276884_42276885CC>TT	uc003bbi.3	+	9	2095_2096	c.1926_1927CC>TT	c.(1924-1929)ttccag>ttTTag	p.Q643*	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	643					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGAAAGTCTTCCAGTGCCGGCG	0.653000														37			35		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1087107	1087107	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:1087107C>T	uc003jbu.3	-	5	652	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	196					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTCCAAACTCGGGTCCCAGC	0.607000														30			24		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901544	13901544	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:13901544G>A	uc003jfd.2	-	13	1911	c.1869C>T	c.(1867-1869)atC>atT	p.I623I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	623	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)					TCTTTCCAGCGATGGGAGGCT	0.502000									Kartagener syndrome					38			8		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533853	69533853	+	Nonsense_Mutation	SNP	G	A	A	rs145139175		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:69533853G>A	uc021xow.1	-	1	936	c.778C>T	c.(778-780)Cga>Tga	p.R260*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	260					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAATAGGTTCGAATGAGCCAC	0.398000														81			72		0	0	1	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043153	153043153	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:153043153G>A	uc001fbg.3	-	1	223	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2A_uc001fbf.3_Intron	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	Homo sapiens small proline-rich protein 2B (SPRR2B), mRNA.	55					keratinization	cornified envelope|cytoplasm				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.557000														220			23		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15851693	15851693	+	Silent	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:15851693G>T	uc002ddx.3	-	13	1694	c.1587C>A	c.(1585-1587)atC>atA	p.I529I	MYH11_uc002ddv.3_Silent_p.I529I|MYH11_uc002ddw.3_Silent_p.I522I|MYH11_uc002ddy.3_Silent_p.I522I|MYH11_uc010bvg.3_Silent_p.I354I|MYH11_uc002dea.1_Silent_p.I228I	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	522	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCGGTCGCTCGATGAGCTCGA	0.627000			T	CBFB	AML									50			17		5.01169e-05	5.04657e-05	1	1	0
EEPD1	80820	broad.mit.edu	37	7	36194748	36194748	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:36194748C>G	uc003tfa.3	+	1	1455	c.815C>G	c.(814-816)tCc>tGc	p.S272C		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	272					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CAGGGCTGTTCCGTGGAGAAG	0.607000														44			20		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949593	56949593	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:56949593G>A	uc001njl.2	+	0	373	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	46	LRRNT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATGCACTCGGATGCCGGCAC	0.632000														32			14		0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76251507	76251507	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:76251507G>A	uc003ker.3	+	3	643	c.363G>A	c.(361-363)gaG>gaA	p.E121E	CRHBP_uc010izx.3_Silent_p.E121E	NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	121					female pregnancy|learning or memory|signal transduction	soluble fraction		p.G120E(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TCAAGGGGGAGAAGTTCCCCA	0.448000														35			20		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:60377919C>T	uc001czq.3	-	2	443	c.438G>A	c.(436-438)agG>agA	p.R146R		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	146					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	p.L145L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AACCAAAGTTCCTTAGTGCTG	0.438000														60			19		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84563164	84563164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:84563164C>T	uc004eer.2	-	9	1162	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	POF1B_uc004ees.3_Missense_Mutation_p.R339Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	339							actin binding	p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AAGCTCCTCCCGTATGTTGCT	0.353000														31			7		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949333	131949333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:131949333C>T	uc003ytd.4	-	4	1723	c.1467G>A	c.(1465-1467)atG>atA	p.M489I	ADCY8_uc010mds.3_Missense_Mutation_p.M489I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	489					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)			TGGTTTTGATCATGCTGAGAC	0.488000										HNSCC(32;0.087)				67			38		0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33348624	33348624	+	Silent	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:33348624A>T	uc010cti.1	-	2	599	c.375T>A	c.(373-375)tcT>tcA	p.S125S	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Silent_p.S119S|RFFL_uc002hin.1_Silent_p.S119S|RFFL_uc002hip.2_Silent_p.S119S|RFFL_uc002hio.2_Silent_p.S119S	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	119					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACATTTCGGTAGAGATGTCAT	0.547000														63			42		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251481	40251481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:40251481C>T	uc003cka.3	+	10	1937	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.S601L|MYRIP_uc010hhw.3_Missense_Mutation_p.S512L|MYRIP_uc011ayz.2_Missense_Mutation_p.S414L|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	601	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGACTTCTTCAGGGGAGGAT	0.507000														31			16		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228602	121228602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:121228602C>T	uc003yox.3	+	13	1875	c.1610C>T	c.(1609-1611)cCa>cTa	p.P537L	COL14A1_uc003yoy.3_Missense_Mutation_p.P215L|COL14A1_uc010mde.1_Missense_Mutation_p.P215L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	537	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)			GCTTTAAGTCCACCAAGAAAC	0.338000														45			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477796	179477796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179477796G>A	uc021vsy.1	-	213	42173	c.41948C>T	c.(41947-41949)cCt>cTt	p.P13983L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7678L|TTN_uc021vta.1_Missense_Mutation_p.P7611L|TTN_uc021vtb.1_Missense_Mutation_p.P7486L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14910	Ig-like 95.						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)			GGGCCATGGAGGATCTGCAAG	0.368000														31			12		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105202	42105202	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:42105202G>A	uc001zok.4	+	7	1008	c.722G>A	c.(721-723)aGa>aAa	p.R241K	MAPKBP1_uc010bci.3_Missense_Mutation_p.R241K|MAPKBP1_uc010udb.2_Missense_Mutation_p.R129K|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R241K|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.	241										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)		GCCTGTGGCAGAGGAAAAAAG	0.577000														78			71		0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828659	23828659	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:23828659C>T	uc001wjo.3	-	3	1636	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	EFS_uc001wjp.3_Missense_Mutation_p.R250H|EFS_uc010tnm.2_Missense_Mutation_p.R174H	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	343	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	p.R343L(2)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		ACCAGGCAGGCGGGGTGGGGG	0.692000														40			14		0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87439961	87439961	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:87439961C>T	uc003ydt.3	+	10	1527	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F	WWP1_uc010mai.3_Missense_Mutation_p.S192F	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	416					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACCATGGAATCTGTCCGAAAT	0.428000														107			20		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50452658	50452658	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:50452658G>A	uc001rvv.3	+	1	338	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ASIC1_uc001rvw.3_Missense_Mutation_p.E37K|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Missense_Mutation_p.E37K	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	37					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTTCTCCTACGAGCGGCTGTC	0.652000														82			57		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59861536	59861536	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:59861536G>A	uc001nop.3	+	6	738	c.636_splice	c.e6+1	p.K212_splice	MS4A2_uc021qka.1_Splice_Site_p.K167_splice	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	212					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AGGAAACAAGGTAGATAGAAG	0.408000														6			23		0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552305	152552305	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:152552305G>A	uc021oza.1	-	0	108	c.108C>T	c.(106-108)ggC>ggT	p.G36G	LCE3D_uc001fab.3_Silent_p.G36G	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	36					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		TTGGGGCACAGCCAGAGGAAG	0.662000														127			70		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106070458	106070458	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:106070458G>A	uc004emo.3	+	6	1259	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.G365E|TBC1D8B_uc004emn.3_Missense_Mutation_p.G365E	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	365						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCATCAAAGGAAAAACAGCT	0.368000														15			131		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158584077	158584077	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:158584077C>T	uc001fst.1	-	48	7007	c.6808G>A	c.(6808-6810)Gaa>Aaa	p.E2270K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2270					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)					AGAGTCTCTTCACTCACACCT	0.333000														25			21		0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86998794	86998794	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:86998794T>C	uc003uiu.3	+	7	979	c.734T>C	c.(733-735)cTt>cCt	p.L245P	CROT_uc003uit.3_Missense_Mutation_p.L217P	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	217					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCGCCAGAGCTTCTCAGGTTT	0.413000														85			74		0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36602824	36602824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:36602824G>A	uc001bzx.3	-	4	611	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F		NM_014408	NP_055223	O43617	TPPC3_HUMAN	Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA.	175						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				CCAGCTGGAAGATTGTCCTCA	0.542000														48			13		0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355544	33355544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:33355544C>T	uc002ntv.4	-	2	343	c.226G>A	c.(226-228)Gcg>Acg	p.A76T	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.A76T|SLC7A9_uc021usa.1_Missense_Mutation_p.A76T|SLC7A9_uc002ntw.4_Intron	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.	76					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			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)	CCCAGCGTCGCGAGGACCCCG	0.627000														82			25		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846757	123846757	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:123846757C>T	uc001lfv.3	+	3	5102	c.4742C>T	c.(4741-4743)cCc>cTc	p.P1581L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1581L|TACC2_uc010qtv.2_Missense_Mutation_p.P1581L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1581						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)				CAGGTGGCTCCCCATAGCCAT	0.567000														23			12		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624359	32624359	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:32624359G>A	uc002yow.1	-	5	1582	c.1110C>T	c.(1108-1110)agC>agT	p.S370S	TIAM1_uc011adk.1_Silent_p.S370S|TIAM1_uc011adl.1_Silent_p.S370S|TIAM1_uc002yox.1_5'UTR	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	370					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						AGCTGCTGCCGCTGTCGCTGC	0.652000														138			86		0	0	1	0	0
GPR146	115330	broad.mit.edu	37	7	1097586	1097586	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:1097586G>A	uc003sjx.4	+	1	634	c.435G>A	c.(433-435)cgG>cgA	p.R145R	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Silent_p.R145R	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.	145						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		ACAACACGCGGCACGTGTGCG	0.647000														86			15		0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9874043	9874043	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:9874043C>T	uc002mmb.1	-	2	588	c.57G>A	c.(55-57)caG>caA	p.Q19Q	ZNF846_uc021uoq.1_Non-coding_Transcript|ZNF846_uc010dww.3_Intron|ZNF846_uc002mmc.1_5'UTR	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCCACTCCTCCTGGGTAAAGT	0.428000														112			71		0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237172	30237172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:30237172G>A	uc022buf.1	+	0	475	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	MAGEB2_uc004dbz.3_Missense_Mutation_p.G159S	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	159	MAGE.						protein binding	p.G159C(3)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCTCTGAGGGCCTCAGTGT	0.458000														2			24		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171086452	171086452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:171086452G>A	uc001ghi.3	+	8	1580	c.1469G>A	c.(1468-1470)tGg>tAg	p.W490*	FMO3_uc001ghh.3_Nonsense_Mutation_p.W490*|FMO3_uc010pmb.2_Nonsense_Mutation_p.W470*|FMO3_uc010pmc.2_Nonsense_Mutation_p.W427*	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	490					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGACCCAGTGGGACCGGTCG	0.527000														65			25		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754979	29754979	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:29754979G>A	uc002rmy.3	-	3	1908	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	319	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGGAGAAAGGAGCCTGGAAA	0.522000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					23			24		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397732	10397732	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:10397732C>T	uc002mnr.2	+	0	90	c.44C>T	c.(43-45)gCc>gTc	p.A15V	ICAM4_uc002mns.2_Missense_Mutation_p.A15V|ICAM4_uc002mnt.2_Missense_Mutation_p.A15V|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	15				AAAYPGVGSALGRRTK -> RPPTRELGARWDAGL (in Ref. 1; AAA59538/AAA59537).	cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTTTTGGCGGCCGCCTACCCG	0.672000														8			10		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494041	55494041	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:55494041G>A	uc021vbq.1	+	5	1086	c.975G>A	c.(973-975)gtG>gtA	p.V325V	NLRP2_uc010yfp.2_Silent_p.V302V|NLRP2_uc002qij.3_Silent_p.V325V|NLRP2_uc010esp.3_Silent_p.V303V|NLRP2_uc010esn.3_Silent_p.V301V|NLRP2_uc010eso.3_Silent_p.V322V	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	325	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGAACAGGGTGATGTTACCCA	0.662000														43			14		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18874357	18874357	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:18874357G>A	uc002gut.1	+	7	713	c.672G>A	c.(670-672)ctG>ctA	p.L224L	SLC5A10_uc002gur.1_Silent_p.L141L|SLC5A10_uc002guu.1_Silent_p.L224L|SLC5A10_uc002guv.1_Silent_p.L197L|SLC5A10_uc010vyl.1_Silent_p.L224L	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	224					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ACGGGCAGCTGGAGGCAGCCT	0.632000														90			19		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47361245	47361245	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:47361245C>T	uc021qis.1	-	20	2079	c.2024G>A	c.(2023-2025)gGg>gAg	p.G675E	MYBPC3_uc021qir.1_Missense_Mutation_p.G327E|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	674	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGCAGGGTCCCCAGAGATAGG	0.567000														10			15		0	0	1	0	0
POU5F1P3	642559	broad.mit.edu	37	12	8287264	8287264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:8287264G>A	uc010sgi.2	-	0	185	c.184C>T	c.(184-186)Cca>Tca	p.P62S	CLEC4A_uc001qtz.1_Intron|CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron|POU5F1P3_uc010sgj.1_Non-coding_Transcript					Homo sapiens POU class 5 homeobox 1 pseudogene 3 (POU5F1P3), non-coding RNA.																		GGGGGACATGGGGGAATCCCC	0.657000														7			10		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657280	113657280	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:113657280C>T	uc001edf.1	+	14	2510	c.2312C>T	c.(2311-2313)aCc>aTc	p.T771I	LRIG2_uc009wgn.1_Missense_Mutation_p.T668I	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	771	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATGTCTAACACCCTTGGGACA	0.468000														62			60		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175363020	175363020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:175363020G>A	uc001gkp.1	-	3	1333	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S	TNR_uc009wwu.1_Missense_Mutation_p.P418S|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	418	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCCTTGAGGAGTGGAGAGA	0.512000														78			85		0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065152	49065152	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:49065152G>A	uc003cvt.3	-	4	614	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	174					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCTCTTCCAAGAAACAGTCAT	0.522000														42			20		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076356	3076356	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:3076356C>T	uc003bpc.3	+	16	2163	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	CNTN4_uc003bpb.1_Silent_p.I279I|CNTN4_uc021wsg.1_Silent_p.I608I|CNTN4_uc003bpd.1_Silent_p.I608I|CNTN4_uc003bpe.3_Silent_p.I280I|CNTN4_uc003bpf.3_Silent_p.I279I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	608	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TAGACGAAATCACAGATACCA	0.542000														25			12		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497956	20497956	+	Nonsense_Mutation	SNP	C	T	T	rs143956389		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:20497956C>T	uc010bwe.3	+	14	1929	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R564*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R564*|ACSM2A_uc010vay.2_Nonsense_Mutation_p.R485*|ACSM2A_uc002dhh.4_Nonsense_Mutation_p.R194*|AX747287_uc002dhi.1_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	564					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						AGCCAAGCTTCGAGACAAGGA	0.458000														85			78		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30556418	30556419	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:30556418_30556419CC>TG	uc002wxe.3	+	0	614_615	c.440_441CC>TG	c.(439-441)gcc>gTG	p.A147V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	147						integral to membrane		p.A147T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCGCCGGCGCCTTCCGGACCA	0.733000														20			14		0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67644819	67644819	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:67644819C>T	uc002etl.3	+	2	528	c.84C>T	c.(82-84)cgC>cgT	p.R28R	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	28					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACCAGAGACGCCGGGAAGGGG	0.517000														57			21		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342234	60342234	+	RNA	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:60342234C>T	uc010woz.2	-	13		c.1895G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GTCTGGTGTGCTCCATCTCTG	0.498000														36			6		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33647270	33647270	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:33647270C>T	uc002nui.3	+	6	897	c.819C>T	c.(817-819)tcC>tcT	p.S273S		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	273										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGGCACATTCCAATGCAATCT	0.473000														62			20		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309739	153309739	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:153309739C>T	uc001fbo.3	-	7	926	c.861G>A	c.(859-861)ggG>ggA	p.G287G	PGLYRP4_uc001fbp.3_Silent_p.G283G	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	287					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAGCCCACCCCTTCATAAA	0.532000														24			31		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62945423	62945423	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:62945423G>C	uc002alb.4	+	3	427	c.427G>C	c.(427-429)Gga>Cga	p.G143R		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	143	FERM.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAAAGAGGAAGGAACGGGCAC	0.348000														18			7		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85707256	85707256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:85707256G>A	uc003hpd.3	-	23	4346	c.3938C>T	c.(3937-3939)cCt>cTt	p.P1313L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1313						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)		TAATGACACAGGGGATGGCAC	0.388000														59			14		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13428129	13428129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:13428129G>A	uc002mwy.3	-	10	1588	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	CACNA1A_uc010dzc.2_5'UTR|CACNA1A_uc010xnd.2_Missense_Mutation_p.P451L|CACNA1A_uc021ups.1_Missense_Mutation_p.P451L|CACNA1A_uc010xne.2_Missense_Mutation_p.P451L|CACNA1A_uc010dze.2_Missense_Mutation_p.P451L|CACNA1A_uc021upt.1_Missense_Mutation_p.P452L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	452					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCGGGCGAAGGGAGAACCTGC	0.498000														18			9		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15655083	15655083	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:15655083C>T	uc002nbh.4	+	9	1296	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	377						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCTGGAGGAGCTGGAGTGGTG	0.542000														24			21		0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176844545	176844545	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:176844545T>C	uc010fqw.1	-	4	507	c.507A>G	c.(505-507)gaA>gaG	p.E169E	KIAA1715_uc010zes.1_Silent_p.E105E|KIAA1715_uc002ukd.1_5'UTR|KIAA1715_uc002ukc.1_Silent_p.E103E|KIAA1715_uc010zer.1_Silent_p.E103E|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	103						integral to membrane	protein binding	p.Q168L(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TACTATTTCTTTCTGTTCTCT	0.269000														5			7		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993835	140993835	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:140993835G>A	uc004fbt.3	+	3	969	c.645G>A	c.(643-645)caG>caA	p.Q215Q	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	215							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)					GTATTTTCCAGAGTTCCCCTG	0.502000										HNSCC(15;0.026)				158			114		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627416	38627416	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:38627416G>A	uc021wvo.1	-	14	2605	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	SCN5A_uc021wvk.1_Silent_p.F851F|SCN5A_uc021wvl.1_Silent_p.F851F|SCN5A_uc021wvm.1_Silent_p.F851F|SCN5A_uc021wvn.1_Silent_p.F851F|SCN5A_uc021wvp.1_Silent_p.F851F|SCN5A_uc021wvq.1_Silent_p.F851F|SCN5A_uc021wvr.1_Silent_p.F851F|SCN5A_uc021wvs.1_Silent_p.F851F|SCN5A_uc021wvt.1_Silent_p.F851F|SCN5A_uc021wvu.1_Silent_p.F851F|SCN5A_uc021wvv.1_Silent_p.F851F|SCN5A_uc021wvj.1_Silent_p.F717F|SCN5A_uc021wvi.1_Silent_p.F717F|SCN5A_uc021wvw.1_Silent_p.F462F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	851			F -> L (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.V850M(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGCAAAGATGAACACGATGA	0.562000														52			21		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38820524	38820524	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:38820524G>A	uc021yzh.1	+	39	5630	c.5521G>A	c.(5521-5523)Gac>Aac	p.D1841N	DNAH8_uc003ooe.2_Missense_Mutation_p.D1624N	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						TCATGCAAAAGACTATGATCG	0.368000														70			29		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30885737	30885737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:30885737C>T	uc003cep.2	-	7	798	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	GADL1_uc003ceq.1_Missense_Mutation_p.E251K	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	251					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)	TTCTCCAGTTCCTCAGGTATC	0.438000														64			28		0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40818364	40818365	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:40818364_40818365CC>TT	uc010wgr.2	+	9	1276_1277	c.1020_1021CC>TT	c.(1018-1023)atccgg>atTTgg	p.R341W	TUBG2_uc002iap.3_Missense_Mutation_p.R188W	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	341					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	p.R341P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TGCAGAGGATCCGGGAACGGAA	0.673000														61			15		0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47288931	47288931	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:47288931C>T	uc010hjp.3	-	12	1769	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	KIF9_uc003cqx.3_Missense_Mutation_p.E389K|KIF9_uc003cqy.3_Missense_Mutation_p.E389K|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	389					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCTGGATTTCATCCATGGGG	0.537000														31			20		0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42088512	42088512	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:42088512C>T	uc010zwg.2	+	2	528	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SRSF6_uc002xki.3_5'UTR	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	120	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCTTTCTAGTCGGTGCAGTTG	0.378000														49			36		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28413670	28413670	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:28413670G>A	uc001zbj.3	-	66	10402	c.10296C>T	c.(10294-10296)tcC>tcT	p.S3432S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3432					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGCCGCCGAGGAGAACGAGG	0.592000														61			16		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32194572	32194572	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:32194572C>T	uc011alu.2	+	13	1078	c.876C>T	c.(874-876)ggC>ggT	p.G292G	DEPDC5_uc011als.2_Silent_p.G292G|DEPDC5_uc003als.3_Silent_p.G292G|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.G292G|DEPDC5_uc003alr.2_Silent_p.G292G|DEPDC5_uc011alt.2_Silent_p.G264G	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	292					intracellular signal transduction					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						CTTCAGAGGGCTTTCCTCAAG	0.428000														7			15		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89668818	89668818	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:89668818C>T	uc003hse.1	-	17	2554	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	FAM13A_uc003hsa.1_Silent_p.E253E|FAM13A_uc003hsb.1_Silent_p.E456E|FAM13A_uc003hsd.1_Silent_p.E456E|FAM13A_uc003hsc.1_Silent_p.E442E|FAM13A_uc011cdq.1_Silent_p.E428E|FAM13A_uc003hsf.1_Silent_p.E368E|FAM13A_uc003hsg.1_Silent_p.E253E	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	782					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCGCTCGCTTCTCCTGGAGCT	0.483000														115			83		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53453764	53453764	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:53453764C>T	uc001cur.2	+	10	1205	c.1037C>T	c.(1036-1038)cCt>cTt	p.P346L	SCP2_uc010ono.2_Missense_Mutation_p.P265L|SCP2_uc010onp.2_Missense_Mutation_p.P322L|SCP2_uc009vzi.2_Missense_Mutation_p.P302L|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Missense_Mutation_p.P302L	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	346					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GTCATAAATCCTAGTGGTGGA	0.358000														33			22		0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238600	21238600	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:21238600G>A	uc021ron.1	+	0	291	c.291G>A	c.(289-291)caG>caA	p.Q97Q	EDDM3B_uc001vyd.3_Silent_p.Q97Q	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	97					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TATGGGTCCAGAATCCTCTCA	0.418000														55			17		0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43348738	43348738	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:43348738G>A	uc002xmp.3	+	1	408	c.261G>A	c.(259-261)cgG>cgA	p.R87R	LOC79015_uc002xml.1_Intron|WISP2_uc002xmo.1_Silent_p.R87R|WISP2_uc002xmq.3_Silent_p.R87R	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	87	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCGGTGGCCGGGGGGCCCTGT	0.701000														9			3		0	0	1	0	0
