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
GBP1	2633	broad.mit.edu	37	1	89523792	89523792	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:89523792G>A	uc001dmx.2	-	5	977	c.757C>T	c.(757-759)Cta>Tta	p.L253L		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	253					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCATCTTGTAGTTTCTCGAGC	0.448000														107			91		0	0	0.000147903	0	0
PCSK5	5125	broad.mit.edu	37	9	78547391	78547391	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:78547391G>A	uc004akc.2	+	1	827	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PCSK5_uc004ajy.2_Missense_Mutation_p.E97K|PCSK5_uc004ajz.3_Missense_Mutation_p.E97K|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.	97					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						CATTTCAATGGAACCAAAGGT	0.478000														30			25		0	0	9.22233e-05	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985592	34985592	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:34985592C>T	uc003ojx.4	+	10	1908	c.1766C>T	c.(1765-1767)tCt>tTt	p.S589F	ANKS1A_uc011dst.2_Missense_Mutation_p.S129F|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	589						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACACAGCATCTCCGCACCCT	0.627000														123			77		0	0	0.000147903	0	0
PCDH18	54510	broad.mit.edu	37	4	138451637	138451637	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:138451637C>T	uc003ihe.4	-	0	1993	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	PCDH18_uc003ihf.4_Missense_Mutation_p.E529K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E316K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	536	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CTCACTTCTTCATGATCAAAG	0.428000														73			47		0	0	0.000147903	0	0
HFE	3077	broad.mit.edu	37	6	26092986	26092986	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:26092986C>T	uc003nfx.1	+	3	850	c.690C>T	c.(688-690)taC>taT	p.Y230Y	HFE_uc003nfy.1_Silent_p.Y207Y|HFE_uc010jqe.1_Silent_p.Y227Y|HFE_uc003nfz.1_Silent_p.Y142Y|HFE_uc003ngd.1_Silent_p.Y128Y|HFE_uc003nga.1_Silent_p.Y216Y|HFE_uc003ngb.1_Silent_p.Y124Y|HFE_uc003ngc.1_Silent_p.Y138Y|HFE_uc003nge.1_Silent_p.Y50Y|HFE_uc003ngf.1_Intron	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	230	Alpha-3.|Ig-like C1-type.			Y -> H (in Ref. 7; AAG29342).	antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTGAACTACTACCCCCAGA	0.512000									Hemochromatosis					148			6		0	0	8.12818e-05	0	0
CCDC148	130940	broad.mit.edu	37	2	159035397	159035397	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:159035397C>T	uc002tzq.3	-	11	1796	c.1482G>A	c.(1480-1482)agG>agA	p.R494R	CCDC148_uc002tzr.3_Silent_p.R342R|CCDC148_uc010foh.3_Silent_p.R207R|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	494										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACACCTGTTTCCTAAGGGCTT	0.393000														42			28		0	0	0.000184323	0	0
SNAP91	9892	broad.mit.edu	37	6	84303449	84303449	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:84303449G>A	uc021zcf.1	-	16	1474	c.1444C>T	c.(1444-1446)Ccg>Tcg	p.P482S	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.P480S|SNAP91_uc011dze.2_Missense_Mutation_p.P480S|SNAP91_uc003pkc.3_Missense_Mutation_p.P480S|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P445S	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	482	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCTTCAGACGGGGCAAAGGGG	0.498000														38			26		0	0	0.000184323	0	0
BLM	641	broad.mit.edu	37	15	91333954	91333955	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:91333954_91333955CC>AA	uc002bpr.3	+	14	2996_2997	c.2899_2900CC>AA	c.(2899-2901)cct>AAt	p.P967N	BLM_uc010uqh.2_Missense_Mutation_p.P967N|BLM_uc010uqi.2_Missense_Mutation_p.P592N|BLM_uc010bnx.3_Missense_Mutation_p.P967N	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	967	Helicase C-terminal.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCATCTCTCCCTAAATCTGTG	0.421000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					565			16		0	0	6.4e-05	0	0
TXNRD1	7296	broad.mit.edu	37	12	104714898	104714899	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:104714898_104714899CG>AT	uc021rcx.1	+	9	1041_1042	c.1019_1020CG>AT	c.(1018-1020)ccg>cAT	p.P340H	TXNRD1_uc021rcy.1_Missense_Mutation_p.P242H|TXNRD1_uc021rcz.1_Missense_Mutation_p.P190H|TXNRD1_uc021rda.1_Missense_Mutation_p.P190H|TXNRD1_uc021rdb.1_Missense_Mutation_p.P190H|TXNRD1_uc010swp.2_Missense_Mutation_p.P152H|TXNRD1_uc010swq.2_Missense_Mutation_p.P240H|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.P256H	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	340					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.P190P(1)|p.P340P(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CCTTACTGCCCGGGTAAGACCC	0.401000														225			8		0	0	6.4e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	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					48			33		0	0	0.000159656	0	0