PMS2P4	5382	broad.mit.edu	37	7	66764385	66764385	+	RNA	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:66764385G>A	uc003tvo.2	-	1		c.71C>T			PMS2P4_uc003tvq.3_Non-coding_Transcript|PMS2P4_uc003tvr.4_Non-coding_Transcript|PMS2P4_uc003tvs.4_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 4 (PMS2P4), non-coding RNA.																		CCGATCGATAGGTTTGATGGC	0.423000														242			52		0	0	1	0	0
ZNF346	23567	broad.mit.edu	37	5	176477759	176477760	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:176477759_176477760CC>TT	uc003mfk.1	+	5	643_644	c.600_601CC>TT	c.(598-603)caccag>caTTag	p.Q201*	ZNF346_uc003mfi.3_Nonsense_Mutation_p.Q176*|ZNF346_uc011dfr.2_Nonsense_Mutation_p.Q144*|ZNF346_uc011dfs.2_Nonsense_Mutation_p.Q78*|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	176						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			TAGCCTTGCACCAGAATAGAGA	0.460000														61			56		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131482500	131482500	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:131482500G>A	uc004bvw.3	+	20	2788	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	PKN3_uc010myh.3_Missense_Mutation_p.E799K|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	799	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAAGTGCCCGGAGAAGCGCCT	0.657000														17			9		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:186276075T>C	uc001gru.4	+	6	1275	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T367T|PRG4_uc009wyl.3_Silent_p.T315T|PRG4_uc009wym.3_Silent_p.T274T|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T408T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662000														233			14		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65916421	65916421	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:65916421G>A	uc010ujf.2	+	1	290	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC24A1_uc010ujd.1_Missense_Mutation_p.M1I|SLC24A1_uc010uje.1_Missense_Mutation_p.M1I|SLC24A1_uc010ujg.2_Missense_Mutation_p.M1I|SLC24A1_uc010ujh.2_Missense_Mutation_p.M1I	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	1					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGGCCAGCATGGGGAAATTGA	0.498000														56			45		0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62648772	62648772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:62648772C>T	uc001nwd.3	+	3	838	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	SLC3A2_uc001nwc.3_Missense_Mutation_p.L195F|SLC3A2_uc001nwf.3_Missense_Mutation_p.L132F|SLC3A2_uc001nwg.3_Missense_Mutation_p.L93F|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	194					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCTCGGCTGGCTCGGCATGCT	0.677000											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			6		0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84878172	84878172	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:84878172C>T	uc001djt.1	+	4	721	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	DNASE2B_uc001dju.1_Nonsense_Mutation_p.Q22*|DNASE2B_uc009wch.1_Nonsense_Mutation_p.Q22*	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA.	230					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CACCACACTTCAGTCGGCCCA	0.502000														35			42		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155003021	155003022	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:155003021_155003022GG>AA	uc001fgm.3	-	5	985_986	c.905_906CC>TT	c.(904-906)tcc>tTT	p.S302F	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	302						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			TGGCTACCTGGGACAGGCTCCG	0.594000														70			12		0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1339045	1339045	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:1339045T>A	uc003jch.3	-	3	575	c.529A>T	c.(529-531)Aac>Tac	p.N177Y	CLPTM1L_uc003jcg.3_Missense_Mutation_p.N44Y	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	177					apoptosis	integral to membrane		p.N177N(1)|p.L176L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCCATCACGTTCAGCGCCAGC	0.612000														52			42		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706744	49706744	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:49706744C>T	uc003jom.3	-	3	688	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	EMB_uc003jol.3_Missense_Mutation_p.E78K|EMB_uc011cpy.2_Missense_Mutation_p.E97K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	147	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TGTTCCTTTTCCTCTCGAAAG	0.308000														15			17		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186106059	186106059	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:186106059C>T	uc001grq.1	+	86	13801	c.13572C>T	c.(13570-13572)gtC>gtT	p.V4524V	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.V93V	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4524	Ig-like C2-type 44.				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						GAGTGCCAGTCATAGTCCAGG	0.398000														137			77		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164684	139164684	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:139164684T>C	uc003yuy.3	-	12	2205	c.2034A>G	c.(2032-2034)agA>agG	p.R678R	FAM135B_uc003yux.3_Silent_p.R579R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.R240R|FAM135B_uc003yvb.3_Silent_p.R240R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	678										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGATGAAGATCTCTTGATGA	0.537000										HNSCC(54;0.14)				76			55		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4442295	4442295	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:4442295G>A	uc002mal.3	+	13	2827	c.2727G>A	c.(2725-2727)gaG>gaA	p.E909E		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	909	Binds to p60.|Poly-Glu.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		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)		aggaggaagaggaggaggGCG	0.602000								Chromatin Structure						11			9		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813542	24813542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:24813542C>T	uc001iru.4	+	12	3150	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	KIAA1217_uc001irs.3_Missense_Mutation_p.S836F|KIAA1217_uc001irt.4_Missense_Mutation_p.S881F|KIAA1217_uc010qcy.2_Missense_Mutation_p.S881F|KIAA1217_uc010qcz.2_Missense_Mutation_p.S881F|KIAA1217_uc001irv.1_Missense_Mutation_p.S731F|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.S599F|KIAA1217_uc001irz.3_Missense_Mutation_p.S599F|KIAA1217_uc001irx.3_Missense_Mutation_p.S599F|KIAA1217_uc001iry.3_Missense_Mutation_p.S599F	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	916					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						GTGGCCAGCTCCCCAGCCGTC	0.632000														16			26		0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59926562	59926562	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:59926562G>A	uc002izk.2	-	4	741	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	145	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.A144T(1)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCTGTATATGGATGCCTGTT	0.333000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						52			19		0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149986663	149986664	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:149986663_149986664CC>TT	uc003wgu.2	-	3	362_363	c.172_173GG>AA	c.(172-174)gga>AAa	p.G58K	ACTR3C_uc022aps.1_Missense_Mutation_p.G58K	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	58					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										GATGCAGCTTCCAATTACATAA	0.500000														22			3		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577891	210577891	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:210577891C>T	uc010psr.2	+	4	660	c.555C>T	c.(553-555)agC>agT	p.S185S	HHAT_uc009xcx.3_Silent_p.S184S|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Silent_p.S119S|HHAT_uc010pss.2_Silent_p.S139S|HHAT_uc010pst.2_Silent_p.S121S|HHAT_uc001hhz.4_Silent_p.S184S|HHAT_uc021pip.1_Silent_p.S184S|HHAT_uc010psu.2_Silent_p.S119S	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	184					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCAGCTTCAGCCTGGAGCTCT	0.512000														44			55		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139703083	139703083	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:139703083C>T	uc003yvd.3	-	35	3236	c.2789G>A	c.(2788-2790)aGt>aAt	p.S930N	COL22A1_uc011ljo.2_Missense_Mutation_p.S230N	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	930	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGAGGGCCACTGGGACCGGG	0.562000										HNSCC(7;0.00092)				14			7		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769236	13769236	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:13769236C>T	uc003jfd.2	-	57	9772	c.9730G>A	c.(9730-9732)Gaa>Aaa	p.E3244K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3244	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)					ATTGTCACTTCTTTTAAGACC	0.403000									Kartagener syndrome					198			38		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157185862	157185863	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:157185862_157185863GG>AA	uc002tyz.4	-	2	1258_1259	c.836_837CC>TT	c.(835-837)acc>aTT	p.T279I	NR4A2_uc021vri.1_Missense_Mutation_p.T279I|NR4A2_uc002tyx.4_Missense_Mutation_p.T216I|NR4A2_uc010zcf.2_Missense_Mutation_p.T279I|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	279					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R278H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AGCCCTCACAGGTGCGCACGCC	0.678000														17			5		0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48906531	48906531	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:48906531T>C	uc003gyt.3	-	1	239	c.36A>G	c.(34-36)aaA>aaG	p.K12K	OCIAD2_uc003gyu.3_Silent_p.K12K	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	12	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AATGGGCATCTTTATCTTGGT	0.443000														65			52		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40662017	40662017	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:40662017C>T	uc001zlk.1	+	7	3793	c.3704C>T	c.(3703-3705)tCc>tTc	p.S1235F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1235					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGACCTCCTCCCCCTATAAG	0.701000														39			13		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072844	9072844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:9072844C>T	uc002mkp.3	-	2	14806	c.14602G>A	c.(14602-14604)Gaa>Aaa	p.E4868K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4870	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						GTGGTGTCTTCCATGGTGGAG	0.463000														98			79		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169263	138169263	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:138169263T>C	uc002tva.1	+	12	2687	c.2687T>C	c.(2686-2688)aTa>aCa	p.I896T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.I786T	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)		GATGAATTTATATCCCAACCT	0.463000														49			55		0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42175252	42175252	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:42175252C>T	uc003xow.2	+	11	1389	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	IKBKB_uc010lxh.2_Silent_p.I296I|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Silent_p.I122I|IKBKB_uc010lxj.2_Silent_p.I178I|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Silent_p.I399I|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Silent_p.I342I	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	401					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|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|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AGACTCAGATCTCCCCACGGC	0.408000														39			17		0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39141113	39141113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:39141113C>T	uc003xmt.4	+	23	2572	c.2327C>T	c.(2326-2328)tCa>tTa	p.S776L	ADAM32_uc011lch.2_Missense_Mutation_p.S677L|ADAM32_uc003xmu.4_Missense_Mutation_p.S618L|ADAM32_uc003xmv.3_Missense_Mutation_p.S148L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	776					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGATCCAAATCACAGGACAGT	0.284000														20			8		0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27225737	27225737	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:27225737G>A	uc002hde.4	-	4	983	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	FLOT2_uc002hdc.3_5'Flank|DHRS13_uc002hdd.4_Missense_Mutation_p.H236Y|DHRS13_uc010wba.2_Missense_Mutation_p.H205Y|AX795351_uc002hdf.3_Non-coding_Transcript	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	286						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCTTCCACATGGCAGTTGGCA	0.642000														37			12		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896636	77896636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:77896636G>A	uc002lnw.3	+	3	3795	c.3340G>A	c.(3340-3342)Gat>Aat	p.D1114N		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1114					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTTAGGCTTTGATATGTCTGA	0.294000														18			7		0	0	1	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423431	33423431	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:33423431C>T	uc003oeq.3	+	1	822	c.554C>T	c.(553-555)tCt>tTt	p.S185F	ZBTB9_uc021ywp.1_Missense_Mutation_p.S185F	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TCCTCTGCTTCTACTGAAAGC	0.547000														78			129		0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11400057	11400057	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:11400057C>T	uc003bwc.3	+	12	1567	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S	ATG7_uc003bwd.3_Missense_Mutation_p.P484S|ATG7_uc011aum.2_Missense_Mutation_p.P445S	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	484					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CCGGTGGCTTCCTGCCGTCAT	0.522000														33			18		0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90610492	90610492	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:90610492G>A	uc002bov.2	+	1	246	c.123G>A	c.(121-123)gaG>gaA	p.E41E		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E41K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TAAGCGCCGAGGCCTTCTACC	0.667000														20			8		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39172318	39172318	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:39172318G>A	uc003cjc.2	+	17	2644	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	TTC21A_uc011ayx.1_Missense_Mutation_p.E775K|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_5'Flank|TTC21A_uc003cjf.2_5'Flank	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	823							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAGGCACTGGAACATGACAT	0.468000														20			18		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68423854	68423854	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:68423854C>T	uc003xxq.4	-	3	610	c.354G>A	c.(352-354)aaG>aaA	p.K118K	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Silent_p.K118K	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	118					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGCTGCTTCCCTTCTCCAGTG	0.383000														121			73		0	0	1	0	0
TBPL2	387332	broad.mit.edu	37	14	55890921	55890921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:55890921C>T	uc001xby.3	-	5	1007	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	FBXO34_uc001xbv.3_Non-coding_Transcript	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	336					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CAACACAATTCGTGGTTTTAC	0.333000														65			14		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046394	73046394	+	RNA	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:73046394G>T	uc004ebn.2	+	0		c.34355G>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CATCTCAAAAGAATCAGGCTT	0.373000														14			87		2.43516e-34	2.5146e-34	1	1	0
HSPA4	3308	broad.mit.edu	37	5	132435264	132435264	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:132435264G>A	uc003kyj.3	+	15	2238	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	653					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAAACTGGAAGATACTGA	0.333000														31			9		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14859445	14859445	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:14859445G>A	uc003zlm.3	-	4	1183	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	123					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)		TAGACCCACAGGATAAAAGTT	0.408000														64			38		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158851213	158851213	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:158851213C>T	uc003woh.3	-	4	600	c.414G>A	c.(412-414)ctG>ctA	p.L138L	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.	138					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)		CAAGAGACATCAGAGAGACAC	0.398000														95			58		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933291	148933291	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:148933291G>A	uc010pbc.1	+	3		c.236_splice	c.e3-1		LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		CTGCCCGCAGGATATTGTGGC	0.557000														8			11		0	0	1	0	0
MXI1	4601	broad.mit.edu	37	10	112044685	112044685	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:112044685G>A	uc001kyy.3	+	5	1032	c.828G>A	c.(826-828)ccG>ccA	p.P276P	MXI1_uc001kyz.3_Silent_p.P163P|MXI1_uc001kza.3_Silent_p.P209P|MXI1_uc010qrc.2_Silent_p.P199P|MXI1_uc009xxv.3_Non-coding_Transcript	NM_130439	NP_569157	P50539	MXI1_HUMAN	Homo sapiens MAX interactor 1 (MXI1), transcript variant 2, mRNA.	209					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GCAGCCTGCCGAGTATTGGGA	0.458000														18			30		0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18845509	18845509	+	Silent	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:18845509A>G	uc004cyq.3	+	18	2347	c.1866A>G	c.(1864-1866)aaA>aaG	p.K622K	PPEF1_uc004cyp.3_Silent_p.K594K|PPEF1_uc004cyr.3_Silent_p.K560K|PPEF1_uc004cys.3_Silent_p.K622K|PPEF1_uc011mja.2_Silent_p.K557K|PPEF1_uc011mjb.2_Silent_p.K566K	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	622	EF-hand 3.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ACTTGAACAAAGATGGAAGCA	0.363000														5			65		0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111924602	111924603	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:111924602_111924603GG>AA	uc001tsj.3	-	15	2908_2909	c.2746_2747CC>TT	c.(2746-2748)ccc>TTc	p.P916F	ATXN2_uc001tsh.3_Missense_Mutation_p.P651F|ATXN2_uc001tsi.3_Missense_Mutation_p.P627F|ATXN2_uc001tsk.3_Non-coding_Transcript	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	916					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						CTTTGCATTGGGATTCAATGTT	0.337000														27			13		0	0	1	0	0
FAM3A	60343	broad.mit.edu	37	X	153736902	153736902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:153736902C>T	uc004flt.2	-	4	746	c.220G>A	c.(220-222)Ggc>Agc	p.G74S	FAM3A_uc011mzp.2_Missense_Mutation_p.G60S|FAM3A_uc022cih.1_Missense_Mutation_p.G22S|FAM3A_uc004flw.2_Missense_Mutation_p.G60S|FAM3A_uc004fls.2_Missense_Mutation_p.G60S	NM_001171133	NP_001164604	P98173	FAM3A_HUMAN	Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA.	60						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGGCAGGCCACACTTGTAC	0.642000														3			18		0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10417593	10417593	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:10417593G>A	uc004cte.4	-	9	2009	c.1819C>T	c.(1819-1821)Ctg>Ttg	p.L607L	MID1_uc004ctd.4_Silent_p.L318L|MID1_uc004ctg.4_Silent_p.L607L|MID1_uc004cth.4_Silent_p.L569L|MID1_uc004ctk.4_Silent_p.L607L|MID1_uc004ctj.4_Silent_p.L607L|MID1_uc004cti.4_Silent_p.L607L|MID1_uc004csz.4_Silent_p.L279L|MID1_uc004cta.4_Silent_p.L363L|MID1_uc004ctb.4_Silent_p.L267L|MID1_uc004ctc.4_Silent_p.L374L	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	607	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TAGTCCAGCAGGATGCCCACG	0.562000														10			108		0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4519332	4519333	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:4519332_4519333GG>AT	uc002cwm.3	-	2	330_331	c.174_175CC>AT	c.(172-177)gaccaa>gaATaa	p.58_59DQ>E*	NMRAL1_uc002cwn.3_Nonsense_Mutation_p.58_59DQ>E*|NMRAL1_uc002cwo.3_Nonsense_Mutation_p.58_59DQ>E*	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	Homo sapiens NmrA-like family domain containing 1 (NMRAL1), mRNA.	58						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						TGGTCATCTTGGTCTCCCTGCA	0.554000														140			34		0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66770010	66770010	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:66770010G>A	uc002eqb.1	-	4	698	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	DYNC1LI2_uc010vis.1_Silent_p.L146L|DYNC1LI2_uc010vit.2_Silent_p.L223L|DYNC1LI2_uc010viu.2_Silent_p.L184L	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	223					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GGGATCCCCAGGTTATGAGTC	0.552000														32			30		0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116698068	116698068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:116698068C>T	uc001lcd.3	+	0	117	c.56C>T	c.(55-57)tCc>tTc	p.S19F	TRUB1_uc010qsl.2_Intron	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	19					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)		ACAGACACATCCCCTGTCCTT	0.617000														13			26		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209969723	209969723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:209969723G>A	uc001hhq.2	-	3	653	c.349C>T	c.(349-351)Cct>Tct	p.P117S	IRF6_uc010psm.2_Missense_Mutation_p.P22S	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	117					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGGCTGAGGGATGTCACAC	0.532000										HNSCC(57;0.16)				57			19		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18895154	18895154	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:18895154C>T	uc002nke.3	-	16	1970	c.1934G>A	c.(1933-1935)gGc>gAc	p.G645D	COMP_uc002nkd.3_Missense_Mutation_p.G612D|COMP_uc010xqj.2_Missense_Mutation_p.G592D	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	645	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTCCCCGGGGCCTGTGGAAGA	0.622000														48			29		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737583	13737583	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:13737583G>A	uc003jfd.2	-	65	11275	c.11233C>T	c.(11233-11235)Cat>Tat	p.H3745Y	DNAH5_uc003jfc.2_Intron	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3745	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATCAGATGAGTTCTTTCT	0.373000									Kartagener syndrome					37			21		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699234	49699234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:49699234C>T	uc003jom.3	-	5	904	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	EMB_uc010ivq.3_Missense_Mutation_p.E13K|EMB_uc003jol.3_Missense_Mutation_p.E150K|EMB_uc011cpy.2_Missense_Mutation_p.E169K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	219	Ig-like V-type 2.					integral to membrane		p.E219K(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AGCTTTGTTTCGTTAGCATAT	0.378000														48			26		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64608152	64608152	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:64608152G>A	uc001dbj.2	+	6	1392	c.993G>A	c.(991-993)ggG>ggA	p.G331G	ROR1_uc001dbi.4_Silent_p.G331G|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	331	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAAATCAGGGCGCCAGTGCC	0.512000														57			24		0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142772593	142772593	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:142772593G>T	uc003evh.1	+	25	2830	c.2731G>T	c.(2731-2733)Gac>Tac	p.D911Y	U2SURP_uc003evi.1_Missense_Mutation_p.D502Y|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.D910Y|U2SURP_uc003evl.1_Missense_Mutation_p.D478Y	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	911	Glu-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCGCTCCAAAGACAAGAAGGA	0.323000														12			5		0.0215528	0.0215528	1	1	0
POLE	5426	broad.mit.edu	37	12	133241935	133241935	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:133241935G>A	uc001uks.1	-	20	2465	c.2421C>T	c.(2419-2421)gcC>gcT	p.A807A	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A780A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	807					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)		TGCACTTGTGGGCCAGCTGCA	0.607000								DNA polymerases (catalytic subunits)						91			78		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160176811	160176811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:160176811C>T	uc002uao.3	-	36	6877	c.6472G>A	c.(6472-6474)Gaa>Aaa	p.E2158K	BAZ2B_uc002uap.3_Missense_Mutation_p.E2122K|BAZ2B_uc021vrs.1_Non-coding_Transcript	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	2158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CACTTTTTTTCAAAATACTTC	0.343000														12			16		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3649484	3649485	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:3649484_3649485GG>AA	uc001akp.3	+	13	1862_1863	c.1752_1753GG>AA	c.(1750-1755)gaggcc>gaAAcc	p.A585T	TP73_uc021ofb.1_3'UTR|TP73_uc021ofc.1_3'UTR|TP73_uc021ofd.1_3'UTR|TP73_uc021ofe.1_Missense_Mutation_p.A489T|TP73_uc021off.1_Missense_Mutation_p.A504T|TP73_uc021ofg.1_Missense_Mutation_p.A440T|TP73_uc021ofh.1_Missense_Mutation_p.A455T|TP73_uc021ofi.1_3'UTR|TP73_uc001akr.3_Missense_Mutation_p.A536T|TP73_uc009vlk.2_3'UTR|TP73_uc001aks.3_3'UTR|TP73_uc010nzk.2_Missense_Mutation_p.A514T|TP73_uc010nzl.2_Missense_Mutation_p.A134T	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	585					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|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGGTCATGGAGGCCGTGCACTT	0.708000														21			12		0	0	1	0	0
PDCD7	10081	broad.mit.edu	37	15	65411746	65411747	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:65411746_65411747GG>AA	uc002aol.3	-	3	1356_1357	c.1301_1302CC>TT	c.(1300-1302)gcc>gTT	p.A434V		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	Homo sapiens programmed cell death 7 (PDCD7), mRNA.	434					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GGGAGTGCTCGGCTTGGAGATA	0.495000														16			10		0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060575	139060575	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:139060575C>T	uc010jfg.1	+	1	757	c.467C>T	c.(466-468)gCc>gTc	p.A156V	CXXC5_uc003let.2_Missense_Mutation_p.A156V	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	156					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGCAGCCGAGGGACAG	0.642000														85			71		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455385	187455385	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:187455385C>T	uc003izd.1	-	1	529	c.511G>A	c.(511-513)Gac>Aac	p.D171N		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	171					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity	p.Y170Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ATCCTCGGGTCGTACTGGAGA	0.597000														80			61		0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53468952	53468952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:53468952G>A	uc001sbt.2	-	3	385	c.298C>T	c.(298-300)Cct>Tct	p.P100S	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	100	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TAGTACTGAGGGACCAGCCCC	0.582000														99			61		0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105112607	105112607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:105112607C>T	uc010lji.3	-	9	1235	c.1227G>A	c.(1225-1227)atG>atA	p.M409I	PUS7_uc003vcx.3_Missense_Mutation_p.M403I|PUS7_uc003vcy.3_Missense_Mutation_p.M403I|PUS7_uc003vcz.1_Missense_Mutation_p.M403I	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	403	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ATATTAAATCCATGACTTCTG	0.274000														13			5		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169582290	169582290	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:169582290C>T	uc001ggi.4	-	4	717	c.652G>A	c.(652-654)Gga>Aga	p.G218R	SELP_uc001ggh.3_Missense_Mutation_p.G53R|SELP_uc009wvr.3_Missense_Mutation_p.G218R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	218	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.L217M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GAGAAGTTTCCCAGAGGGTGG	0.488000														93			15		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77119463	77119463	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:77119463G>A	uc002lmx.3	+	26	3026	c.3012_splice	c.e26+1	p.K1004_splice	ATP9B_uc002lmw.1_Splice_Site_p.K1004_splice|ATP9B_uc002lmz.1_Missense_Mutation_p.V699I|ATP9B_uc002lna.3_Splice_Site_p.K30_splice|ATP9B_uc002lnb.1_Splice_Site_p.G103_splice|ATP9B_uc010drb.3_Splice_Site	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1004					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.?(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCTCACCAAGGTACGGGCCTC	0.537000														13			8		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026573	37026573	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:37026573C>T	uc004ddl.2	+	0	142	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	30								p.F30F(5)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGTACTTCGCGAAGCGCA	0.642000														40			14		0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70703161	70703161	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:70703161C>A	uc001des.3	+	6	768	c.644C>A	c.(643-645)tCt>tAt	p.S215Y	SRSF11_uc001det.3_Missense_Mutation_p.S215Y|SRSF11_uc001deu.2_Missense_Mutation_p.S215Y|SRSF11_uc001dev.3_Missense_Mutation_p.S25Y|SRSF11_uc001dew.3_Missense_Mutation_p.S155Y	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	215					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(3)|ovary(2)|skin(1)	6						TCGGATACCTCTAGTAAAGAA	0.373000														23			34		1.42033e-22	1.46071e-22	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1275419	1275419	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:1275419C>T	uc001lta.3	+	33	15374	c.15315C>T	c.(15313-15315)atC>atT	p.I5105I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5105	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGAGAGAGATCCATGCACGCT	0.622000														34			21		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797183	57797183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:57797183C>T	uc003hch.3	+	3	2506	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	REST_uc003hci.3_Missense_Mutation_p.P720L|REST_uc010ihf.3_Missense_Mutation_p.P394L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	720	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GAATCTGCTCCCATGCAGGTG	0.587000														225			173		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679643	79679643	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:79679643G>A	uc001sys.3	+	5	914	c.243G>A	c.(241-243)aaG>aaA	p.K81K	SYT1_uc001syt.3_Silent_p.K81K|SYT1_uc001syu.3_Silent_p.K81K|SYT1_uc001syv.3_Silent_p.K81K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	81					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GTATCTGTAAGAAATGTTTGT	0.408000														39			36		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236730160	236730160	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:236730160G>A	uc001hyd.2	-	29	4246	c.4094C>T	c.(4093-4095)tCt>tTt	p.S1365F	HEATR1_uc009xgh.2_Missense_Mutation_p.S527F	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1365					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTATAGAATCTCCACT	0.433000														43			26		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186158758	186158758	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:186158758C>T	uc001grq.1	+	106	16885	c.16656C>T	c.(16654-16656)atC>atT	p.I5552I	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.I1004I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5552					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						AAGATTTAATCCGGCTGGTTG	0.468000														65			10		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702324	27702324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:27702324G>A	uc001itu.2	-	0	974	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	286					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTGTAGGCGGGGAAGGAGATG	0.632000														35			24		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687590	60687590	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:60687590C>T	uc002sae.1	-	3	2685	c.2457G>A	c.(2455-2457)atG>atA	p.M819I	BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.M667I|BCL11A_uc002saf.1_Missense_Mutation_p.M785I	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	819					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCCATTTTTTCATGTGTTTCT	0.428000			T	IGH@	B-CLL									69			22		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86869444	86869444	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:86869444C>T	uc004efa.2	+	2	780	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	KLHL4_uc004efb.2_Missense_Mutation_p.L200F	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	200	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.V199F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CAGGTTGGTTCTCAGCGCAGT	0.373000														41			7		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164727088	164727088	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:164727088C>T	uc003fei.3	-	34	4221	c.4158G>A	c.(4156-4158)atG>atA	p.M1386I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1386	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATCAAACTTCATCTTTTCAT	0.373000										HNSCC(35;0.089)				18			14		0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160253349	160253349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:160253349G>A	uc003fdn.3	-	4	545	c.239C>T	c.(238-240)gCt>gTt	p.A80V		NM_002268	NP_002259	O00629	IMA4_HUMAN	Homo sapiens karyopherin alpha 4 (importin alpha 3) (KPNA4), mRNA.	80					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATCACTTGAAGCATTCtataa	0.318000														11			5		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22171661	22171661	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:22171661C>T	uc021urr.1	-	1	203	c.54G>A	c.(52-54)tgG>tgA	p.W18*	ZNF208_uc002nqo.1_Nonsense_Mutation_p.W18*|ZNF208_uc002nqq.3_Non-coding_Transcript	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)				CCAGGCATTGCCACTCCTCCA	0.403000														133			49		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27240412	27240412	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:27240412C>T	uc001bnf.3	-	0	156	c.20G>A	c.(19-21)gGg>gAg	p.G7E	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	7					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGGGCAGGCCCCTGGTTGGCT	0.607000														34			38		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195475900	195475900	+	Missense_Mutation	SNP	C	T	T	rs143578760	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:195475900C>T	uc021xjp.1	-	23	16063	c.15907G>A	c.(15907-15909)Gat>Aat	p.D5303N	MUC4_uc010hzq.3_Missense_Mutation_p.D160N|MUC4_uc003fuz.3_Missense_Mutation_p.D901N|MUC4_uc003fva.3_Missense_Mutation_p.D783N|MUC4_uc003fvb.3_Missense_Mutation_p.D819N|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.D819N|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.D812N|MUC4_uc021xjn.1_Missense_Mutation_p.D992N|MUC4_uc021xjo.1_Missense_Mutation_p.D783N|MUC4_uc021xjg.1_Missense_Mutation_p.D783N|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.D867N|MUC4_uc021xjj.1_Missense_Mutation_p.D867N|MUC4_uc021xjk.1_Missense_Mutation_p.D1044N|MUC4_uc021xjl.1_Missense_Mutation_p.D783N|MUC4_uc003fvo.3_Missense_Mutation_p.D1067N|MUC4_uc003fvp.3_Missense_Mutation_p.D1016N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2060					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)		TTGTAGCCATCGCATCTGAAG	0.547000														11			6		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476401	17476401	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:17476401C>T	uc002ngk.1	-	2	913	c.873G>A	c.(871-873)cgG>cgA	p.R291R		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	291						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGATATCCGCCCGGAGGCTCC	0.662000														38			33		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121351959	121351959	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:121351959C>T	uc003eeh.4	-	10	1088	c.963G>A	c.(961-963)agG>agA	p.R321R	HCLS1_uc011bjj.2_Silent_p.R284R|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	321					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTGGGTGTTCCCTGCTGGTTC	0.552000														10			6		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47118862	47118862	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:47118862C>T	uc002iom.3	+	8	1275	c.941_splice	c.e8+1	p.S314_splice	IGF2BP1_uc010dbj.3_Splice_Site_p.S175_splice	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	314	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.?(1)|p.S314L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACCATCTCCTCGTAAGGCTCT	0.463000														31			14		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45386800	45386800	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:45386800G>A	uc001zun.3	-	32	4688	c.4485C>T	c.(4483-4485)ttC>ttT	p.F1495F	DUOX2_uc010bea.3_Silent_p.F1495F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1495					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGAAGGGCTCGAAGGGGGGAC	0.637000														20			13		0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661628	180661629	+	Silent	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:180661628_180661629CC>TT	uc003mne.2	+	5	2483_2484	c.1746_1747CC>TT	c.(1744-1749)tacctg>taTTtg	p.582_583YL>YL	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Silent_p.162_163YL>YL	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	582	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGTGTGTACCTGGACTATGA	0.594000														105			62		0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478025	79478025	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:79478025G>A	uc002kak.2	-	4	1170	c.912C>T	c.(910-912)acC>acT	p.T304T	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Silent_p.T304T|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	304					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCGGGTACATGGTGGTGCCGC	0.607000														110			32		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38213255	38213255	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:38213255C>T	uc010abx.3	-	9	2383	c.2148G>A	c.(2146-2148)agG>agA	p.R716R	TRPC4_uc010abv.3_Silent_p.R291R|TRPC4_uc001uwt.3_Silent_p.R711R|TRPC4_uc001uws.3_Silent_p.R711R|TRPC4_uc010tey.2_Silent_p.R711R|TRPC4_uc010abw.3_Silent_p.R538R|TRPC4_uc010aby.3_Silent_p.R646R	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	711	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCACCAGGTTCCTCATAACTT	0.393000														165			38		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112725720	112725720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:112725720C>T	uc002thk.1	+	5	973	c.851C>T	c.(850-852)cCc>cTc	p.P284L	MERTK_uc002thl.1_Missense_Mutation_p.P108L	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	284	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCAGCAATTCCCTCCCCACCA	0.443000														30			20		0	0	1	0	0
LHX4	89884	broad.mit.edu	37	1	180217586	180217586	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:180217586C>T	uc001goe.2	+	1	475	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	81	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						AGGAGGACTTCTTCAAGTAAG	0.612000														40			45		0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719371	145719371	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:145719371G>A	uc003loa.2	+	1	470	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	127					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCCCACGCTGAGTGTGAGCG	0.687000														58			23		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208565	138208565	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:138208565C>T	uc002tva.1	+	13	3017	c.3017C>T	c.(3016-3018)cCa>cTa	p.P1006L	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)		GGAGGACGACCATGTCCCAAA	0.388000														10			3		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381529	81381529	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:81381529G>A	uc003uhl.3	-	4	697	c.532C>T	c.(532-534)Cga>Tga	p.R178*	HGF_uc003uhm.3_Nonsense_Mutation_p.R173*|HGF_uc003uhn.1_Nonsense_Mutation_p.R178*|HGF_uc003uho.1_Nonsense_Mutation_p.R173*|HGF_uc003uhp.3_Nonsense_Mutation_p.R178*	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	178	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CGAGGATTTCGACAGTAGTTT	0.418000														33			34		0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77672120	77672120	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:77672120G>A	uc001oys.3	-	4	564	c.536C>T	c.(535-537)tCt>tTt	p.S179F	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.S179F	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	179					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTTCTCCAAAGAGCCAAGATT	0.388000														34			69		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642634	179642634	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179642634C>T	uc021vsy.1	-	24	4502	c.4277G>A	c.(4276-4278)aGg>aAg	p.R1426K	TTN_uc021vsz.1_Missense_Mutation_p.R1380K|TTN_uc021vta.1_Missense_Mutation_p.R1380K|TTN_uc021vtb.1_Missense_Mutation_p.R1380K|TTN_uc002unb.2_Missense_Mutation_p.R1426K|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1426	ZIS5.						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)			AGGAGACATCCTTGCAGGTGA	0.493000														25			25		0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183814198	183814198	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:183814198G>A	uc003ivf.3	-	4	618	c.444C>T	c.(442-444)gcC>gcT	p.A148A	DCTD_uc003ivg.3_Silent_p.A159A|DCTD_uc010irw.3_Silent_p.A89A|DCTD_uc003ivh.3_Silent_p.A89A	NM_001921	NP_001912	P32321	DCTD_HUMAN	Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA.	148					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			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)		ATGTCACCCCGGCCATATTAA	0.493000														10			9		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187520	152187520	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:152187520G>A	uc001ezt.1	-	2	6661	c.6585C>T	c.(6583-6585)tcC>tcT	p.S2195S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2195					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGCTGGAGGAGTGCCCCG	0.627000														489			62		0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126073177	126073177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:126073177C>T	uc003qad.3	+	2	378	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	BC036196_uc003qac.3_5'Flank|HEY2_uc011ebr.2_Missense_Mutation_p.R17W	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	63	Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCGTCGGGATCGGATAAATAA	0.388000														32			29		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661423	40661424	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:40661423_40661424GG>AA	uc011aor.2	+	4	1400_1401	c.1189_1190GG>AA	c.(1189-1191)gga>AAa	p.G397K	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.G397K|TNRC6B_uc003ayo.3_Missense_Mutation_p.G201K	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	397					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						AATGCCCTTTGGAATGGGCTTG	0.490000														35			20		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24916417	24916417	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:24916417C>T	uc003aaf.3	+	6	2149	c.854C>T	c.(853-855)gCc>gTc	p.A285V	UPB1_uc003aae.3_Missense_Mutation_p.A217V|UPB1_uc021wnh.1_Non-coding_Transcript	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	285	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TTCACCTGCGCCATCAATCGA	0.612000														15			12		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235009	100235009	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:100235009G>A	uc003hus.4	-	5	881	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ADH1B_uc003hut.4_Missense_Mutation_p.S226L|ADH1B_uc011ceh.2_Missense_Mutation_p.S111L|ADH1B_uc011cei.1_Missense_Mutation_p.S226L	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	266					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.S266L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000														300			60		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110222242	110222242	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:110222242C>T	uc001tpj.2	-	14	2432	c.2337_splice	c.e14-1	p.R779_splice	TRPV4_uc001tpg.2_Splice_Site_p.R745_splice|TRPV4_uc021rdp.1_Splice_Site_p.R719_splice|TRPV4_uc001tph.2_Splice_Site_p.R732_splice|TRPV4_uc001tpi.2_Splice_Site_p.R672_splice|TRPV4_uc001tpk.2_Splice_Site_p.R779_splice	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	779					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTCATCCACCCTGGCAGGGC	0.527000														57			45		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890595	70890595	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:70890595G>A	uc021vjc.1	-	15	2408	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Silent_p.L715L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	715	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTCTTTTTCAGGAAGGAGGGG	0.542000														58			86		0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4447579	4447579	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:4447579G>A	uc002man.2	-	5	680	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	UBXN6_uc002mam.2_Missense_Mutation_p.R142W	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	195	PUB.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTGATCTTCCGGTACTTCTCC	0.677000														75			50		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103275927	103275927	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:103275927C>T	uc022ajr.1	-	18	2570	c.2410G>A	c.(2410-2412)Ggg>Agg	p.G804R	RELN_uc022ajq.1_Missense_Mutation_p.G804R|RELN_uc010liz.3_Missense_Mutation_p.G804R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	804					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGTTATCCCATTATCATAA	0.433000														72			19		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313123	54313123	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:54313123C>T	uc002qcj.4	-	2	2010	c.1790G>A	c.(1789-1791)aGc>aAc	p.S597N	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.S597N|NLRP12_uc002qci.4_Missense_Mutation_p.S597N|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.S597N	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	597					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.Q596*(1)		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)		CTGAGCTTTGCTTTGGATCCA	0.572000														64			23		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528219	157528219	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:157528219C>T	uc003qqp.3	+	18	5905	c.5905C>T	c.(5905-5907)Cac>Tac	p.H1969Y	ARID1B_uc003qqo.3_Missense_Mutation_p.H1982Y|ARID1B_uc003qqn.3_Missense_Mutation_p.H2022Y	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1969					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATTCTTCTTCACCACGAGCA	0.537000														47			32		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85573824	85573824	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:85573824T>A	uc001dkt.3	+	14	1853	c.1662T>A	c.(1660-1662)ttT>ttA	p.F554L	WDR63_uc009wcl.3_Missense_Mutation_p.F515L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	554										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CATCTACTTTTTTGCATCTGG	0.378000														57			21		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78899217	78899217	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:78899217C>T	uc002jyt.1	+	23	3661	c.2856C>T	c.(2854-2856)tcC>tcT	p.S952S	RPTOR_uc010wug.1_Silent_p.S794S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	952					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTTTCATCTCCGCCACGGTGC	0.577000														27			24		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:137206693G>A	uc003vtt.3	-	20	2168	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	DGKI_uc003vtu.3_Missense_Mutation_p.R423C	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000														24			7		0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44101481	44101481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:44101481C>T	uc004dgb.4	-	7	1255	c.1166G>A	c.(1165-1167)aGg>aAg	p.R389K	EFHC2_uc022bvg.1_5'UTR	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	389							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TGGAAATTTCCTTTCTATTTT	0.408000														0			10		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113933898	113933898	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:113933898C>T	uc003ynu.3	-	9	1750	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	CSMD3_uc003ynt.3_Missense_Mutation_p.E491K|CSMD3_uc011lhx.2_Missense_Mutation_p.E427K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	531	Sushi 2.					integral to membrane|plasma membrane		p.E531K(2)|p.E491K(1)|p.E531D(1)		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						GCAAAAACTTCAGCTATCCGT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				51			37		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70557456	70557456	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:70557456C>T	uc002ezc.3	-	1	1	c.-10_splice	c.e1-1		COG4_uc002ezd.3_Splice_Site|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTCGGCACTTCCGGTCCCGCG	0.582000														33			13		0	0	1	0	0
C2orf62	375307	broad.mit.edu	37	2	219232161	219232161	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:219232161G>A	uc002vhr.3	+	8	870	c.841G>A	c.(841-843)Gag>Aag	p.E281K	BC038211_uc002vht.3_Intron	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	281										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGAGATTGAGCCACGCCC	0.572000														68			66		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118243074	118243074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:118243074G>A	uc004era.4	-	4	742	c.742C>T	c.(742-744)Cct>Tct	p.P248S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	248										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCATAGAAGGAAACATTTTA	0.493000														5			25		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761920	164761920	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:164761920C>G	uc001gct.3	+	2	918	c.455C>G	c.(454-456)gCc>gGc	p.A152G	PBX1_uc010pku.2_Missense_Mutation_p.A152G|PBX1_uc001gcs.3_Missense_Mutation_p.A152G|PBX1_uc010pkv.2_Missense_Mutation_p.A69G|PBX1_uc010pkw.1_Missense_Mutation_p.A42G	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	152					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GATTACAGAGCCAAACTCTCA	0.597000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									84			17		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373699	81373699	+	Missense_Mutation	SNP	C	T	T	rs139806726	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:81373699C>T	uc009xry.3	+	5	704	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	SFTPA1_uc001kap.3_Missense_Mutation_p.P193S|SFTPA1_uc001kar.3_Missense_Mutation_p.P193S|SFTPA1_uc001kaq.3_Missense_Mutation_p.P193S|SFTPA1_uc001kao.3_Missense_Mutation_p.P159S|SFTPA1_uc021puu.1_Missense_Mutation_p.P144S|SFTPA1_uc010qlt.2_Missense_Mutation_p.P134S|SFTPA1_uc009xrz.3_Missense_Mutation_p.P123S	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	193	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GACTGAGGGTCCCAGCCCTGG	0.562000														56			123		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76870457	76870458	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:76870457_76870458GA>AT	uc002lmx.3	+	2	410_411	c.396_397GA>AT	c.(394-399)aggaat>agATat	p.N133Y	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.N133Y|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_5'Flank|ATP9B_uc002lmu.3_Missense_Mutation_p.N133Y	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	133					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		AACATCCCAGGAATTCTATAAA	0.396000														21			7		0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526804	16526804	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:16526804G>A	uc010cpi.2	-	5	1488	c.1396C>T	c.(1396-1398)Cat>Tat	p.H466Y	ZNF624_uc021tre.1_Missense_Mutation_p.H340Y	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTCCAGTATGAATCCTCTGA	0.383000														44			18		0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44139976	44139976	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:44139976C>T	uc001jbb.3	-	2	533	c.344G>A	c.(343-345)aGg>aAg	p.R115K	ZNF32-AS3_uc001jba.2_Intron|ZNF32_uc001jbc.3_Missense_Mutation_p.R115K	NM_001005368	NP_008904	P17041	ZNF32_HUMAN	Homo sapiens zinc finger protein 32 (ZNF32), transcript variant 2, mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GCCTTTGGCCCTGAAGCTTTT	0.468000														9			27		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83712043	83712043	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:83712043C>A	uc010vns.2	+	10	1920	c.1656C>A	c.(1654-1656)gaC>gaA	p.D552E	CDH13_uc002fgx.3_Missense_Mutation_p.D505E|CDH13_uc010vnt.2_Missense_Mutation_p.D251E|CDH13_uc010vnu.2_Missense_Mutation_p.D466E	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	505	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGACCCCGACTCCCTGCAGC	0.607000														36			12		3.07112e-06	3.09865e-06	1	1	0
TCR-alpha	0	broad.mit.edu	37	14	22574151	22574151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:22574151C>T	uc001wdb.2	+	1	408	c.371C>T	c.(370-372)cCa>cTa	p.P124L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					SubName: Full=cDNA FLJ59026;																		ACCTGCAGCCCATACGCAAAC	0.453000														11			10		0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315293	73315293	+	Nonsense_Mutation	SNP	C	A	A	rs59033238		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:73315293C>A	uc002siu.4	-	2	1694	c.1453G>T	c.(1453-1455)Gaa>Taa	p.E485*	RAB11FIP5_uc002sit.4_Nonsense_Mutation_p.E407*	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	485					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCCCCCTTTTCCCCCAGAGAG	0.627000														68			69		3.07184e-27	3.16559e-27	1	1	0
GRB14	2888	broad.mit.edu	37	2	165383642	165383642	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:165383642C>T	uc002ucl.3	-	3	1026	c.485G>A	c.(484-486)aGa>aAa	p.R162K	GRB14_uc010zcv.2_Missense_Mutation_p.R75K	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	162	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTATTGTTCTTTCTGTAAA	0.274000														15			14		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243472	46243472	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:46243472C>T	uc001ros.1	+	13	1825	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q609*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q65*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q236*|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	609					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACTTCCCATTCAGATGTACTA	0.438000			"""N, S, F"""		hepatocellular carcinoma									132			71		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156875116	156875116	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:156875116G>A	uc001fqj.1	+	4	323	c.207_splice	c.e4-1	p.T69_splice	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	69	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTCCGCAGGGTTGTATACC	0.652000														32			44		0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455284	44455284	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:44455284G>A	uc010acg.3	+	1	648	c.163G>A	c.(163-165)Gat>Aat	p.D55N	CCDC122_uc010acf.3_5'Flank|LACC1_uc001uzf.4_Missense_Mutation_p.D55N	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	55																	CTATGAAAGGGATGGAGAACA	0.408000														68			12		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441477	52441477	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:52441477C>T	uc003ddx.3	-	6	491	c.376_splice	c.e6-1	p.S126_splice	BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	126					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATCCTTTGCTCTACGGGGAAG	0.537000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								34			17		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063013	46063013	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:46063013G>A	uc003cpe.3	-	2	651	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.L143F|XCR1_uc021wwx.1_Missense_Mutation_p.L143F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	143					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CGGCAGCGGAGGGTGGGGACG	0.607000														13			6		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18524130	18524130	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:18524130G>A	uc001rdt.3	+	11	1758	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E589K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E367K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	548					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)				TTTTCCCCTTGAAATAAAGTC	0.378000														11			14		0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15484042	15484042	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:15484042C>A	uc002nav.3	-	4	551	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	161					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CCATTGCGGTCGGACCCCAGG	0.667000														39			29		3.69857e-22	3.796e-22	1	1	0
MDN1	23195	broad.mit.edu	37	6	90428268	90428269	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:90428268_90428269GG>AA	uc003pnn.1	-	42	6515_6516	c.6399_6400CC>TT	c.(6397-6402)ctcctt>ctTTtt	p.L2134F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2134					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCACTGATAAGGAGGCTATCCC	0.465000														47			38		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49665577	49665577	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:49665577G>A	uc003ozn.2	-	7	747	c.511C>T	c.(511-513)Cct>Tct	p.P171S	CRISP2_uc003ozr.2_Missense_Mutation_p.P171S|CRISP2_uc003ozo.2_Missense_Mutation_p.P171S|CRISP2_uc003ozm.2_Missense_Mutation_p.P171S|CRISP2_uc003ozp.2_Missense_Mutation_p.P171S|CRISP2_uc003ozq.2_Missense_Mutation_p.P171S|CRISP2_uc003ozl.2_Missense_Mutation_p.P171S	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	171						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACTTACGCAGGACAATATTGG	0.338000														61			69		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89924543	89924543	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:89924543C>T	uc003kju.3	+	7	1499	c.1403C>T	c.(1402-1404)cCt>cTt	p.P468L	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	468	Calx-beta 4.				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)		GCAACAATTCCTCTTACTGTG	0.473000														80			31		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419227	123419227	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:123419227T>C	uc003ego.3	-	17	3370	c.3088A>G	c.(3088-3090)Aag>Gag	p.K1030E	MYLK_uc011bjw.2_Missense_Mutation_p.K1030E|MYLK_uc003egp.3_Missense_Mutation_p.K961E|MYLK_uc003egq.3_Missense_Mutation_p.K1030E|MYLK_uc003egr.3_Missense_Mutation_p.K961E|MYLK_uc003egs.3_Missense_Mutation_p.K854E|MYLK_uc003egt.3_Missense_Mutation_p.K221E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1030	6 X 12 AA approximate tandem repeats.				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)		TCAGCAGGCTTGGCGTTGCCC	0.602000														108			50		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645873	20645873	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:20645873G>C	uc001ytg.3	-	19	2912	c.2203C>G	c.(2203-2205)Cgg>Ggg	p.R735G	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.R735G|HERC2P3_uc010tyy.2_Missense_Mutation_p.R735G					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						CACCAGCTCCGGTGTTGCTCC	0.552000														45			14		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233490615	233490615	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:233490615C>T	uc001hvt.4	+	3	1430	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	KIAA1804_uc001hvs.1_Missense_Mutation_p.S390L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	390	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				ATTCGTCCATCGTTTGCCTTA	0.383000														102			40		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834758	61834759	+	Missense_Mutation	DNP	GG	AA	AA	rs148684762		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:61834758_61834759GG>AA	uc002yeh.3	-	3	827_828	c.533_534CC>TT	c.(532-534)ccc>cTT	p.P178L	YTHDF1_uc011aaq.2_Missense_Mutation_p.P128L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	178										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGTTCATCCCGGGGGCCTTGCT	0.653000														37			29		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793336	140793337	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140793336_140793337GG>AA	uc003lkl.2	+	0	594_595	c.594_595GG>AA	c.(592-597)ctggta>ctAAta	p.V199I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.V199I	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	195	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)			ACCCGGAGCTGGTACTGGAGCA	0.594000														19			21		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263618	34263618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:34263618C>T	uc002nus.4	+	4	1430	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S	CHST8_uc002nut.4_Missense_Mutation_p.P309S|CHST8_uc002nuu.3_Missense_Mutation_p.P309S	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	309					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)					GGTGCGTTTTCCCGAGTTCGT	0.652000														43			12		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649532	47649532	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:47649532C>T	uc010jzj.1	+	5	1238	c.1237C>T	c.(1237-1239)Caa>Taa	p.Q413*	GPR111_uc003oyy.3_Nonsense_Mutation_p.Q345*	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	413	GPS.				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						CAAAATGATTCAAGAAAACTC	0.443000														97			36		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31366706	31366707	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:31366706_31366707CC>TT	uc004dda.1	-	60	9373_9374	c.9129_9130GG>AA	c.(9127-9132)agggac>agAAac	p.D3044N	DMD_uc004dcq.1_Missense_Mutation_p.D315N|DMD_uc004dcr.1_Missense_Mutation_p.D584N|DMD_uc004dcs.1_Missense_Mutation_p.D584N|DMD_uc004dct.1_Missense_Mutation_p.D584N|DMD_uc004dcu.1_Missense_Mutation_p.D584N|DMD_uc004dcv.1_Missense_Mutation_p.D584N|DMD_uc004dcw.2_Missense_Mutation_p.D1700N|DMD_uc004dcx.2_Missense_Mutation_p.D1703N|DMD_uc004dcz.2_Missense_Mutation_p.D2921N|DMD_uc004dcy.1_Missense_Mutation_p.D3040N|DMD_uc004ddb.1_Missense_Mutation_p.D3036N	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3044					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	p.R3039>?(1)|p.R583>?(1)|p.R3038>?(1)		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)				GGACCAAAGTCCCTGTGGGCTT	0.411000														17			11		0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31711578	31711578	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:31711578G>A	uc001utl.3	-	17	2731	c.2460C>T	c.(2458-2460)ggC>ggT	p.G820G	HSPH1_uc001utj.3_Silent_p.G818G|HSPH1_uc001utk.3_Silent_p.G774G|HSPH1_uc010aaw.3_Silent_p.G777G|HSPH1_uc010tds.2_Silent_p.G742G	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	818					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CAATATTTGGGCCATTTGGAG	0.348000														34			25		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80038708	80038709	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:80038708_80038709GG>AA	uc002kdu.3	-	38	6802_6803	c.6685_6686CC>TT	c.(6685-6687)ccc>TTc	p.P2229F	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2229	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CATCAGGGTGGGGCCCTCCGGG	0.663000														16			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188662	140188662	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140188662G>A	uc003lhi.2	+	0	1991	c.1890G>A	c.(1888-1890)gaG>gaA	p.E630E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.E630E|PCDHAC2_uc011daa.2_Silent_p.E630E	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	641	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D629N(1)		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)			ACACTGGCGAGATCAGCACAA	0.682000														99			38		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633540	106633540	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:106633540G>A	uc001tlk.3	-	1	1155	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	357						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCTCAGACCTGAGAAGCTTCT	0.667000														45			24		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4790283	4790283	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:4790283C>T	uc002cxn.3	+	3	868	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	136										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGTCAGCGCTCTTCTTGGGAT	0.582000														103			28		0	0	1	0	0
RAP1B	5908	broad.mit.edu	37	12	69050130	69050130	+	Silent	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:69050130A>G	uc001sub.3	+	5	609	c.369A>G	c.(367-369)gaA>gaG	p.E123E	RAP1B_uc010ste.2_Silent_p.E57E|RAP1B_uc001suc.3_Silent_p.E123E|RAP1B_uc010stf.2_Silent_p.E104E|RAP1B_uc010stg.2_Silent_p.E81E|RAP1B_uc010sth.2_Silent_p.E81E|RAP1B_uc010sti.2_Silent_p.E76E	NM_015646	NP_056461	P61224	RAP1B_HUMAN	Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA.	123					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGGAAGATGAAAGAGTTGTAG	0.308000														64			46		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001595	172001595	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:172001595G>A	uc001gie.3	+	4	819	c.643G>A	c.(643-645)Gat>Aat	p.D215N	DNM3_uc001gid.4_Missense_Mutation_p.D215N|DNM3_uc009wwb.2_Missense_Mutation_p.D215N|DNM3_uc001gif.3_Missense_Mutation_p.D215N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	215					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	p.T214T(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGAAGGAACGGATGCCAGGGA	0.373000														81			61		0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78475260	78475260	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:78475260A>G	uc001vkp.1	-	4	1307	c.1154T>C	c.(1153-1155)cTa>cCa	p.L385P	EDNRB_uc001vkq.1_Missense_Mutation_p.L295P|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Missense_Mutation_p.L295P|EDNRB_uc010aez.1_Missense_Mutation_p.L295P	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	295				A -> V (in Ref. 13; BAF83388).	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	ACAGGTCATTAGTGTATAAAA	0.353000														38			28		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155530818	155530818	+	Missense_Mutation	SNP	G	C	C	rs148688900		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:155530818G>C	uc003ioj.3	-	5	771	c.630C>G	c.(628-630)atC>atG	p.I210M	FGG_uc003iog.3_Missense_Mutation_p.I210M	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	210	Fibrinogen C-terminal.				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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGACCCATCGATTTCACAGT	0.383000														59			40		0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25803647	25803647	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:25803647G>A	uc002rgh.3	-	6	902	c.652C>T	c.(652-654)Cct>Tct	p.P218S	DTNB_uc010yko.2_Missense_Mutation_p.P161S|DTNB_uc002rgi.3_Missense_Mutation_p.P218S|DTNB_uc002rgj.3_Missense_Mutation_p.P218S|DTNB_uc002rgk.3_Missense_Mutation_p.P218S|DTNB_uc002rgl.3_Missense_Mutation_p.P218S|DTNB_uc002rgq.3_Missense_Mutation_p.P218S|DTNB_uc002rgn.3_Missense_Mutation_p.P14S|DTNB_uc010ykp.2_Missense_Mutation_p.P14S|DTNB_uc002rgr.1_Missense_Mutation_p.P207S|DTNB_uc010ykq.1_Missense_Mutation_p.P71S	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	218						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGGGGAGGAGGGTCAGCC	0.388000														28			21		0	0	1	0	0
SHISA4	149345	broad.mit.edu	37	1	201858678	201858678	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:201858678G>A	uc001gxa.3	+	1	497	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	60						integral to membrane				kidney(1)|lung(4)	5						TGCTACCATCGGTACTGCTGC	0.617000														111			37		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126086198	126086198	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:126086198C>T	uc003vlr.2	-	8	2970	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E887K|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	887					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCAAGACTCTCACAGAGTTCA	0.458000										HNSCC(24;0.065)				83			48		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049760	67049760	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:67049760G>A	uc009yrn.1	+	11	1242	c.976G>A	c.(976-978)Gac>Aac	p.D326N		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	326	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CATCCTTCTGGACGAGCATGG	0.642000														24			82		0	0	1	0	0
CAPNS2	84290	broad.mit.edu	37	16	55600715	55600715	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:55600715G>A	uc002eid.1	+	0	132	c.47G>A	c.(46-48)gGa>gAa	p.G16E	LPCAT2_uc002eie.4_Intron|LPCAT2_uc002eic.3_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	Homo sapiens calpain, small subunit 2 (CAPNS2), mRNA.	16	Gly-rich.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CGAGGTCTTGGAGAAGCTCTT	0.433000														31			7		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20166597	20166597	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:20166597C>T	uc002rdi.3	-	9	1190	c.1082G>A	c.(1081-1083)tGg>tAg	p.W361*	WDR35_uc002rdj.3_Nonsense_Mutation_p.W361*|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	361										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCGTATCCCAGAAGACAAC	0.378000														27			13		0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953333	32953333	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:32953333G>A	uc002hif.3	+	1	583	c.255G>A	c.(253-255)aaG>aaA	p.K85K		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	85						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)		TCCAGACCAAGGAGCTGCCGG	0.706000														12			16		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67268019	67268019	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:67268019G>A	uc002esl.3	-	12	1699	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	FHOD1_uc010ced.3_Silent_p.I336I|FHOD1_uc010vjh.1_Silent_p.I189I	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	529	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.I529F(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGAGCTCCCAGATGGGCTCAG	0.612000														63			77		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57641622	57641622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:57641622G>A	uc002qny.3	+	3	1935	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	USP29_uc021vci.1_Missense_Mutation_p.E527K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	527					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGAATAACGAGCAAGTTTA	0.408000														108			36		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2105451	2105451	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:2105451C>T	uc001aiq.3	+	13	1562	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	PRKCZ_uc001air.3_Silent_p.F284F|PRKCZ_uc010nyw.2_Silent_p.F363F|PRKCZ_uc001ais.3_Silent_p.F284F|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Silent_p.F315F	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	467	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ACTACCTTTTCCAAGGTGCGT	0.612000											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			29		0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60268557	60268557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:60268557G>A	uc001npr.3	+	2	373	c.316G>A	c.(316-318)Gga>Aga	p.G106R	MS4A12_uc021qkb.1_Intron	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	106						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CATTGGTTTTGGAATTGTTTT	0.373000														44			84		0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77112976	77112976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:77112976G>A	uc004fof.3	-	3	567	c.505C>T	c.(505-507)Cca>Tca	p.P169S	MAGT1_uc004fog.4_Non-coding_Transcript	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	137					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R168L(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ATGAAAGTTGGAGCTGAATTC	0.383000														15			65		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228563450	228563450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:228563450G>A	uc009xez.1	+	97	22755	c.22711G>A	c.(22711-22713)Gat>Aat	p.D7571N	OBSCN_uc001hsr.1_Missense_Mutation_p.D2200N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7571	Fibronectin type-III 4.				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)				GGTGTACGCGGATGGGGTGCT	0.627000														18			36		0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44003840	44003840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:44003840C>T	uc002xny.3	-	3	688	c.607G>A	c.(607-609)Gat>Aat	p.D203N	SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	Homo sapiens TP53 target 5 (TP53TG5), mRNA.	203					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCGGCTACATCCAGCTGCTTC	0.612000														60			38		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29519814	29519814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:29519814G>A	uc002rmy.3	-	8	2709	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	586	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A585T(1)|p.A585A(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCCTTCATAGGCGGCGACATG	0.552000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					39			14		0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80685001	80685001	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:80685001G>A	uc002kfu.3	+	5	934	c.884G>A	c.(883-885)gGg>gAg	p.G295E	FN3KRP_uc010wvr.2_Missense_Mutation_p.G245E	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA.	295							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TTTGGATCGGGGTACAGAGGA	0.527000														77			29		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107511	107511	+	RNA	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrGL000211.1:107511A>T	uc003boa.3	+	4		c.1051A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		AATGCAAATTATTTTGAAATA	0.279000														13			3		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883739	39883739	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:39883739C>T	uc003axv.4	+	1	626	c.387C>T	c.(385-387)ccC>ccT	p.P129P	MGAT3_uc010gxy.3_Silent_p.P129P	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	129					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AGAGGCCGCCCCCGGGACGGC	0.726000														11			5		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24358116	24358116	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:24358116G>A	uc002dmf.3	+	1	1475	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	91					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	p.Q91Q(2)		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)		ACTACGAACAGGACACAGCCG	0.567000														35			30		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27672393	27672393	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:27672393G>A	uc002rku.3	-	37	4248	c.4197C>T	c.(4195-4197)ttC>ttT	p.F1399F	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1399					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GATTCTTGAGGAACTCTTTAT	0.478000														73			27		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66074537	66074538	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:66074537_66074538CA>AT	uc001dci.3	+	11	2094_2095	c.1705_1706CA>AT	c.(1705-1707)caa>ATa	p.Q569I	LEPR_uc001dcg.3_Missense_Mutation_p.Q569I|LEPR_uc001dch.3_Missense_Mutation_p.Q569I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.Q569I|LEPR_uc001dcj.3_Missense_Mutation_p.Q569I|LEPR_uc001dck.3_Missense_Mutation_p.Q569I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	569	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAATAACCTTCAATTCCAGATT	0.347000														44			14		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187974	37187974	+	RNA	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:37187974G>C	uc002hrd.1	+	0		c.1816G>C								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AGCTACGTAAGGAGGTTGTAG	0.493000														30			8		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5238487	5238487	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:5238487C>T	uc002gbm.4	+	3	600	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	RABEP1_uc010clc.1_Missense_Mutation_p.R126C|RABEP1_uc010cld.1_Missense_Mutation_p.R83C|RABEP1_uc010vsw.1_Missense_Mutation_p.R83C|RABEP1_uc002gbl.4_Missense_Mutation_p.R126C|RABEP1_uc002gbj.3_Missense_Mutation_p.R126C|RABEP1_uc002gbk.2_Missense_Mutation_p.R126C	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	126					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity	p.R126C(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAAACAGTTCGTGACTATGA	0.378000														43			23		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117635456	117635457	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:117635456_117635457CC>TT	uc001egy.3	+	17	2929_2930	c.2909_2910CC>TT	c.(2908-2910)tcc>tTT	p.S970F	MIR942_uc021osm.1_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	970					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GAGCCATCTTCCACTGTTTCCC	0.490000														66			22		0	0	1	0	0
RPL13AP3	645683	broad.mit.edu	37	14	56233097	56233097	+	RNA	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:56233097G>A	uc010aos.3	+	0		c.135G>A								Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA.																		AACCCTTTTCGAAGCGCCTAC	0.572000														15			9		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020545	56020545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:56020545G>A	uc010rjd.2	+	0	870	c.870G>A	c.(868-870)atG>atA	p.M290I		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M290I(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TCAGTTATATGAGACCAAGTT	0.403000														61			33		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38502880	38502880	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:38502880C>T	uc010ive.1	-	10	1791	c.1459G>A	c.(1459-1461)Gta>Ata	p.V487I	LIFR_uc003jli.2_Missense_Mutation_p.V487I	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	487	Fibronectin type-III 3.				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)					GAATTTTCTACTCCTTTGATT	0.289000			T	PLAG1	salivary adenoma									8			6		0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1332303	1332303	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:1332303C>T	uc003gda.3	+	7	1023	c.993C>T	c.(991-993)gcC>gcT	p.A331A	MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.A290A|MAEA_uc011bvb.2_Silent_p.A263A|MAEA_uc003gdc.3_Silent_p.A263A|MAEA_uc011bvc.2_Silent_p.A330A|MAEA_uc011bvd.2_Silent_p.A283A|MAEA_uc010ibt.3_Silent_p.A104A	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	331					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGCCCATGGCCCACTGTGCCA	0.612000														48			29		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51196695	51196695	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:51196695G>A	uc011bds.2	+	10	872	c.849G>A	c.(847-849)atG>atA	p.M283I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	283						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAAGATATGAAGAGAGATT	0.353000														29			9		0	0	1	0	0
TRIM28	10155	broad.mit.edu	37	19	59058766	59058766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:59058766G>A	uc002qtg.1	+	3	899	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	TRIM28_uc010eut.1_Missense_Mutation_p.E122K|TRIM28_uc002qth.1_5'Flank	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	204	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCGGGATGGTGAACGTACTGT	0.552000														12			25		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008961	27008961	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:27008961C>T	uc010crt.3	+	13	1752	c.1560C>T	c.(1558-1560)cgC>cgT	p.R520R	SUPT6H_uc002hby.3_Silent_p.R520R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	520					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGCCTCTCGCCGAGACATGT	0.522000														8			12		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631260	67631260	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:67631260G>A	uc002sdz.1	+	4	1585	c.1446G>A	c.(1444-1446)gaG>gaA	p.E482E		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	482						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGAAATTTGAGAACTCTTCCA	0.259000														12			3		0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334623	21334623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:21334623G>A	uc003zoy.3	-	0	807	c.236C>T	c.(235-237)gCc>gTc	p.A79V	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	79	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TGTGAACATGGCTTTGAAATA	0.403000														62			35		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145543883	145543883	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:145543883A>T	uc003lnx.1	-	5	822	c.584T>A	c.(583-585)aTg>aAg	p.M195K	LARS_uc011dbq.1_Missense_Mutation_p.M149K|LARS_uc011dbr.1_Missense_Mutation_p.M141K|LARS_uc011dbs.1_Missense_Mutation_p.M168K	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	195					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTCAAACCCATTCTTTTTAA	0.358000														58			22		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22923920	22923920	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:22923920T>C	uc001bfx.1	+	9	2006	c.1881T>C	c.(1879-1881)acT>acC	p.T627T		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	627						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)		GCAGTTTCACTCGGGAGATCG	0.647000														82			116		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955425	102955425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:102955425C>T	uc002tbu.1	+	2	461	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.R64C	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	64	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.R64C(3)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGAAAGAAATCGTGTGTTTGC	0.408000														119			37		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52417987	52417987	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:52417987C>T	uc011bef.2	+	51	8523	c.8262C>T	c.(8260-8262)gcC>gcT	p.A2754A	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2754	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTCTGTGGCCACCGTGTTCC	0.567000														12			5		0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63541189	63541189	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:63541189C>T	uc001sro.1	-	1	3181	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	403					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTAGGCGAGTCCTTCCACATA	0.383000														96			74		0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35810444	35810444	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:35810444G>A	uc003zye.3	-	4	1307	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	SPAG8_uc003zyg.3_Missense_Mutation_p.P398S	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	398						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTTTGTTGGGGCAGGAGTC	0.597000														38			16		0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108250629	108250629	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:108250629G>A	uc003psc.4	-	1	483	c.214C>T	c.(214-216)Cct>Tct	p.P72S		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	72					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTACTGTAGGAATAATATTT	0.313000														21			20		0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4929251	4929251	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:4929251C>T	uc002mbp.3	+	1	503	c.210C>T	c.(208-210)acC>acT	p.T70T	UHRF1_uc002mbo.3_Silent_p.T57T|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	57	Ubiquitin-like.				DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACGGCCATACCCTCTTCGACT	0.602000														80			43		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891231	4891231	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:4891231C>T	uc002mbm.3	-	2	856	c.856G>A	c.(856-858)Ggt>Agt	p.G286S		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	286					signal transduction			p.D285D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		ATGATCTCACCGTCCTGCGTG	0.617000														135			88		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999068	20999068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:20999068C>T	uc010vbe.2	-	45	6829	c.6829G>A	c.(6829-6831)Gac>Aac	p.D2277N	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2277	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)		CGTGAGAAGTCCCGCAGGTTA	0.478000														52			14		0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286736	11286736	+	Silent	SNP	G	A	A	rs112605675		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:11286736G>A	uc009zhs.1	-	0	108	c.108C>T	c.(106-108)gtC>gtT	p.V36V	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.									p.V36V(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTTGTCTCTTGACCCACTCAA	0.388000														47			44		0	0	1	0	0
AK098438	0	broad.mit.edu	37	1	21750978	21750978	+	RNA	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:21750978G>A	uc001bep.1	-	4		c.680C>T								Homo sapiens cDNA FLJ25572 fis, clone JTH05111.																		CATGGTCTGAGAATAGGAATA	0.502000														19			5		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36079590	36079590	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:36079590G>A	uc010gmt.1	+	2	1441	c.1441G>A	c.(1441-1443)Ggt>Agt	p.G481S	CLIC6_uc002yuf.1_Missense_Mutation_p.G463S	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	481						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TGGTTATGATGGTGAGAGTAT	0.428000														33			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062982	9062982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:9062982C>T	uc002mkp.3	-	2	24668	c.24464G>A	c.(24463-24465)aGg>aAg	p.R8155K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8157	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						GACTTCTGTCCTGGAGACTTC	0.547000														56			51		0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178560683	178560683	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:178560683C>T	uc003fjd.3	+	4	1009	c.666C>T	c.(664-666)taC>taT	p.Y222Y	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.Y222Y|KCNMB2_uc003fjf.3_Silent_p.Y222Y|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Non-coding_Transcript	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	222					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	p.Q221Q(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TTACACAGTACCTCTCCCTAC	0.398000														20			6		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169642870	169642870	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:169642870C>T	uc003fgd.3	+	4	503	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SAMD7_uc003fge.3_Missense_Mutation_p.S79F|SAMD7_uc011bpo.2_5'UTR	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	79										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CCACCTGAATCCATAAAGGCA	0.343000														24			7		0	0	1	0	0
MIR873	100126316	broad.mit.edu	37	9	28888901	28888901	+	RNA	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:28888901C>T	uc022bfe.1	-	0		c.53G>A								Homo sapiens microRNA 873 (MIR873), microRNA.																		GGGAACTCATCAGTCTCCTGT	0.423000														6			6		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420580	105420580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:105420580C>T	uc010axc.1	-	6	1328	c.1208G>A	c.(1207-1209)aGa>aAa	p.R403K	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.R303K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	403						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)			CTCGCAAAGTCTAGGGTCACC	0.632000														53			56		0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803733	160803733	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:160803733G>A	uc003fdv.3	-	4	1229	c.810C>T	c.(808-810)gtC>gtT	p.V270V	B3GALNT1_uc003fdw.3_Silent_p.V270V|B3GALNT1_uc003fdx.3_Silent_p.V270V|B3GALNT1_uc003fdy.3_Silent_p.V270V|B3GALNT1_uc003fdz.3_Silent_p.V270V|B3GALNT1_uc003fea.3_Silent_p.V270V|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Silent_p.V270V	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	270					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AACAGATCCCGACATAAACAT	0.363000														22			10		0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8869061	8869061	+	Silent	SNP	G	A	A	rs143206990	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:8869061G>A	uc003wsk.2	+	2	557	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	99	SAP.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	GAGGAGTAAAGGATGTTCTAA	0.368000														16			6		0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19687173	19687173	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:19687173C>T	uc002gwm.4	-	21	2806	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	ULK2_uc002gwn.3_Missense_Mutation_p.R766H	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	766					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CACGCACACGCGGCCACTCAT	0.627000														51			15		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96536859	96536859	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:96536859T>C	uc001vmt.3	-	26	3284	c.3114A>G	c.(3112-3114)aaA>aaG	p.K1038K	UGGT2_uc001vmu.1_Silent_p.K125K	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1038					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCCAAAAATTTTGCCACTG	0.398000														38			41		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006821	145006821	+	Silent	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:145006821C>G	uc003zaf.1	-	14	2378	c.2208G>C	c.(2206-2208)ctG>ctC	p.L736L	PLEC_uc003zab.1_Silent_p.L599L|PLEC_uc003zac.1_Silent_p.L603L|PLEC_uc003zad.2_Silent_p.L599L|PLEC_uc003zae.1_Silent_p.L567L|PLEC_uc003zag.1_Silent_p.L577L|PLEC_uc003zah.2_Silent_p.L585L|PLEC_uc003zaj.2_Silent_p.L626L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	736	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGCGTACTGCAGGTCCAGCC	0.706000														17			11		0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206241550	206241550	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:206241550G>A	uc001hdt.1	-	3	878	c.239C>T	c.(238-240)tCt>tTt	p.S80F		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	80						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AAGGGAATCAGACATTGGGAT	0.567000														143			65		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186673030	186673030	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:186673030G>A	uc002upl.3	+	16	19264	c.19264G>A	c.(19264-19266)Gaa>Aaa	p.E6422K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TAAGTCTAAGGAAAAGTCTTC	0.353000														8			18		0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15545933	15545933	+	Silent	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:15545933G>T	uc001avw.4	+	3	975	c.456G>T	c.(454-456)ccG>ccT	p.P152P	TMEM51_uc010obk.2_Silent_p.P152P|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Silent_p.P152P|TMEM51_uc001avx.3_Silent_p.P152P	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	152						integral to membrane		p.P152P(2)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCAGAACCCGAGGTTGAGCA	0.582000														85			23		1.50039e-11	1.526e-11	1	1	0
PSG2	5670	broad.mit.edu	37	19	43575906	43575906	+	Missense_Mutation	SNP	G	A	A	rs143041939	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:43575906G>A	uc002ovr.3	-	3	1082	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	304	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.R304H(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.458000														130			128		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123798214	123798214	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:123798214G>A	uc010tap.2	-	22	3173	c.3173C>T	c.(3172-3174)tCt>tTt	p.S1058F	SBNO1_uc010tao.2_Missense_Mutation_p.S1057F|SBNO1_uc010taq.2_Missense_Mutation_p.S9F|SBNO1_uc001ues.1_Missense_Mutation_p.S9F	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1058							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCATAGGAGAATCCAAGTT	0.318000														12			8		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4925875	4925876	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:4925875_4925876CC>TT	uc002gan.2	+	21	2856_2857	c.2499_2500CC>TT	c.(2497-2502)ctccgg>ctTTgg	p.R834W		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	834					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity	p.L833L(2)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGGAGGACCTCCGGGCCCACAT	0.673000														12			9		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42839804	42839804	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:42839804C>T	uc010gor.3	-	12	1496	c.1435G>A	c.(1435-1437)Gga>Aga	p.G479R	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G442R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G442R|TMPRSS2_uc021wjn.1_5'Flank	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	442	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGAGGCCCTCCACTGTCACCC	0.562000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									44			66		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35713965	35713965	+	Silent	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:35713965G>T	uc003zxt.2	-	24	3588	c.3234C>A	c.(3232-3234)ccC>ccA	p.P1078P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1078					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCAGGTAAGGGTTTAAGCT	0.468000														32			16		2.32078e-09	2.35331e-09	1	1	0
SHMT1	6470	broad.mit.edu	37	17	18232117	18232117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:18232117C>T	uc002gta.3	-	11	1589	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	SHMT1_uc002gsz.3_Missense_Mutation_p.E242K|SHMT1_uc002gtb.3_Missense_Mutation_p.E428K|SHMT1_uc010vxt.2_Missense_Mutation_p.E329K	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	467					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCTCAACCTCCTCCCGGAGA	0.622000														11			8		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233231576	233231576	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:233231576G>A	uc001hvl.2	-	21	4106	c.3871C>T	c.(3871-3873)Ctg>Ttg	p.L1291L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1291						integral to membrane		p.V1290V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACATATGTCAGGACGAACTGT	0.448000														24			10		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39670293	39670293	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:39670293G>A	uc002hwy.3	-	7	1544	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	KRT15_uc002hwz.3_Silent_p.S353S|KRT15_uc002hxa.3_Silent_p.S286S|KRT15_uc002hxb.1_3'UTR	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	451	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CTCTCTTGTGGGAAGAAACCA	0.522000														59			65		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023636	28023636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:28023636G>A	uc001ity.4	-	4	812	c.587C>T	c.(586-588)tCg>tTg	p.S196L	MKX_uc001itx.4_Missense_Mutation_p.S196L	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	196					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TTTGATGACCGAATTCTCACT	0.488000														31			48		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325292	31325292	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:31325292C>T	uc010dmg.1	+	11	5535	c.5480C>T	c.(5479-5481)cCc>cTc	p.P1827L	ASXL3_uc002kxq.2_Missense_Mutation_p.P1534L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.P1827H(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAAACCACCCCAAAAAGAGA	0.478000														92			50		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501463	31501463	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:31501463G>A	uc002ecf.4	+	12	1723	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	568					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAGCAAGGAGGAACGGGAGG	0.602000														48			14		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34922671	34922671	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:34922671C>T	uc002yse.1	+	2	1183	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	SON_uc002ysb.1_Silent_p.A378A|SON_uc002ysc.3_Silent_p.A378A|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.A24A|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	378					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CGTCGGTGGCCTCAGCGATGG	0.627000														67			86		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117273830	117273830	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:117273830G>A	uc009zwn.3	+	9	1331	c.1098_splice	c.e9+1	p.Q366_splice	RNFT2_uc001twb.4_Splice_Site_p.Q366_splice|RNFT2_uc001twa.4_Splice_Site_p.Q276_splice|RNFT2_uc001twc.4_Splice_Site_p.Q114_splice	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	366						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GTACCTCTCAGGTGAGTTGGC	0.562000														42			32		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908759	52908759	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:52908759G>A	uc001san.3	-	8	1903	c.1740C>T	c.(1738-1740)acC>acT	p.T580T		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	580	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGAGGAGGTGGTGGAGACAA	0.607000														68			57		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789886	140789886	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140789886C>T	uc003lkj.2	+	0	2117	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.A706V|PCDHGC5_uc011day.2_5'Flank|PCDHGC5_uc003lkl.2_5'Flank	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	708					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)			TTCCTCCTCGCCGTGATTCTG	0.582000														83			82		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127444	45127444	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:45127444C>T	uc010wkj.1	+	1	996	c.642C>T	c.(640-642)ctC>ctT	p.L214L	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1350						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CGAAGAGCCTCATAAATTCCC	0.443000														385			10		0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638351	46638351	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:46638351G>A	uc002eec.4	-	5	752	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	238								p.R238P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GATGGAACTCGGTCTTCAAGA	0.383000														88			24		0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64263739	64263739	+	Silent	SNP	G	A	A	rs144523094		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:64263739G>A	uc002amr.3	-	3	367	c.336C>T	c.(334-336)ttC>ttT	p.F112F	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.F102F	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	112	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CCAGGAAATCGAAGAGCTCTC	0.557000														27			31		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4797555	4797555	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:4797555C>T	uc010vsl.2	+	22	3001	c.2757C>T	c.(2755-2757)ccC>ccT	p.P919P	MINK1_uc010vsk.2_Silent_p.P890P|MINK1_uc010vsm.2_Silent_p.P899P|MINK1_uc010vsn.2_Silent_p.P882P|MINK1_uc010vso.2_Silent_p.P827P|MINK1_uc010vsp.2_Silent_p.P380P	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	919	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCCACTCACCCACCGAGAACA	0.622000														57			16		0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1339043	1339043	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:1339043G>A	uc003jch.3	-	3	577	c.531C>T	c.(529-531)aaC>aaT	p.N177N	CLPTM1L_uc003jcg.3_Silent_p.N44N	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	177					apoptosis	integral to membrane		p.N177N(2)|p.L176L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCGCCATCACGTTCAGCGCCA	0.612000														50			42		0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127684013	127684013	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:127684013C>T	uc004bpc.3	-	8	1062	c.720G>A	c.(718-720)ctG>ctA	p.L240L	GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Silent_p.L215L	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	240						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCTGCTCTTCCAGCGTTGAGT	0.488000														115			61		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307269	162307269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:162307269C>T	uc003iqh.3	-	15	2610	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	FSTL5_uc003iqi.3_Missense_Mutation_p.G724E|FSTL5_uc010iqv.3_Missense_Mutation_p.G715E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	725						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGTATTTCTCCTCTGATGGT	0.423000														49			30		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170959004	170959004	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:170959004G>A	uc010plz.2	+	10	1042	c.888G>A	c.(886-888)aaG>aaA	p.K296K	C1orf129_uc001ghg.3_Silent_p.K296K|C1orf129_uc009wvy.3_Silent_p.K103K	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	296							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGTGTCTAAGATCGTGGATG	0.398000														128			45		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084355	53084355	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:53084355T>C	uc003xqz.2	-	4	1222	c.1066A>G	c.(1066-1068)Aaa>Gaa	p.K356E	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.K321E|ST18_uc011lds.1_Missense_Mutation_p.K261E|ST18_uc003xra.2_Missense_Mutation_p.K356E|ST18_uc003xrb.2_Missense_Mutation_p.K356E	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	356						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K356E(2)		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)				GTCTTACGTTTATTGTTAAAG	0.363000														83			56		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18062201	18062201	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:18062201T>C	uc001mnp.2	-	0	135	c.109A>G	c.(109-111)Atc>Gtc	p.I37V	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	37	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACCTGAAAGATTTTCAGGGCT	0.333000														6			6		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32053957	32053957	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:32053957G>A	uc003jhl.3	+	9	2256	c.1868G>A	c.(1867-1869)gGa>gAa	p.G623E	PDZD2_uc003jhm.3_Missense_Mutation_p.G623E|PDZD2_uc011cnx.1_Missense_Mutation_p.G449E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	623	PDZ 3.				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						TTCCCAAATGGATCAGCTGCA	0.483000														85			18		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497379	28497379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:28497379C>T	uc003nll.2	+	1	241	c.239C>T	c.(238-240)cCt>cTt	p.P80L	GPX5_uc003nlm.2_Missense_Mutation_p.P80L|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	80					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GCGCAATATCCTGGTAAGAGA	0.358000														37			52		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518535	93518535	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:93518535G>A	uc010tif.2	+	8	1928	c.1562_splice	c.e8-1	p.W521_splice		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	521						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCCTCTACAGGGATGCCAGAT	0.428000														55			25		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1813681	1813681	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:1813681G>A	uc010uvl.2	+	16	2042	c.1922G>A	c.(1921-1923)cGa>cAa	p.R641Q	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R640Q|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R630Q|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R634Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	640					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCGCCCGTCGAGAGCAGAAG	0.662000														11			8		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224825	248224825	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:248224825C>T	uc001idx.1	+	0	842	c.842C>T	c.(841-843)aCt>aTt	p.T281I	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			ACCACCCTCACTCCAATGCTC	0.488000														106			78		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23833265	23833265	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:23833265C>T	uc003gqs.3	-	2	464	c.344G>A	c.(343-345)gGa>gAa	p.G115E	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	115					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGTCACGTCTCCATCTGTCAG	0.542000														188			194		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471455	92471456	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:92471455_92471456GG>AA	uc001xzy.3	-	10	3238_3239	c.2864_2865CC>TT	c.(2863-2865)acc>aTT	p.T955I	TRIP11_uc010auf.2_Missense_Mutation_p.T691I	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	955					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAAGAGCTGGGTGTGTGTGGC	0.381000			T	PDGFRB	AML									44			17		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18322673	18322674	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:18322673_18322674GG>AA	uc010xqc.2	-	13	2166_2167	c.1686_1687CC>TT	c.(1684-1689)gaccgc>gaTTgc	p.R563C	PDE4C_uc002nik.4_Missense_Mutation_p.R563C|PDE4C_uc002nil.4_Missense_Mutation_p.R563C|PDE4C_uc002nig.4_Missense_Mutation_p.R278C|PDE4C_uc002nih.4_Missense_Mutation_p.R333C|PDE4C_uc010ebk.3_Missense_Mutation_p.R457C|PDE4C_uc002nii.4_Missense_Mutation_p.R531C|PDE4C_uc002nif.4_Missense_Mutation_p.R332C|PDE4C_uc010ebl.3_Missense_Mutation_p.R277C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	563					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCCATGATGCGGTCCGTCCACT	0.609000														74			43		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324356	158324356	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:158324356G>A	uc001fse.3	+	1	541	c.248G>A	c.(247-249)gGa>gAa	p.G83E	CD1E_uc010pid.2_Missense_Mutation_p.G81E|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.G83E|CD1E_uc001fsf.3_Missense_Mutation_p.G83E|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.G83E|CD1E_uc001fsk.3_Missense_Mutation_p.G83E|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.G83E|CD1E_uc001frz.3_Missense_Mutation_p.G83E|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	83					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGTCCCATGGAAACTTCAGC	0.507000														44			22		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21856777	21856777	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:21856777C>T	uc003xaa.4	+	22	2706	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	868					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGCAGACCTTCATCAAGCTGC	0.493000														195			133		0	0	1	0	0
METTL7A	25840	broad.mit.edu	37	12	51319047	51319047	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:51319047G>A	uc001rxb.3	+	0	514	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	METTL7A_uc010smv.1_Missense_Mutation_p.E76K	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	Homo sapiens methyltransferase like 7A (METTL7A), mRNA.	76						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CTCCCTGCTGGAAGTGGGCTG	0.542000														48			22		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350097	24350097	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:24350097C>T	uc003xeb.3	+	14	1755	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S	ADAM7_uc003xec.3_Missense_Mutation_p.P320S	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	548	Cys-rich.				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)		CAGATTTCTTCCCTGTGAGGA	0.388000														48			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404253	179404253	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179404253C>T	uc021vsy.1	-	300	91060	c.90835G>A	c.(90835-90837)Gat>Aat	p.D30279N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D23974N|TTN_uc021vta.1_Missense_Mutation_p.D23907N|TTN_uc021vtb.1_Missense_Mutation_p.D23782N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31206	Fibronectin type-III 121.						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)			ACTCTGGAATCAATGGTATAC	0.488000														62			56		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25815749	25815749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:25815749G>A	uc001bkk.3	+	8	1784	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	TMEM57_uc009vru.3_Missense_Mutation_p.E301K|TMEM57_uc009vrv.3_Missense_Mutation_p.E170K	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	528						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGGTGAAAGAAGACCAAAT	0.428000														36			12		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47758197	47758197	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:47758197G>A	uc009ylv.3	-	8	1705	c.1552C>T	c.(1552-1554)Cca>Tca	p.P518S	FNBP4_uc001ngj.3_Missense_Mutation_p.P425S|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	518										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTACTTTTGGTGTTGTCTGT	0.299000														11			5		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949535	41949535	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:41949535G>A	uc010skn.2	+	6	1346	c.1338G>A	c.(1336-1338)cgG>cgA	p.R446R	PDZRN4_uc001rmq.4_Silent_p.R188R|PDZRN4_uc009zjz.3_Silent_p.R186R|PDZRN4_uc001rmr.3_Silent_p.R73R	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	446	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAGACGGCCGGATTCGAGAAG	0.393000														66			46		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6820742	6820742	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:6820742C>T	uc002mfu.1	+	1	331	c.234C>T	c.(232-234)ttC>ttT	p.F78F	VAV1_uc010xjh.1_Silent_p.F78F|VAV1_uc010dva.1_Silent_p.F78F|VAV1_uc002mfv.1_Silent_p.F23F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	78	CH.|Leu-rich.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTAGAACCTTCCTGTCCACCT	0.552000														96			57		0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109200171	109200171	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:109200171C>T	uc001dvt.4	-	2	290	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	HENMT1_uc001dvu.4_Missense_Mutation_p.E18K|HENMT1_uc009wer.3_Missense_Mutation_p.E18K	NM_001102592	NP_653185	Q5T8I9	HENMT_HUMAN	Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA.	18					gene silencing by RNA|piRNA metabolic process	P granule	O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CTGGGAACTTCTTCAAAATTA	0.393000														33			9		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307459	140307459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140307459G>A	uc003lih.2	+	0	1158	c.982G>A	c.(982-984)Gtg>Atg	p.V328M	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.V328M	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	353	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)			TAAACTGCTGGTGGAGGTGAC	0.552000														137			39		0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182591616	182591616	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:182591616C>T	uc003flb.3	+	18	2322	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	ATP11B_uc003flc.3_Nonsense_Mutation_p.R273*|ATP11B_uc011bqm.1_5'UTR|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	689					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATAAAGTTCGAGAAACTAT	0.323000														21			19		0	0	1	0	0
C19orf10	56005	broad.mit.edu	37	19	4670198	4670198	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:4670198G>A	uc002may.3	-	0	218	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_019107	NP_061980	Q969H8	CS010_HUMAN	Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA.	50						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		ATGGGAGAAGGAATGCACGAC	0.741000														22			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329734	126329734	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:126329734G>A	uc003ifj.4	+	3	5705	c.5705G>A	c.(5704-5706)cGa>cAa	p.R1902Q	FAT4_uc011cgp.2_Missense_Mutation_p.R200Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1902	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTTGACTCGATTATTAGAT	0.348000														78			16		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901067	123901067	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:123901067G>A	uc001pzp.1	+	0	738	c.738G>A	c.(736-738)gtG>gtA	p.V246V		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I245I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACTGTATCGTGGTCCTTTGCT	0.547000														16			38		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128380	27128380	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:27128380G>A	uc001zbd.2	+	5	808	c.276_splice	c.e5+1	p.M92_splice	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Splice_Site_p.M92_splice	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	92					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACACGGAAATGGTAGGTCCCG	0.647000														24			33		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10400668	10400668	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:10400668C>T	uc002gmo.3	-	31	4561	c.4467G>A	c.(4465-4467)aaG>aaA	p.K1489K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1489						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						CATAAGCATTCTTAATCTTAA	0.363000														21			21		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124732177	124732177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:124732177C>T	uc011bke.2	-	6	2614	c.2546G>A	c.(2545-2547)aGg>aAg	p.R849K	HEG1_uc003ehs.4_Missense_Mutation_p.R749K	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	749						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CTCCCTTGCCCTGGGCAGGAC	0.473000														65			36		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102959622	102959622	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:102959622A>T	uc002tbu.1	+	6	1080	c.809A>T	c.(808-810)gAa>gTa	p.E270V	IL1RL1_uc010ywa.2_Missense_Mutation_p.E153V|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.E270V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	270	Ig-like C2-type 3.				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						CAACAAGAGGAAGGGCAAAAT	0.418000														63			26		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169305954	169305954	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:169305954G>A	uc021xuh.1	-	28	4035	c.3925C>T	c.(3925-3927)Cgt>Tgt	p.R1309C	DDX60L_uc003irq.4_Missense_Mutation_p.R1309C	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1309	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTCCAGCACGACCAGACATC	0.408000														15			6		0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79982582	79982583	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:79982582_79982583GG>AA	uc002kde.3	+	2	536_537	c.296_297GG>AA	c.(295-297)cgg>cAA	p.R99Q	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	99						centrosome		p.R99W(1)		lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	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)			AACAACCTTCGGGCTGCAGGGG	0.619000														60			12		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2940994	2940994	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:2940994C>A	uc003ggj.1	-	16	2467	c.2395G>T	c.(2395-2397)Gaa>Taa	p.E799*	NOP14-AS1_uc003ggd.1_Intron|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc021xkt.1_5'Flank|NOP14_uc003ggl.3_Nonsense_Mutation_p.E799*	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	799					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCTTTAAATTCACGCTTGTGT	0.493000														202			90		1.16018e-38	1.2017e-38	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26422536	26422536	+	Missense_Mutation	SNP	G	C	C	rs114927091	by1000genomes	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:26422536G>C	uc003abz.1	+	42	6846	c.6596G>C	c.(6595-6597)cGg>cCg	p.R2199P	MYO18B_uc003aca.1_Missense_Mutation_p.R2080P|MYO18B_uc010guy.1_Missense_Mutation_p.R2081P|MYO18B_uc010guz.1_Missense_Mutation_p.R2079P|MYO18B_uc011aka.1_Missense_Mutation_p.R1353P|MYO18B_uc011akb.1_Missense_Mutation_p.R1712P|MYO18B_uc010gva.1_Missense_Mutation_p.R182P|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2199						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTTGTCCGCCGGCAAAAGTAC	0.567000														65			22		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175258	55175258	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:55175258C>T	uc002qgp.3	+	2	479	c.117C>T	c.(115-117)atC>atT	p.I39I	LILRB4_uc002qgo.1_Silent_p.I80I|LILRB4_uc002qgq.3_Silent_p.I39I|LILRB4_uc010ers.1_Intron|LILRB4_uc010ert.3_Silent_p.I80I|LILRB4_uc010eru.3_Silent_p.I68I	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	39	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GCTCTGTGATCAGCTGGGGGA	0.602000														75			36		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775142	47775142	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:47775142C>T	uc022bvq.1	+	4	1346	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	ZNF81_uc010nhy.2_Missense_Mutation_p.S366L	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TGTGGGAAATCATTTTTCCAG	0.388000														5			41		0	0	1	0	0
C12orf59	120939	broad.mit.edu	37	12	10339077	10339077	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:10339077C>T	uc001qxr.3	+	3	813	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	C12orf59_uc001qxq.3_Missense_Mutation_p.R46C			Q4KMG9	CL059_HUMAN	Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA.	66						integral to membrane				large_intestine(4)|lung(4)|ovary(1)	9						CCTGTGCTTCCGCTGCTGCTG	0.607000														53			28		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976577	107976577	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:107976577G>A	uc004eoc.2	-	0	3031	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	1000						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGGGGAAGGGGAGGAAGT	0.488000														12			86		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71009877	71009877	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:71009877C>T	uc003pfg.4	-	4	326	c.167_splice	c.e4-1	p.G56_splice		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	56	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCAGATCAAACCCTATAGAAT	0.358000														17			8		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325456	9325456	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:9325456C>T	uc002mla.2	-	0	92	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTTCAGGATCATCTGAGAGT	0.507000														51			35		0	0	1	0	0
NPIP	9284	broad.mit.edu	37	16	15026785	15026785	+	RNA	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:15026785G>A	uc002dcx.4	+	7		c.1347G>A						Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											CGGTGGAGACGGAGGCCAACG	0.657000														54			4		0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46672316	46672316	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:46672316C>T	uc010jzf.3	-	11	1576	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E	PLA2G7_uc021zae.1_Missense_Mutation_p.G436E	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	436					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTTCTCTATTCCTGAAGAGTT	0.358000														24			30		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499748	66499748	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:66499748C>T	uc004aee.1	+	0	558	c.558C>T	c.(556-558)ttC>ttT	p.F186F	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CGTCCATTTTCGGGGTGGTGG	0.607000														91			4		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051849	96051849	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:96051849C>T	uc004ati.1	+	19	4924	c.4924C>T	c.(4924-4926)Ccc>Tcc	p.P1642S	WNK2_uc011lud.1_Missense_Mutation_p.P1605S|WNK2_uc004atj.3_Missense_Mutation_p.P1605S|WNK2_uc004atk.3_Missense_Mutation_p.P1242S|WNK2_uc004atl.1_Missense_Mutation_p.P200S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1642					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						CCTGGCCCTGCCCCCAGTGCC	0.697000														7			3		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32480779	32480779	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:32480779G>A	uc001rku.3	+	4	1471	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	BICD1_uc001rkv.3_Missense_Mutation_p.E464K|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	464					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GATGTATGATGAGCAGGTGAC	0.418000														50			27		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77730270	77730270	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:77730270G>A	uc021rks.1	-	45	7105	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	MYCBP2_uc010aev.3_Missense_Mutation_p.R1646C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R2242C(2)|p.R2280C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAACCACAACGAATATCATCC	0.373000														31			15		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901378	24901378	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:24901378G>A	uc003sxf.3	-	9	1286	c.881C>T	c.(880-882)cCt>cTt	p.P294L	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P294L|OSBPL3_uc003sxh.3_Missense_Mutation_p.P263L|OSBPL3_uc003sxi.3_Missense_Mutation_p.P263L|OSBPL3_uc003sxj.1_Missense_Mutation_p.P59L|OSBPL3_uc003sxk.1_Missense_Mutation_p.P28L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	294					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCCAGAAAAAGGTTTCGGGAC	0.363000														48			34		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321804	79321804	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:79321804C>T	uc010mpk.3	-	7	5510	c.5386G>A	c.(5386-5388)Gga>Aga	p.G1796R	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.G1618R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1796					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCAACATCTCCTGTTGTCCCT	0.468000														12			7		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629324	47629324	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:47629324C>T	uc001rpq.3	+	1	1003	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	FAM113B_uc001rpn.3_Silent_p.L160L|FAM113B_uc021qxi.1_Silent_p.L160L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	160							hydrolase activity	p.L159L(1)		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)					GTCTTGCCTCCTGGTGTGGAA	0.607000														44			34		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34666938	34666938	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:34666938G>A	uc010qej.2	-	9	1826	c.1496C>T	c.(1495-1497)gCc>gTc	p.A499V	PARD3_uc010qep.2_Missense_Mutation_p.A455V|PARD3_uc010qeq.2_Missense_Mutation_p.A455V|PARD3_uc010qek.2_Missense_Mutation_p.A499V|PARD3_uc010qel.2_Missense_Mutation_p.A499V|PARD3_uc010qem.2_Missense_Mutation_p.A499V|PARD3_uc010qen.2_Missense_Mutation_p.A499V|PARD3_uc010qeo.2_Missense_Mutation_p.A499V|PARD3_uc001ixo.2_Missense_Mutation_p.A229V|PARD3_uc001ixr.2_Missense_Mutation_p.A499V|PARD3_uc001ixq.2_Missense_Mutation_p.A499V|PARD3_uc001ixp.2_Missense_Mutation_p.A499V|PARD3_uc001ixt.1_Missense_Mutation_p.A320V|PARD3_uc001ixu.2_Missense_Mutation_p.A455V|PARD3_uc001ixs.1_Missense_Mutation_p.A152V	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	499	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ATCCTGAATGGCCGCCCCCCG	0.488000														26			69		0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50365694	50365694	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:50365694G>A	uc002pqj.3	-	10	1073	c.963C>T	c.(961-963)ttC>ttT	p.F321F	PNKP_uc002pqg.3_Silent_p.F102F|PNKP_uc002pqi.3_Silent_p.F282F|PNKP_uc021uxx.1_Silent_p.F321F	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	321					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CAGGCGTGGCGAAGGGCAGGC	0.682000								Other BER factors						9			4		0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132237880	132237881	+	Missense_Mutation	DNP	GG	AA	AA	rs149684834		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:132237880_132237881GG>AA	uc001uja.1	+	7	1434_1435	c.1294_1295GG>AA	c.(1294-1296)ggg>AAg	p.G432K	SFSWAP_uc010tbn.1_Missense_Mutation_p.G432K|SFSWAP_uc001ujb.1_Missense_Mutation_p.G225K|SFSWAP_uc001uiz.1_Missense_Mutation_p.G306K	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	432					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						GACTAGCAGCGGGGCCACCTCC	0.644000														40			35		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754526	140754526	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140754526C>T	uc003ljy.2	+	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F	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_uc011dau.2_Silent_p.F292F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	293	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)			CACAAATTTTCTGTTTGAATG	0.448000														31			19		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008319	41008319	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:41008319G>A	uc002ony.3	+	9	1194	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	SPTBN4_uc002onx.3_Missense_Mutation_p.E370K|SPTBN4_uc002onz.3_Missense_Mutation_p.E370K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	370					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)			GGGGAACCTAGAGGTGCTGCT	0.612000														31			46		0	0	1	0	0
IL22	50616	broad.mit.edu	37	12	68647128	68647128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:68647128G>A	uc001sty.1	-	0	154	c.101C>T	c.(100-102)gCg>gTg	p.A34V	IL22_uc010stb.1_Missense_Mutation_p.A34V	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	34					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GCTGATGGGCGCAGCTGCTCC	0.567000														71			24		0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33344120	33344120	+	Missense_Mutation	SNP	C	T	T	rs2860036		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:33344120C>T	uc003zsr.3	+	13	2434	c.2281C>T	c.(2281-2283)Ccc>Tcc	p.P761S	NFX1_uc011lnw.2_Missense_Mutation_p.P760S|NFX1_uc003zso.3_Missense_Mutation_p.P760S|NFX1_uc003zsp.2_Missense_Mutation_p.P760S|NFX1_uc010mjr.2_Missense_Mutation_p.P761S|NFX1_uc003zsq.3_Missense_Mutation_p.P760S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	760					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CCCTCCAGTTCCCTGTGGTAC	0.488000														42			25		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49604509	49604509	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:49604509G>A	uc003ozk.4	-	0	79	c.17C>T	c.(16-18)cCt>cTt	p.P6L	RHAG_uc010jzl.3_Missense_Mutation_p.P6L|RHAG_uc010jzm.3_Missense_Mutation_p.P6L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	6					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.F5F(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGCCATGAGAGGGAATGTGAA	0.448000														46			83		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110416859	110416859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:110416859G>A	uc003yne.3	+	14	1554	c.1450G>A	c.(1450-1452)Gtt>Att	p.V484I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	484					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTATCGAAATGTTTATACTGA	0.373000										HNSCC(38;0.096)				13			7		0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789219	67789220	+	Nonsense_Mutation	DNP	CC	GT	GT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:67789219_67789220CC>GT	uc010rpy.2	+	7	941_942	c.825_826CC>GT	c.(823-828)ccccag>ccGTag	p.Q276*	ALDH3B1_uc001omz.3_Nonsense_Mutation_p.Q276*|ALDH3B1_uc001ona.3_Nonsense_Mutation_p.Q240*|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	277					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GCGACGACCCCCAGAGCTCCCC	0.649000											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			7		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22190042	22190042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:22190042C>T	uc003svg.3	-	17	1721	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	RAPGEF5_uc011jyl.1_Missense_Mutation_p.D151N	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	320	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCCGCCAGGTCTTTCCGGTAG	0.443000														63			53		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21911017	21911017	+	RNA	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:21911017G>A	uc002gza.2	+	1		c.1745G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ccaggatgacgaaaccacagg	0.667000														3			7		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718559	42718559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:42718559G>A	uc021xxv.1	+	9	1108	c.971G>A	c.(970-972)gGa>gAa	p.G324E	GHR_uc003jmt.3_Missense_Mutation_p.G317E|GHR_uc003jmu.3_Missense_Mutation_p.G317E|GHR_uc003jmv.2_Missense_Mutation_p.G317E|GHR_uc021xxw.1_Missense_Mutation_p.G317E|GHR_uc021xxx.1_Missense_Mutation_p.G317E|GHR_uc021xxy.1_Missense_Mutation_p.G317E|GHR_uc021xxz.1_Missense_Mutation_p.G317E|GHR_uc021xya.1_Missense_Mutation_p.G317E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_Missense_Mutation_p.E294K|GHR_uc011cpq.2_Missense_Mutation_p.G130E|GHR_uc021xyd.1_Missense_Mutation_p.G295E	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	317					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTCTAGGAAGGAAAATTAGAG	0.299000														90			76		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767681	148767681	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:148767681G>A	uc003wfh.2	-	3	2320	c.2183C>T	c.(2182-2184)cCc>cTc	p.P728L	ZNF786_uc011kuk.1_Missense_Mutation_p.P691L|ZNF786_uc003wfi.2_Missense_Mutation_p.P642L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGGCCTCTCGGGCCTGTGGAT	0.567000														134			97		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170030	118170030	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:118170030C>T	uc003yoh.3	+	3	749	c.519C>T	c.(517-519)atC>atT	p.I173I	SLC30A8_uc010mcz.3_Silent_p.I124I|SLC30A8_uc003yog.3_Silent_p.I124I|SLC30A8_uc011lia.2_Silent_p.I124I|SLC30A8_uc022bab.1_Silent_p.I124I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	173					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATTACCAGATCCAGGCGACTG	0.567000														91			63		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302824	15302824	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:15302824C>T	uc002nan.3	-	3	702	c.626G>A	c.(625-627)gGg>gAg	p.G209E	NOTCH3_uc002nao.1_Missense_Mutation_p.G209E	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	209	EGF-like 5.				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)			GCAGGTGCCCCCGTTACGGCA	0.632000														68			9		0	0	1	0	0
DBF4	10926	broad.mit.edu	37	7	87537203	87537203	+	Nonsense_Mutation	SNP	C	T	T	rs144858770		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:87537203C>T	uc003ujf.1	+	11	2254	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	DBF4_uc003ujh.1_Nonsense_Mutation_p.R324*|DBF4_uc003ujg.1_Nonsense_Mutation_p.R360*|DBF4_uc011khf.1_Nonsense_Mutation_p.R351*	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	584				R -> Q (in Ref. 6; EAL24170).	DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AATATTAGGACGAAATAGAAA	0.328000														50			48		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58094970	58094970	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:58094970C>T	uc003djj.2	+	13	2285	c.2120C>T	c.(2119-2121)tCa>tTa	p.S707L	FLNB_uc010hne.2_Missense_Mutation_p.S707L|FLNB_uc003djk.2_Missense_Mutation_p.S707L|FLNB_uc010hnf.2_Missense_Mutation_p.S707L|FLNB_uc003djl.2_Missense_Mutation_p.S538L|FLNB_uc003djm.2_Missense_Mutation_p.S538L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	707					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATGCATGCTCATACACCCCG	0.572000														19			9		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953121	140953121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:140953121C>T	uc003llb.4	-	15	2437	c.2296G>A	c.(2296-2298)Gga>Aga	p.G766R	DIAPH1_uc003llc.4_Missense_Mutation_p.G757R|DIAPH1_uc021yep.1_Missense_Mutation_p.G766R|DIAPH1_uc021yeq.1_Missense_Mutation_p.G757R|DIAPH1_uc010jgc.1_Missense_Mutation_p.G205R	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	766					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGTTAATCCAAATGGCAGA	0.527000														45			16		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74902181	74902181	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:74902181G>A	uc001dge.2	+	20	2219	c.2152G>A	c.(2152-2154)Gat>Aat	p.D718N	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.D718N|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.D617N	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	617	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ACAGTCTCTGGATGAAGACAA	0.338000														16			18		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9348941	9348941	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:9348941G>A	uc001qvl.3	-	9	1106	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	PZP_uc009zgl.3_Silent_p.I228I	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CAAAAAAGGGGATTCCTTGTC	0.413000														28			15		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35076968	35076968	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:35076968C>T	uc003zwb.1	-	6	1269	c.777_splice	c.e6+1	p.M259_splice	FANCG_uc010mkj.1_Splice_Site_p.M1_splice|FANCG_uc011lot.1_Splice_Site_p.M259_splice	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	259					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGTCTTTACCATCTTACGGT	0.527000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						42			16		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176422	49176422	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:49176422C>T	uc001rsh.4	-	0	1456	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	ADCY6_uc001rsi.4_Missense_Mutation_p.G266S|ADCY6_uc001rsj.4_Missense_Mutation_p.G266S	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	266					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGGAGAGGCCCAGGCCGCTG	0.632000														12			7		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1658265	1658265	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:1658265C>T	uc002qxa.3	-	14	1917	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	PXDN_uc002qxb.1_Missense_Mutation_p.R618Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	618					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCTCCATTTCGACTGACGTC	0.418000														14			23		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10775953	10775953	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:10775953C>T	uc002czz.1	-	3	832	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	254					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTTTTGTCTTCGAGGTCCCTC	0.542000														106			35		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18692017	18692018	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:18692017_18692018GC>TT	uc001bau.2	+	5	1224_1225	c.841_842GC>TT	c.(841-843)gcc>TTc	p.A281F	IGSF21_uc001bav.2_Missense_Mutation_p.A102F	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	281						extracellular region		p.S280C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GGTCCACAGCGCCGAGCCCACC	0.639000														150			55		0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8866661	8866661	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:8866661C>T	uc002czc.4	+	11	1007	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ABAT_uc002czd.4_Missense_Mutation_p.R281W|ABAT_uc010buh.3_Missense_Mutation_p.R223W|ABAT_uc010bui.3_Missense_Mutation_p.R281W	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	281					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGTGAAATATCGGAAAAAGAA	0.547000														42			16		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284294	223284294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:223284294C>T	uc021pjl.1	-	0	2080	c.2080G>A	c.(2080-2082)Gat>Aat	p.D694N	TLR5_uc001hnv.2_Missense_Mutation_p.D694N|TLR5_uc001hnw.2_Missense_Mutation_p.D694N	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	694	TIR.		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)		AAATAGGCATCATATTTGTAC	0.453000														61			53		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700508	7700508	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:7700508G>A	uc001aoi.3	+	6	766	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.E186K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCCATCGAGGACTGCGGCAA	0.612000			T	WWTR1	epitheliod hemangioendothelioma									66			60		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585325	179585325	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179585325G>A	uc021vsy.1	-	76	19657	c.19432C>T	c.(19432-19434)Caa>Taa	p.Q6478*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q3139*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7405	Ig-like 46.						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)			ATTTCACATTGGAGAATCACA	0.388000														9			17		0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67759316	67759316	+	Missense_Mutation	SNP	C	T	T	rs4014596		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:67759316C>T	uc001omw.1	-	11	1572	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	499					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741000														6			3		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389561	20389561	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:20389561C>G	uc010tkw.2	+	0	796	c.796C>G	c.(796-798)Cct>Gct	p.P266A		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACCATCTCTCCTTTGGATAA	0.403000														218			6		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774038	14774038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:14774038C>T	uc001rcd.3	-	22	2851	c.2714G>A	c.(2713-2715)gGg>gAg	p.G905E		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	905	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCAAAGGTCCCCATGAAGCT	0.483000														38			40		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196857313	196857313	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:196857313G>T	uc001gtp.3	+	0	170	c.33G>T	c.(31-33)ttG>ttT	p.L11F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.L11F|CFH_uc001gto.3_Missense_Mutation_p.L11F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	0					complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCTGACCTTGTGGGTTTCCT	0.353000														53			34		5.71845e-15	5.8219e-15	1	1	0
CSF2RA	1438	broad.mit.edu	37	X	1419394	1419394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:1419394C>T	uc010nct.2	+	10	1143	c.821C>T	c.(820-822)tCt>tTt	p.S274F	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.S274F|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.S274F|CSF2RA_uc004cpo.2_Missense_Mutation_p.S274F|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.S141F|CSF2RA_uc004cpp.2_Missense_Mutation_p.S274F|CSF2RA_uc010ncv.2_Missense_Mutation_p.S274F|CSF2RA_uc004cpr.2_Missense_Mutation_p.S274F	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	274						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATTAATGTTTCTGGTGATTTG	0.398000														72			16		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323357	31323357	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:31323357C>G	uc003jhe.2	+	11	2675	c.2315C>G	c.(2314-2316)cCt>cGt	p.P772R		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	772					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACTGGGGACCTCGATTCAAA	0.473000														83			23		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90482431	90482431	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:90482431G>A	uc003pnn.1	-	13	2060	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	MDN1_uc003pno.1_Silent_p.F66F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	648					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGCGAAAGTGAACTTCTCCC	0.498000														69			27		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79083116	79083116	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:79083116G>A	uc002bej.4	-	5	1135	c.924C>T	c.(922-924)caC>caT	p.H308H	ADAMTS7_uc010und.1_Silent_p.H308H|ADAMTS7_uc002bek.1_Silent_p.H308H	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	308	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGTCTGCATGGTGCGTGATCT	0.557000														75			28		0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462262	224462262	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:224462262G>A	uc021vxk.1	-	0	1739	c.1739C>T	c.(1738-1740)cCa>cTa	p.P580L	SCG2_uc002vnm.3_Missense_Mutation_p.P580L	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	580					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGCCTATTTGGGGTATCATC	0.483000														39			30		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161015101	161015101	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:161015101C>T	uc003qtl.3	-	22	3638	c.3518G>A	c.(3517-3519)gGa>gAa	p.G1173E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3681	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACTCTGTCCATCACCATG	0.478000														52			19		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31332500	31332500	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:31332500G>A	uc003aje.1	-	17	2913	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	579							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACGTACCTGAAGGGCCTCC	0.537000														59			72		0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86545077	86545077	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:86545077C>T	uc002fjl.3	+	0	945	c.902C>T	c.(901-903)tCc>tTc	p.S301F	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	301					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AACCCCCTGTCCGGCAGCCTC	0.706000														21			3		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538756	55538756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:55538756G>A	uc003xsd.1	+	3	2462	c.2314G>A	c.(2314-2316)Gga>Aga	p.G772R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	772					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)			CAAGGTTCAAGGACTTTTAAC	0.294000														18			14		0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40235421	40235421	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:40235421A>G	uc001ceb.1	-	0	1600	c.1507T>C	c.(1507-1509)Ttt>Ctt	p.F503L	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	503					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	GACACAGCAAAGGCACACCCC	0.652000														25			17		0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24738800	24738800	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:24738800C>T	uc010kus.1	-	9	1424	c.1336G>A	c.(1336-1338)Ggg>Agg	p.G446R	DFNA5_uc003sxa.1_Missense_Mutation_p.G446R|DFNA5_uc010kut.1_Missense_Mutation_p.G282R	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	446					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGCACAATCCCAAACCTTTCT	0.443000														28			30		0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11558265	11558265	+	Silent	SNP	C	T	T	rs149732361		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:11558265C>T	uc010xlz.2	+	10	1197	c.861C>T	c.(859-861)acC>acT	p.T287T	PRKCSH_uc002mrt.3_Silent_p.T287T|PRKCSH_uc002mru.3_Silent_p.T287T|PRKCSH_uc002mrv.1_Silent_p.T287T|PRKCSH_uc010dyb.3_Silent_p.T287T	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	287	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.T287T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CACTGCCCACCGACCTTCCAG	0.677000														33			5		0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6604786	6604786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:6604786C>T	uc003jdu.3	-	15	2131	c.1750G>A	c.(1750-1752)Ggg>Agg	p.G584R	NSUN2_uc003jdt.3_Missense_Mutation_p.G348R|NSUN2_uc011cmk.2_Missense_Mutation_p.G549R|NSUN2_uc003jdv.3_Missense_Mutation_p.G348R	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	584						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACTTTGATCCCCGTGTTAATA	0.453000														37			19		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143073	41143073	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:41143073G>C	uc003jmk.2	-	17	2869	c.2659C>G	c.(2659-2661)Cag>Gag	p.Q887E	C6_uc003jml.1_Missense_Mutation_p.Q887E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	887	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGAAGCACTGTGGGGGCAAT	0.433000														49			11		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559783	44559783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:44559783C>T	uc002lcr.1	-	0	2206	c.1853G>A	c.(1852-1854)cGg>cAg	p.R618Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	618	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TACTCTCAGCCGCTGCTCTGG	0.517000														72			36		0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5333116	5333116	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:5333116C>T	uc003gih.1	+	3	494	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	STK32B_uc010ida.1_Missense_Mutation_p.H97Y	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	144	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CCACATCATCCACAGGTAACT	0.547000														44			32		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130872864	130872864	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:130872864C>T	uc010fmh.2	-	3	959	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	187						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTACTACTTCTGAATTCCCA	0.418000														155			10		0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35436650	35436650	+	Splice_Site	SNP	A	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:35436650A>C	uc003okp.1	+	2	114	c.80_splice	c.e2+1	p.K27_splice	RPL10A_uc003oks.1_Splice_Site	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	27					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AAGCGCCGCAAGTGAGTGCCG	0.677000														17			28		0	0	1	0	0
SOCS3	9021	broad.mit.edu	37	17	76354553	76354553	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:76354553G>A	uc002jvl.2	-	1	1040	c.624C>T	c.(622-624)acC>acT	p.T208T	SOCS3_uc021uee.1_Silent_p.T208T	NM_003955	NP_003946	O14543	SOCS3_HUMAN	Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA.	208	SOCS box.				JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			CCGGCAGCTGGGTGACTTTCT	0.632000														30			37		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52514214	52514214	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:52514214C>T	uc003ded.4	+	12	1565	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	NISCH_uc003dec.1_Silent_p.S477S	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	477	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GTGAAGACTCCCGGCTCTCAG	0.647000														47			17		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308336	205308336	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:205308336A>T	uc001hcf.1	-	3	1311	c.743T>A	c.(742-744)tTc>tAc	p.F248Y	KLHDC8A_uc010prg.1_Missense_Mutation_p.F135Y|KLHDC8A_uc001hcg.1_Missense_Mutation_p.F248Y	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	248										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)			TTCCATGTCGAACACGTCCAT	0.612000														42			11		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387649	52387649	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:52387649C>T	uc003xqu.4	-	6	678	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	193	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTAAAAGCTCCCCCAGCCAC	0.522000														36			7		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551975	100551975	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:100551975C>T	uc003uxl.1	+	0	1226	c.426C>T	c.(424-426)atC>atT	p.I142I	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;									p.G142W(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCACTATTATCATGTCCTCTT	0.413000														801			99		0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58025075	58025075	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:58025075G>A	uc001spg.1	-	2	723	c.291C>T	c.(289-291)gtC>gtT	p.V97V	B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Silent_p.V97V|B4GALNT1_uc001spi.3_Silent_p.V97V|B4GALNT1_uc010srw.1_Silent_p.V174V	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	97					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAATAGCTCGGACTTGTTTCT	0.597000														139			99		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327492	57327492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:57327492G>A	uc002qnu.2	-	6	2669	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S744L|PEG3_uc002qnv.2_Missense_Mutation_p.S773L|PEG3_uc002qnw.2_Missense_Mutation_p.S649L|PEG3_uc002qnx.2_Missense_Mutation_p.S647L|PEG3_uc010etr.2_Missense_Mutation_p.S773L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	773					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTCTCATATGATTTTGCCTC	0.438000														78			87		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727789	35727789	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:35727789G>A	uc003jjo.3	+	20	3038	c.2927G>A	c.(2926-2928)gGa>gAa	p.G976E	SPEF2_uc003jjp.1_Missense_Mutation_p.G462E	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	976					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)			TCTCCTAAAGGAAAATCATCA	0.383000														58			11		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160966476	160966476	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:160966476G>A	uc003qtl.3	-	33	5514	c.5394C>T	c.(5392-5394)ctC>ctT	p.L1798L		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4306	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.L1798I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTTACCACAGAGAGGGATAT	0.388000														32			25		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203114	69203114	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:69203114C>G	uc003hdx.3	-	3	867	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	YTHDC1_uc003hdy.3_Missense_Mutation_p.E172Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	172	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TTCACTTCTTCCTTAGAAGAC	0.443000														59			44		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247813	179247813	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:179247813C>T	uc002uly.3	+	17	2303	c.1759C>T	c.(1759-1761)Cct>Tct	p.P587S	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.P562S|OSBPL6_uc010zfe.2_Missense_Mutation_p.P531S|OSBPL6_uc002ulz.3_Missense_Mutation_p.P526S|OSBPL6_uc002uma.3_Missense_Mutation_p.P566S	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	562					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CCTGCCAGCTCCTTGTCCTGA	0.507000														38			35		0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66853527	66853527	+	Missense_Mutation	SNP	G	A	A	rs143302973		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:66853527G>A	uc002aqc.3	-	4	739	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	LCTL_uc002aqd.4_Missense_Mutation_p.R30W|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	203					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R203R(2)|p.P202H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCTTACCCGAGGATCACTG	0.547000														75			30		0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748252	68748252	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:68748252C>T	uc010rqf.2	-	0	204	c.204G>A	c.(202-204)ctG>ctA	p.L68L		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGCTGCCGCCAGGTTGAGGA	0.577000														15			33		0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301871	139301871	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:139301871G>A	uc004chi.3	-	4	750	c.545C>T	c.(544-546)aCc>aTc	p.T182I	SDCCAG3_uc004chj.3_Missense_Mutation_p.T159I|SDCCAG3_uc004chk.3_Missense_Mutation_p.T109I	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	182						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		ACTCCATCCGGTGTCCTCATC	0.627000														10			7		0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129156130	129156130	+	Silent	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:129156130T>C	uc003emh.1	-	2	533	c.357A>G	c.(355-357)agA>agG	p.R119R	IFT122_uc003eml.3_5'Flank|IFT122_uc003emm.3_5'Flank|IFT122_uc003emn.3_5'Flank|IFT122_uc003emo.3_5'Flank|IFT122_uc003emp.3_5'Flank|IFT122_uc010htc.3_5'Flank|IFT122_uc011bky.2_5'Flank|MBD4_uc003emi.1_Silent_p.R119R|MBD4_uc003emj.1_Silent_p.R119R|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Silent_p.R119R|IFT122_uc011bkx.1_5'Flank	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	119	MBD.				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AACTTTTGGATCTGAACTTCA	0.338000								Base excision repair (BER), DNA glycosylases						12			6		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137530	97137530	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:97137530G>A	uc021rcc.1	+	20	2752	c.2674G>A	c.(2674-2676)Gga>Aga	p.G892R				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	892										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTGCTGGAAGGAAATGAATT	0.348000														13			5		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436774	66436774	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:66436774C>T	uc002eom.4	+	11	2213	c.2057C>T	c.(2056-2058)gCg>gTg	p.A686V		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	686					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCCCTCTATGCGCAGGTGCAG	0.706000														20			9		0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894811	48894811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:48894811C>T	uc003gyt.3	-	5	564	c.361G>A	c.(361-363)Ggt>Agt	p.G121S	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	121						endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GGACCAAAACCAGCCCCACGG	0.363000														167			114		0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049099	58049099	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:58049099G>A	uc002qpb.2	+	3	976	c.727G>A	c.(727-729)Gga>Aga	p.G243R	ZNF549_uc002qpa.2_Missense_Mutation_p.G230R	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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;0.026)		AGTCCACACTGGAGAAAAAGC	0.388000														33			43		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170801	90170801	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:90170801G>A	uc003hsm.1	-	1	980	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_uc021xqb.1_Missense_Mutation_p.S154F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	154										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCATCAGGGAATCTTCAGG	0.512000														102			81		0	0	1	0	0
B4GALT1	2683	broad.mit.edu	37	9	33167144	33167144	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:33167144C>T	uc003zsg.2	-	0	213	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_001497	NP_001488	P15291	B4GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA.	8					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane	N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CGCTGCCGCTCAGGAGCGGCT	0.721000														10			4		0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089375	137089376	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:137089375_137089376GG>AA	uc003lbt.3	-	0	664_665	c.380_381CC>TT	c.(379-381)gcc>gTT	p.A127V	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	127	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAATAATCTCGGCCTTTTCCAC	0.564000														80			27		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533427	145533427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:145533427C>T	uc001eoa.3	+	11	1386	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F	ITGA10_uc010oyv.2_Missense_Mutation_p.S306F|ITGA10_uc009wiw.3_Missense_Mutation_p.S294F|ITGA10_uc010oyw.2_Missense_Mutation_p.S382F	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	437					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGTTTCTTCCATGCTTTTG	0.512000														124			48		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077227	57077227	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:57077227G>A	uc001njr.3	-	4	3270	c.2958C>T	c.(2956-2958)ttC>ttT	p.F986F	TNKS1BP1_uc001njs.3_Silent_p.F986F|TNKS1BP1_uc009ymd.1_Silent_p.F437F	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	986	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCTCGGGGCTGAACCCAGAGC	0.587000														16			46		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70913340	70913340	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:70913340T>C	uc002ezr.3	-	61	10565	c.10414A>G	c.(10414-10416)Aac>Gac	p.N3472D		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3473										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)				CGAGGGAGGTTCCCCTCACCA	0.547000														56			20		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10633225	10633225	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr20:10633225G>A	uc002wnw.2	-	5	1293	c.777C>T	c.(775-777)ggC>ggT	p.G259G	JAG1_uc010gcd.1_5'Flank	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	259	EGF-like 1.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGTACAGGCCTTGCCAGC	0.552000									Alagille Syndrome					30			22		0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26368427	26368427	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:26368427C>T	uc010jqh.2	+	2	276	c.17C>T	c.(16-18)tCc>tTc	p.S6F	BTN3A2_uc003nhp.3_Missense_Mutation_p.S6F|BTN3A2_uc011dkd.2_Intron|BTN3A2_uc011dke.2_Intron|BTN3A2_uc010jqi.2_Missense_Mutation_p.S6F	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	6						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						ATGGCAAGTTCCCTGGCTTTC	0.463000														130			24		0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017747	33017747	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:33017747G>A	uc010abe.1	-	6	949	c.927C>T	c.(925-927)acC>acT	p.T309T	N4BP2L2_uc001uug.2_Silent_p.T192T|N4BP2L2_uc010abd.1_Silent_p.T222T|N4BP2L2_uc001uuh.2_Silent_p.T140T|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.T294T|N4BP2L2_uc021rhy.1_5'Flank	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAAGGTCCTGGGTGTCTAATG	0.388000														13			14		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129774169	129774169	+	Silent	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:129774169C>A	uc021zfb.1	+	45	6571	c.6466C>A	c.(6466-6468)Cga>Aga	p.R2156R	LAMA2_uc003qbn.3_Silent_p.R2154R|LAMA2_uc003qbo.3_Silent_p.R2154R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2156	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGACTGCATTCGAACATACAA	0.358000														7			11		2.27111e-07	2.29604e-07	1	1	0
MEIS1	4211	broad.mit.edu	37	2	66691301	66691301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:66691301C>T	uc002sdu.3	+	6	1148	c.691C>T	c.(691-693)Cct>Tct	p.P231S	MEIS1_uc002sdt.3_Missense_Mutation_p.P231S|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Missense_Mutation_p.P166S|MEIS1_uc002sdw.1_Missense_Mutation_p.P87S	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	231	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AACCCCAGGCCCTTCCAGCGG	0.493000														10			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396684	197396684	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:197396684C>T	uc001gtz.3	+	6	2438	c.2229C>T	c.(2227-2229)gtC>gtT	p.V743V	CRB1_uc010poz.2_Silent_p.V674V|CRB1_uc009wza.3_Silent_p.V631V|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.V224V|CRB1_uc001gub.1_Silent_p.V392V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	743	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.V743I(1)		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						CCATGTTTGTCCGAACGCTTC	0.478000														28			35		0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29226322	29226322	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:29226322G>T	uc002hfu.2	-	3	1018	c.948C>A	c.(946-948)ttC>ttA	p.F316L	TEFM_uc002hfv.2_Non-coding_Transcript	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	Homo sapiens transcription elongation factor, mitochondrial (TEFM), nuclear gene encoding mitochondrial protein, mRNA.	316					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										CTGATGGGAAGAACACCCGAG	0.393000														92			47		2.77807e-22	2.85414e-22	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47666560	47666560	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:47666560C>T	uc002zir.1	-	20	4567	c.4531G>A	c.(4531-4533)Gag>Aag	p.E1511K	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_5'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.E252K|MCM3AP_uc002ziq.1_Missense_Mutation_p.E438K|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1511					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACTTCCTTCTCAACGGCGTCC	0.547000														260			52		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130779926	130779926	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:130779926G>A	uc001qgk.4	-	3	2569	c.2021C>T	c.(2020-2022)tCt>tTt	p.S674F	SNX19_uc010sce.2_Missense_Mutation_p.S54F|SNX19_uc010scf.2_Missense_Mutation_p.S117F|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.S674F|SNX19_uc009zcx.1_Non-coding_Transcript	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	674					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GTCTATTCTAGAGACCATAAA	0.453000														19			44		0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988363	64988363	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:64988363C>T	uc021rul.1	+	0	141	c.141C>T	c.(139-141)tcC>tcT	p.S47S	ZBTB1_uc001xhh.4_Silent_p.S47S|ZBTB1_uc010aqg.3_Silent_p.S47S|ZBTB1_uc001xhi.2_Silent_p.S47S	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	47	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CCTGTAGCTCCTATTTTAGAA	0.378000														36			15		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672272	77672272	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:77672272A>G	uc021rks.1	-	55	9284	c.9017T>C	c.(9016-9018)tTt>tCt	p.F3006S	MYCBP2_uc010aev.3_Missense_Mutation_p.F2372S|MYCBP2_uc001vkg.1_Missense_Mutation_p.F491S|MYCBP2_uc010aew.3_Missense_Mutation_p.F354S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2968					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTGAAAAGAAAACTCGATTT	0.448000														68			41		0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114655981	114655981	+	Missense_Mutation	SNP	C	T	T	rs145223906	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:114655981C>T	uc003vhf.3	+	4	1323	c.733C>T	c.(733-735)Cct>Tct	p.P245S		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	245					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						AATTTGTTTTCCTTCATAAAT	0.363000														110			22		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131745	72131745	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:72131745C>T	uc004ahh.2	-	1	658	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	128					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCGTGTACTCCTCGGCCTCG	0.716000														20			12		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140991020	140991020	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:140991020G>A	uc004cog.3	+	35	5318	c.5173G>A	c.(5173-5175)Gat>Aat	p.D1725N	CACNA1B_uc022bqn.1_Missense_Mutation_p.D1725N|CACNA1B_uc004coi.3_Missense_Mutation_p.D939N|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1727	EF-hand.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.H1725N(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCACCACTTGGATGAGTTCAT	0.552000														27			20		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107342365	107342365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:107342365G>A	uc003vep.3	+	16	2121	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	SLC26A4_uc011kmb.2_Missense_Mutation_p.E220K|SLC26A4_uc011kmc.2_Missense_Mutation_p.E194K|SLC26A4_uc011kmd.2_Missense_Mutation_p.E202K	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	633	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCCAACCAAGGAAATAGAGAT	0.418000									Pendred syndrome					52			37		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129782022	129782022	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:129782022G>A	uc001qfm.3	-	18	3184	c.2952C>T	c.(2950-2952)atC>atT	p.I984I	PRDM10_uc001qfj.3_Silent_p.I898I|PRDM10_uc001qfk.3_Intron|PRDM10_uc001qfl.3_Silent_p.I898I|PRDM10_uc010sbx.2_Silent_p.I894I|PRDM10_uc001qfn.3_Silent_p.I980I	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	984	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGCTGACCTGGATGTGCTGCA	0.602000														30			68		0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117187910	117187910	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:117187910C>T	uc009zwn.3	+	3	581	c.348C>T	c.(346-348)ttC>ttT	p.F116F	RNFT2_uc001twb.4_Silent_p.F116F|RNFT2_uc001twa.4_Silent_p.F26F	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	116	His-rich.					integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACCACCATTTCCACCATGGCG	0.751000														4			4		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931439	184931439	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:184931439G>A	uc003ivz.1	+	2	2883	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	STOX2_uc003iwa.1_Missense_Mutation_p.R172K	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	483					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGGAATGAGAGATCCAACAAA	0.542000														4			7		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6652951	6652952	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:6652951_6652952GG>AA	uc001mem.1	-	6	3971_3972	c.3570_3571CC>TT	c.(3568-3573)ccccgc>ccTTgc	p.R1191C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1191	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTGCTGCGGGGTGGGCTCC	0.614000														9			3		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721154	56721154	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:56721154G>A	uc001skx.3	-	5	1290	c.913C>T	c.(913-915)Cag>Tag	p.Q305*	PAN2_uc001sky.3_Nonsense_Mutation_p.Q305*|PAN2_uc001skz.3_Nonsense_Mutation_p.Q305*	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	305					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATACCTGACTGAGAGATGATA	0.483000														60			32		0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3486837	3486838	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:3486837_3486838CC>TT	uc002cvd.3	-	3	1045_1046	c.861_862GG>AA	c.(859-864)gaggaa>gaAAaa	p.E288K		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ACGAATGTTTCCTCAGGCAAAG	0.460000														89			24		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73461384	73461384	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:73461384G>A	uc004aid.3	-	3	830	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	TRPM3_uc004ahu.3_Nonsense_Mutation_p.Q26*|TRPM3_uc004ahv.3_Nonsense_Mutation_p.Q26*|TRPM3_uc004ahw.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004ahx.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004ahy.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004ahz.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aia.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aib.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aic.3_Nonsense_Mutation_p.Q196*|TRPM3_uc010mor.3_Nonsense_Mutation_p.Q196*|TRPM3_uc004aie.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aif.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aig.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aii.3_Nonsense_Mutation_p.Q198*	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	196						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGTTTTGGCTGGAGTTCAAAG	0.483000														80			58		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91690670	91690670	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:91690670C>T	uc003ulg.3	+	22	5923	c.5698C>T	c.(5698-5700)Cga>Tga	p.R1900*	AKAP9_uc003ulf.3_Nonsense_Mutation_p.R1900*|AKAP9_uc003uli.3_Nonsense_Mutation_p.R1523*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1912	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAGGAACTTCGAGAGCGCCT	0.488000			T	BRAF	papillary thyroid									57			14		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556133	29556133	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:29556133C>T	uc002hgg.3	+	20	2883	c.2500C>T	c.(2500-2502)Cta>Tta	p.L834L	NF1_uc002hgh.3_Silent_p.L834L|NF1_uc010csn.2_Silent_p.L694L|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	834					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACAGACTCCCTACAGGAATG	0.507000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				40			19		0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514574	99514574	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:99514574G>A	uc003dti.1	+	2	1960	c.1832G>A	c.(1831-1833)gGg>gAg	p.G611E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G610E|COL8A1_uc003dth.1_Missense_Mutation_p.G610E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	610	C1q.|Nonhelical region (NC1).				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						AAGAATGGAGGGCCAGCCTAT	0.567000														35			25		0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37487866	37487866	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:37487866G>A	uc003zzz.1	+	1	661	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	POLR1E_uc011lqj.1_Missense_Mutation_p.E63K|POLR1E_uc003zzy.1_Missense_Mutation_p.E63K|POLR1E_uc011lqk.1_5'UTR	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN	Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA.	125					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TTAGGCAGCTGAAACAGATAG	0.443000														32			21		0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20729881	20729881	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr22:20729881G>A	uc011ahq.1	-	1	143	c.77C>T	c.(76-78)cCt>cTt	p.P26L	USP41_uc011ahp.1_5'Flank					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						CATCTGGAAAGGGACGCTTCT	0.577000														11			5		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722463	14722463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:14722463C>T	uc003zlj.3	-	0	253	c.208G>A	c.(208-210)Ggg>Agg	p.G70R		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	70					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TGGCCTTCCCCTGCAGGGCTG	0.532000														48			16		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418770	113418770	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:113418770G>A	uc003ynu.3	-	34	5951	c.5792C>T	c.(5791-5793)tCc>tTc	p.S1931F	CSMD3_uc003yns.3_Missense_Mutation_p.S1133F|CSMD3_uc003ynt.3_Missense_Mutation_p.S1891F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1827F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1931	Sushi 10.					integral to membrane|plasma membrane		p.D1930Y(1)|p.S1931S(1)		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						AGTAGGTAAGGAATCATTCCA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				49			10		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166324	118166324	+	Silent	SNP	C	T	T	rs140288057	by1000genomes	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:118166324C>T	uc021osq.1	+	0	834	c.834C>T	c.(832-834)ttC>ttT	p.F278F	FAM46C_uc001ehe.3_Silent_p.F278F	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	278										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TCATCGACTTCCCGGACATCC	0.488000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				41			19		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6093472	6093472	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:6093472C>T	uc002kmz.4	-	14	1415	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	L3MBTL4_uc002kmy.4_Missense_Mutation_p.D419N|L3MBTL4_uc010dkt.3_Missense_Mutation_p.D419N	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	419					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTCAAACGATCGTGAAGTGTT	0.378000														24			13		0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407734	1407734	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:1407734G>A	uc010nct.2	+	6	748	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.P142P|CSF2RA_uc004cpq.2_Silent_p.P142P|CSF2RA_uc004cpn.2_Silent_p.P142P|CSF2RA_uc004cpo.2_Silent_p.P142P|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.P9P|CSF2RA_uc004cpp.2_Silent_p.P142P|CSF2RA_uc010ncv.2_Silent_p.P142P|CSF2RA_uc004cpr.2_Silent_p.P142P	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	142						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGAGGGGTCCGACGGCCCCCC	0.478000														117			76		0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63958147	63958147	+	Silent	SNP	A	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:63958147A>G	uc001jlw.3	-	11	1447	c.1350T>C	c.(1348-1350)atT>atC	p.I450I	RTKN2_uc009xpf.1_Silent_p.I252I|RTKN2_uc001jlv.3_Silent_p.I104I	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	450					signal transduction	intracellular		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TTGTCTCTTCAATTTTTTTTT	0.333000														7			18		0	0	1	0	0
DSCR4	10281	broad.mit.edu	37	21	39493250	39493250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr21:39493250C>T	uc002ywp.3	-	0	205	c.100G>A	c.(100-102)Gat>Aat	p.D34N	DSCR8_uc002ywt.4_5'Flank|DSCR8_uc010gnp.3_5'Flank|DSCR8_uc010gnq.3_5'Flank|DSCR8_uc010gnr.3_5'Flank|DSCR8_uc010gns.3_5'Flank	NM_005867	NP_005858	P56555	DSCR4_HUMAN	Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA.	34										large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						gaggcaggatcaggaagcggg	0.507000														20			4		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343668	248343668	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:248343668C>T	uc010pzf.2	+	0	381	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TTGCTATTTGCCACCCTCTAA	0.408000														291			182		0	0	1	0	0
PTRH2	51651	broad.mit.edu	37	17	57775142	57775142	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:57775142C>T	uc002ixt.3	-	1	323	c.198G>A	c.(196-198)aaG>aaA	p.K66K	PTRH2_uc002ixs.3_Non-coding_Transcript	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA.	66					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAAGAATCATCTTGTACTCCC	0.468000														62			37		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686707	78686707	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:78686707C>A	uc004akc.2	+	6	1325	c.787C>A	c.(787-789)Cag>Aag	p.Q263K	PCSK5_uc004ajy.2_Missense_Mutation_p.Q263K|PCSK5_uc004ajz.3_Missense_Mutation_p.Q263K|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	263	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTTCAACCCCCAGCACGTGCA	0.552000														92			61		7.38948e-41	7.66176e-41	1	1	0
LGR6	59352	broad.mit.edu	37	1	202279450	202279450	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:202279450C>T	uc001gxu.3	+	15	1532	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	LGR6_uc001gxv.3_Missense_Mutation_p.P459L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.P372L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	511						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCAAAAAGGCCCCTGGGCCTC	0.582000														47			65		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925045	89925045	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:89925045G>A	uc003kju.3	+	8	1624	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	510					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)		CTACATTCAGGATAGTGATGA	0.338000														21			9		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626196	48626196	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:48626196G>A	uc003ctz.2	-	18	2467	c.2466C>T	c.(2464-2466)ctC>ctT	p.L822L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	822	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTTTCCTGGGAGTATCTGGT	0.627000														59			19		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115624343	115624343	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:115624343C>T	uc003vhj.2	-	1	406	c.153G>A	c.(151-153)ggG>ggA	p.G51G	TFEC_uc003vhk.2_Silent_p.G51G|TFEC_uc003vhl.4_Silent_p.G51G|TFEC_uc011kmw.2_Silent_p.G141G	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	51	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CATCTTCTTTCCCAATAGCTA	0.413000														117			31		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227900	39227900	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:39227900G>A	uc003cjk.2	-	1	3266	c.3037C>T	c.(3037-3039)Caa>Taa	p.Q1013*	XIRP1_uc003cji.3_Nonsense_Mutation_p.Q1013*|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Nonsense_Mutation_p.Q1013*	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1013							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTTTGCAATTGGGCTGGTGCT	0.597000														28			13		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36054387	36054387	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:36054387C>T	uc002oal.1	-	1	84	c.55G>A	c.(55-57)Ggc>Agc	p.G19S		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	19					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATGTCCCCGCCAGGGCCAGGA	0.582000														90			99		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89732143	89732143	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:89732143G>C	uc001dnc.3	-	6	1291	c.754C>G	c.(754-756)Cct>Gct	p.P252A	GBP5_uc001dnd.3_Missense_Mutation_p.P252A|GBP5_uc001dne.1_Missense_Mutation_p.P252A	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	252						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCATCATCAGGCAGTGTTTCA	0.413000														91			34		0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636301	42636301	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:42636301C>T	uc002igx.2	+	0	1490	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	415					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGGGGCTTCGTGCTAGCGC	0.637000														90			32		0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873216	37873216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:37873216C>T	uc021vfz.1	-	0	515	c.515G>A	c.(514-516)tGg>tAg	p.W172*	CDC42EP3_uc002rqi.1_Nonsense_Mutation_p.W172*	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	172					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	p.S171S(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GCTGGAGCCCCACGAGGTGTC	0.592000														79			29		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721269	160721269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:160721269C>T	uc003lys.1	-	10	1576	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGAGCATTTCGGCCAAAACT	0.532000														58			20		0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111727724	111727724	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:111727724C>A	uc004bdo.1	-	10	1567	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	CTNNAL1_uc010mts.1_Nonsense_Mutation_p.E161*|CTNNAL1_uc004bdp.1_Nonsense_Mutation_p.E509*	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	509					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		ATTTGGGATTCCCAAGCTTCA	0.348000														35			10		3.07112e-06	3.09865e-06	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965695	35965695	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:35965695C>T	uc003jjv.2	-	3	829	c.636G>A	c.(634-636)agG>agA	p.R212R	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.R212R|UGT3A1_uc011cor.2_Silent_p.R178R|UGT3A1_uc003jjy.2_Silent_p.R158R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	212						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)			CCCATTGGCTCCTGGAGAAAC	0.463000														56			35		0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72741160	72741160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:72741160C>T	uc010wrc.2	+	7	708	c.518C>T	c.(517-519)cCc>cTc	p.P173L	RAB37_uc002jlc.2_3'UTR|RAB37_uc002jld.2_Missense_Mutation_p.P161L|RAB37_uc010dfu.3_Missense_Mutation_p.P161L|RAB37_uc010wrb.2_Missense_Mutation_p.P136L|RAB37_uc002jlk.3_Missense_Mutation_p.P168L|RAB37_uc010wre.2_Missense_Mutation_p.P131L	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	168					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TACGGTGTTCCCTTCCTGGAG	0.617000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			10		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	58004378	58004378	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:58004378A>T	uc002aem.3	+	12	1632	c.1501A>T	c.(1501-1503)Aat>Tat	p.N501Y	GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Missense_Mutation_p.N88Y|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Missense_Mutation_p.N319Y|GCOM1_uc002aeu.4_Missense_Mutation_p.N162Y	NM_001018090	NP_001018100	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA.	338					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCAGAAACAGAATTATGAGGT	0.423000														37			14		0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000														21			3		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045643	53045643	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:53045643C>T	uc003xqz.2	-	15	2574	c.2418G>A	c.(2416-2418)aaG>aaA	p.K806K	ST18_uc011ldq.1_Silent_p.K453K|ST18_uc011ldr.1_Silent_p.K771K|ST18_uc011lds.1_Silent_p.K711K|ST18_uc003xra.2_Silent_p.K806K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	806						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T805T(1)		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)				CTTTTTCTTCCTTGGTAGGGG	0.473000														71			43		0	0	1	0	0
RPS19	6223	broad.mit.edu	37	19	42364908	42364908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:42364908C>T	uc002ort.3	+	1	436	c.64C>T	c.(64-66)Ctc>Ttc	p.L22F		NM_001022	NP_001013	P39019	RS19_HUMAN	Homo sapiens ribosomal protein S19 (RPS19), mRNA.	22					endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|rRNA processing|response to extracellular stimulus|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGCAGCCTTCCTCAAAAAGTG	0.567000									Diamond-Blackfan Anemia					51			57		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66872631	66872631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:66872631C>T	uc002jhq.3	-	34	4680	c.4340G>A	c.(4339-4341)gGg>gAg	p.G1447E	ABCA8_uc002jhp.3_Missense_Mutation_p.G1407E|ABCA8_uc010wqq.2_Missense_Mutation_p.G1442E	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1407	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGGGTCCATCCCGGTCGACGG	0.567000														66			50		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21546454	21546454	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:21546454G>A	uc001bek.2	-	18	2382	c.2307C>T	c.(2305-2307)gtC>gtT	p.V769V	ECE1_uc001bem.2_Silent_p.V753V|ECE1_uc001bej.2_Silent_p.V757V|ECE1_uc001bei.2_Silent_p.V766V|ECE1_uc010odl.1_Silent_p.V737V	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	769					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTCCTTACCAGACTTCGCACT	0.622000														26			18		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113149577	113149577	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:113149577G>A	uc010mtz.3	-	41	10385	c.10048C>T	c.(10048-10050)Cct>Tct	p.P3350S	SVEP1_uc010mty.3_Missense_Mutation_p.P1276S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3350	Sushi 32.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.S3349N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTGCAGAGAGGGACTGGGTGG	0.483000														39			28		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6596420	6596420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr4:6596420C>T	uc003gjf.1	+	6	1054	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	MAN2B2_uc003gje.1_Missense_Mutation_p.R340C|MAN2B2_uc011bwf.1_Missense_Mutation_p.R289C	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	340					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTCACCTGGCGTGTCCGCGA	0.617000														39			13		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616090	92616090	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:92616090C>T	uc001pdj.4	+	22	12485	c.12468C>T	c.(12466-12468)atC>atT	p.I4156I	FAT3_uc001pdi.4_Silent_p.I596I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4156					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGAGCTCATCGGCATCGCCG	0.592000										TCGA Ovarian(4;0.039)				10			11		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672948	99672948	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:99672948C>T	uc002bup.3	+	4	4500	c.4380C>T	c.(4378-4380)acC>acT	p.T1460T	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1461	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CTTCGTTTACCTTTCAGATGG	0.567000														192			55		0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36227307	36227307	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:36227307G>A	uc010mlh.3	-	6	1440	c.1219C>T	c.(1219-1221)Cta>Tta	p.L407L	GNE_uc010mlg.3_Silent_p.L407L|GNE_uc011lpl.2_Silent_p.L297L|GNE_uc010mli.3_Silent_p.L438L|GNE_uc010mlj.3_Silent_p.L402L	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	407	N-acetylmannosamine kinase.				N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			AAGGCACTTAGAGTTTCAAGA	0.408000														22			12		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121747651	121747651	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:121747651G>A	uc001uag.3	-	15	2031	c.1909C>T	c.(1909-1911)Cca>Tca	p.P637S	ANAPC5_uc010szu.2_Missense_Mutation_p.P303S|ANAPC5_uc001uae.3_Missense_Mutation_p.P201S|ANAPC5_uc010szv.2_Missense_Mutation_p.P239S|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.P525S	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	637					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCTGTTCTGGGATTCCAAGA	0.507000														63			42		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11532833	11532833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr17:11532833G>A	uc002gne.3	+	6	1518	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	484	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAATGCATGAAGAATTTCA	0.542000														103			47		0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42666229	42666229	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:42666229C>T	uc003osk.3	-	2	1131	c.845G>A	c.(844-846)gGg>gAg	p.G282E		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	282					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTAGCGCAGCCCAATTGTAAT	0.577000														42			50		0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119634959	119634959	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:119634959C>T	uc003edo.3	-	4	1523	c.540G>A	c.(538-540)cgG>cgA	p.R180R	GSK3B_uc003edn.3_Silent_p.R180R	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	180	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding	p.R180Q(1)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTTTAATATCCCGATGGCAGA	0.408000														20			15		0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71932097	71932097	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:71932097C>T	uc009yte.3	+	2	497	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	FOLR2_uc009ytf.3_Nonsense_Mutation_p.Q112*|FOLR2_uc009ytd.3_Nonsense_Mutation_p.Q112*|FOLR2_uc001ose.4_Nonsense_Mutation_p.Q112*	NM_001113535	NP_001107008	P14207	FOLR2_HUMAN	Homo sapiens folate receptor 2 (fetal) (FOLR2), transcript variant 3, mRNA.	112				IQ -> VR (in Ref. 4; AA sequence).	folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GCCCTGGATCCAGCAGGTAGG	0.637000														1			18		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848929	73848929	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:73848929G>A	uc003xzb.3	+	2	1927	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	447					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAAAAGGAACGGAAGCATCGT	0.453000														65			60		0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419064	48419064	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chrX:48419064C>T	uc011mmb.1	+	5	1866	c.1780C>T	c.(1780-1782)Ccg>Tcg	p.P594S	TBC1D25_uc004dka.1_Missense_Mutation_p.P590S|TBC1D25_uc011mly.1_Missense_Mutation_p.P532S|TBC1D25_uc004dkb.1_Missense_Mutation_p.P336S|TBC1D25_uc011mlz.1_Missense_Mutation_p.P336S|TBC1D25_uc011mma.1_Missense_Mutation_p.P336S|TBC1D25_uc004dkc.1_Missense_Mutation_p.P336S|TBC1D25_uc011mmd.1_Missense_Mutation_p.P336S|TBC1D25_uc011mmc.1_Missense_Mutation_p.P336S	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	590						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGTAGGCTCCCCGAAAGACCC	0.602000														14			84		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28825788	28825788	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr2:28825788G>A	uc002rmb.2	+	39	2818	c.2774_splice	c.e39+1	p.S925_splice	PLB1_uc010ezj.2_Splice_Site_p.S914_splice|PLB1_uc002rme.2_Splice_Site	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	925	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGCAGGCCAGGTAGGCAGGT	0.597000														35			41		0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158074587	158074587	+	Silent	SNP	C	G	G			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:158074587C>G	uc003qqt.3	+	7	1493	c.996C>G	c.(994-996)ccC>ccG	p.P332P	ZDHHC14_uc003qqs.3_Silent_p.P332P|ZDHHC14_uc010kjn.3_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	332						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		ACATCCAGCCCGACACGCCGC	0.567000														49			11		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51132559	51132559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:51132559C>T	uc002pst.3	-	3	1907	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	SYT3_uc002psv.3_Missense_Mutation_p.G425S|SYT3_uc010ycd.2_Missense_Mutation_p.G425S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	425						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G425D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		ACCGAGCCGCCCTCCACGATG	0.682000														24			3		0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138362517	138362517	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:138362517G>A	uc003ldo.3	-	6	824	c.618C>T	c.(616-618)ctC>ctT	p.L206L	SIL1_uc003ldp.3_Silent_p.L206L|SIL1_uc003ldq.1_Intron	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	206	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAGATCAAAGAGCGCAGCAA	0.413000									Marinesco-Sjgren syndrome					56			22		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678075	87678075	+	Silent	SNP	C	T	T	rs138715600	byFrequency	TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:87678075C>T	uc002fkd.3	+	1	848	c.594C>T	c.(592-594)ctC>ctT	p.L198L	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	198					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTTCGTGCTCGTGGCCCACA	0.682000														51			65		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125616864	125616864	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:125616864G>A	uc010mwc.1	-	15	3087	c.2846C>T	c.(2845-2847)tCa>tTa	p.S949L	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.S949L|RC3H2_uc004bne.4_Missense_Mutation_p.S949L	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	949						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACTCCACCTTGAATCAACAGC	0.368000														29			18		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178151	36178151	+	Silent	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr6:36178151C>T	uc003olv.4	+	5	2249	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	BRPF3_uc010jwb.3_Silent_p.F675F|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.F675F	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	675	Bromo.				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						ACACAATTTTCCACCGAGCAG	0.572000														57			64		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114983	75114983	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr15:75114983G>A	uc002ayt.1	+	11	1134	c.1132_splice	c.e11-1	p.D378_splice	LMAN1L_uc010bke.1_Splice_Site_p.D366_splice|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	378						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCTCTGCAGGACTCTGCCAA	0.637000														34			11		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910093	35910093	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:35910093C>T	uc003jjt.1	-	3	495	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CAPSL_uc003jju.1_Missense_Mutation_p.E134K	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	134	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CGAAGGTCTTCGATTGTTATA	0.383000														61			37		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437028	120437028	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:120437028G>A	uc001eij.3	-	0	2120	c.1932C>T	c.(1930-1932)tgC>tgT	p.C644C		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	644	EGF-like.				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)		TTCTGTTGTTGCAAACACCCC	0.498000														41			11		0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103869144	103869145	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:103869144_103869145GG>AA	uc009xwz.3	-	8	1195_1196	c.852_853CC>TT	c.(850-855)ccccct>ccTTct	p.P285S	LDB1_uc001kuk.4_Missense_Mutation_p.P249S|LDB1_uc001kul.3_Missense_Mutation_p.P249S	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	285					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CACTCACCAGGGGGTGCTACCA	0.554000														13			16		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140273704	140273705	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:140273704_140273705GG>AA	uc010lnk.3	-	5	1869_1870	c.1349_1350CC>TT	c.(1348-1350)tcc>tTT	p.S450F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S450F|DENND2A_uc003vvw.3_Missense_Mutation_p.S450F|DENND2A_uc003vvx.3_Missense_Mutation_p.S450F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	450										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGCTGATTTTGGAAGGGGACCC	0.495000														199			50		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8378333	8378333	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr18:8378333C>T	uc002knn.4	+	24	3997	c.3494C>T	c.(3493-3495)tCc>tTc	p.S1165F	PTPRM_uc010dkv.3_Missense_Mutation_p.S1178F|PTPRM_uc010wzl.2_Missense_Mutation_p.S952F	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1165					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTGCCTGCTTCCCAAGTTAGG	0.478000														35			20		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153723	5153723	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr12:5153723C>T	uc001qni.3	+	0	639	c.410C>T	c.(409-411)aCc>aTc	p.T137I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	137						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						CAGCTGGGCACCCTGGCGCAG	0.677000														39			35		0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220162041	220162041	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:220162041C>T	uc001hly.1	-	18	2936	c.2666G>A	c.(2665-2667)aGa>aAa	p.R889K	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.R640K|EPRS_uc001hlz.1_Missense_Mutation_p.R896K	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	889	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCAGAATTTCTGGTTGGGCT	0.418000														59			61		0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99171532	99171532	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr13:99171532G>A	uc001vnm.1	-	1	509	c.274C>T	c.(274-276)Cca>Tca	p.P92S	STK24_uc001vnn.1_Missense_Mutation_p.P80S|STK24_uc010tim.1_Missense_Mutation_p.P80S	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	92	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GTTACATATGGACTGTCACAC	0.433000														105			72		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48455200	48455200	+	Silent	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr3:48455200G>A	uc003csw.2	-	22	4684	c.4414C>T	c.(4414-4416)Ctg>Ttg	p.L1472L	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Silent_p.L1289L|PLXNB1_uc003csx.2_Silent_p.L1472L|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1472					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGTGACCCAGGGAGAAGCGC	0.642000														30			14		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8185909	8185909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr8:8185909G>A	uc003wsh.4	-	3	2383	c.2383C>T	c.(2383-2385)Cct>Tct	p.P795S		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	795							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGCCTGAAGGAAACGGAACG	0.602000														54			35		0	0	1	0	0
KIAA0494	9813	broad.mit.edu	37	1	47130937	47130937	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:47130937C>A	uc010omh.1	-	9	2197	c.1220G>T	c.(1219-1221)tGg>tTg	p.W407L	ATPAF1_uc009vyk.3_5'UTR|ATPAF1_uc010omg.2_Silent_p.V34V|ATPAF1_uc001cqh.3_Silent_p.V122V|ATPAF1_uc001cqi.3_Silent_p.V122V	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	460							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					CCTTCTGTTCCACACATTTGA	0.493000														30			29		5.8336e-16	5.94511e-16	1	1	0
TEK	7010	broad.mit.edu	37	9	27229199	27229199	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:27229199G>A	uc011lno.2	+	21	3657	c.3215G>A	c.(3214-3216)gGa>gAa	p.G1072E	TEK_uc003zqi.4_Missense_Mutation_p.G1115E|TEK_uc011lnp.2_Missense_Mutation_p.G967E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1115	Protein kinase.				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)		ACTTATGCAGGAATTGACTGT	0.468000														57			24		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67432876	67432877	+	Nonsense_Mutation	DNP	GG	AC	AC			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:67432876_67432877GG>AC	uc001omr.3	-	6	1024_1025	c.585_586CC>GT	c.(583-588)ccccag>ccGTag	p.Q196*	ALDH3B2_uc001oms.3_Nonsense_Mutation_p.Q196*|ALDH3B2_uc009ysa.1_Nonsense_Mutation_p.Q196*	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	196					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGGAGCTCTGGGGGTCGTCGC	0.653000														34			56		0	0	1	0	0
MGC72080	389538	broad.mit.edu	37	7	97599113	97599114	+	RNA	DNP	GG	AA	AA			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:97599113_97599114GG>AA	uc010lfp.1	-	1		c.253_254CC>TT			MGC72080_uc003upa.1_Non-coding_Transcript|MGC72080_uc003upb.1_Non-coding_Transcript					Homo sapiens MGC72080 pseudogene (MGC72080), non-coding RNA.																		TTCAATAACTGGTTTTCCATCT	0.282000														48			20		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1555462	1555462	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr16:1555462A>T	uc002cly.3	+	15	2185	c.1894A>T	c.(1894-1896)Act>Tct	p.T632S		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	632						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCTCGGGAGGACTCCCCAACC	0.682000														50			30		0	0	1	0	0
C9orf9	11092	broad.mit.edu	37	9	135759383	135759383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr9:135759383C>T	uc004cbz.1	+	1	198	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	C9orf9_uc004cbx.1_Missense_Mutation_p.L17F|C9orf9_uc004cby.1_Missense_Mutation_p.L17F	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.	17								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GAAGTACAAGCTCTTCCAGCA	0.547000														43			28		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259066	16259067	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr1:16259066_16259067delGA	uc001axk.1	+	10	6535_6536	c.6331_6332delGA	c.(6331-6333)gagfs	p.E2111fs	SPEN_uc010obp.1_Frame_Shift_Del_p.E2070fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2111					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACAGGCAGGGGAGAGGGAATCT	0.520													---	149	---	---	48	---					
GFM2	84340	broad.mit.edu	37	5	74032630	74032631	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr5:74032630_74032631insA	uc010izj.1	-	15	1922_1923	c.1596_1597insT	c.(1594-1599)tctaagfs	p.S532fs	GFM2_uc003kdh.1_Frame_Shift_Ins_p.S500fs|GFM2_uc003kdi.1_Frame_Shift_Ins_p.S453fs|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Frame_Shift_Ins_p.S500fs	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	500					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.C533C(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CCTGGCTGCTTAGACAGTGATG	0.381													---	70	---	---	43	---					
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	Frame_Shift_Del	DEL	C	-	-	rs11353848		TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr7:149518533delC	uc010lpk.3	+	87	12593	c.12593delC	c.(12592-12594)tccfs	p.S4198fs	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4201	TSP type-1 19.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711													---	4	---	---	3	---					
CNNM1	26507	broad.mit.edu	37	10	101120631	101120631	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:101120631delG	uc010qpi.2	+	2	2046	c.1757delG	c.(1756-1758)cggfs	p.R586fs	CNNM1_uc009xwe.3_Frame_Shift_Del_p.R586fs|CNNM1_uc001kpp.4_Frame_Shift_Del_p.R586fs|CNNM1_uc009xwf.3_Frame_Shift_Del_p.R586fs|CNNM1_uc009xwg.3_5'UTR	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	586					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAACGGGAGCGGAAGCGGCAT	0.527													---	31	---	---	50	---					
LOC619207	619207	broad.mit.edu	37	10	135273523	135273523	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr10:135273523delG	uc001lnh.1	+	3	2729	c.831delG	c.(829-831)ctgfs	p.L277fs	LOC619207_uc001lng.3_Non-coding_Transcript					Homo sapiens scavenger receptor protein family member (LOC619207), non-coding RNA.																		TGAGCGCCCTGGGGGCCGCAC	0.751													---	4	---	---	2	---					
OR56A1	120796	broad.mit.edu	37	11	6048297	6048297	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:6048297delA	uc010qzw.2	-	0	675	c.638delT	c.(637-639)ttgfs	p.L213fs		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGCCCAGCAAGGTCCAACC	0.483													---	22	---	---	43	---					
CUL5	8065	broad.mit.edu	37	11	107966294	107966300	+	Frame_Shift_Del	DEL	AGGTAAC	-	-			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:107966294_107966300delAGGTAAC	uc001pjv.3	+	15	2448_2454	c.1781_1787delAGGTAAC	c.(1780-1788)gaggtaaccfs	p.E594fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	594					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TATGATTTGGAGGTAACCACGTTTCAG	0.338													---	31	---	---	14	---					
SNX19	399979	broad.mit.edu	37	11	130785392	130785392	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr11:130785392delA	uc001qgk.4	-	0	991	c.443delT	c.(442-444)gtgfs	p.V148fs	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Frame_Shift_Del_p.V148fs|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	148	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACTGTCCATCACGCTCATCCT	0.542													---	9	---	---	28	---					
DICER1	23405	broad.mit.edu	37	14	95597909	95597914	+	In_Frame_Del	DEL	TGAGTA	-	-			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr14:95597909_95597914delTGAGTA	uc001ydw.2	-	4	582_587	c.370_375delTACTCA	c.(370-375)tactcadel	p.YS124del	DICER1_uc021sbc.1_In_Frame_Del_p.YS124del|DICER1_uc001ydv.2_In_Frame_Del_p.YS114del|DICER1_uc001ydx.2_In_Frame_Del_p.YS124del	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	124	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCTAGGTTTGAGTATTCCCCAACC	0.364			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				---	46	---	---	13	---					
HDGFRP2	84717	broad.mit.edu	37	19	4491823	4491824	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D3-A5GU-06A-11D-A27K-08	TCGA-D3-A5GU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	547743a7-1678-45a8-b744-42d628175cf1	74d1fe18-3d65-4c42-a56b-3d2c19d4cf75	g.chr19:4491823_4491824insA	uc002mao.3	+	5	762_763	c.669_670insA	c.(667-672)cggaaafs	p.R223fs	HDGFRP2_uc002map.3_Frame_Shift_Ins_p.R223fs|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	223	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TGGGGGGACGGAAAAAAAAGGT	0.634													---	82	---	---	34	---					