APOB	338	broad.mit.edu	37	2	21235400	21235401	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:21235400_21235401GG>TT	uc002red.3	-	25	4467_4468	c.4339_4340CC>AA	c.(4339-4341)cca>AAa	p.P1447K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1447					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)	TTTTGAGACTGGGTTGTTTCCA	0.381000														646			15		0	0	6.4e-05	0	0
PLCE1	51196	broad.mit.edu	37	10	96073071	96073071	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:96073071C>T	uc001kjk.3	+	27	6698	c.6064C>T	c.(6064-6066)Cca>Tca	p.P2022S	PLCE1_uc010qnx.2_Missense_Mutation_p.P2006S|PLCE1_uc001kjm.3_Missense_Mutation_p.P1714S|PLCE1_uc001kjp.3_Missense_Mutation_p.P380S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2022	Ras-associating 1.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATGGGGTCCCAGGGCCAGA	0.478000														6			55		0	0	0.000147903	0	0
FGA	2243	broad.mit.edu	37	4	155507077	155507077	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:155507077C>T	uc003iod.1	-	4	1562	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	FGA_uc003ioe.1_Missense_Mutation_p.G502S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	502					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTACCTATGCCAGACAATGTG	0.493000														57			42		0	0	0.000437636	0	0
MEP1A	4224	broad.mit.edu	37	6	46806764	46806764	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:46806764C>T	uc011dwh.1	+	12	2224	c.2216C>T	c.(2215-2217)gCc>gTc	p.A739V	MEP1A_uc010jzh.1_Missense_Mutation_p.A711V|MEP1A_uc011dwg.1_Missense_Mutation_p.A433V|MEP1A_uc011dwi.1_Missense_Mutation_p.A611V	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	711					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CGCTGTCAGGCCGTGCAGGTG	0.592000														238			47		0	0	0.000147903	0	0
OR2W5	441932	broad.mit.edu	37	1	247654438	247654438	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:247654438G>A	uc001icz.2	+	0	69	c.9G>A	c.(7-9)aaG>aaA	p.K3K		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTATGGGAAAGGACAATGCCA	0.453000														47			63		0	0	0.000147903	0	0
NPAS2	4862	broad.mit.edu	37	2	101609880	101609880	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:101609880C>T	uc010yvt.1	+	19	2380	c.2378C>T	c.(2377-2379)cCc>cTc	p.P793L	NPAS2_uc002tap.1_Missense_Mutation_p.P728L|NPAS2_uc010fit.1_Silent_p.A145A	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	728					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCCGATGCCCGTCCTGCTG	0.657000														16			7		0	0	8.12818e-05	0	0
KCNK1	3775	broad.mit.edu	37	1	233802615	233802615	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:233802615G>A	uc010pxo.1	+	1	798	c.630G>A	c.(628-630)tgG>tgA	p.W210*		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	210						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	AGGATGACTGGAACTTCCTGG	0.507000														45			71		0	0	0.000147903	0	0
CCT6B	10693	broad.mit.edu	37	17	33269603	33269603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:33269603G>A	uc002hig.3	-	6	901	c.785C>T	c.(784-786)gCt>gTt	p.A262V	CCT6B_uc010ctg.3_Missense_Mutation_p.A225V|CCT6B_uc010wcc.2_Missense_Mutation_p.A217V	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	262					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTTTCTTTCAGCTTTTACCAA	0.328000														13			15		0	0	0.000219431	0	0
CILP	8483	broad.mit.edu	37	15	65490487	65490487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:65490487C>T	uc002aon.2	-	8	2318	c.2137G>A	c.(2137-2139)Gat>Aat	p.D713N		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	713					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AATTTGAAATCACCTTCCTCC	0.493000														43			50		0	0	0.000147903	0	0
CXorf59	286464	broad.mit.edu	37	X	36091273	36091273	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chrX:36091273G>A	uc004ddk.1	+	3	394	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	70						integral to membrane		p.P69S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						AGTACTGCCTGAAAATTTGCA	0.348000														0			25		0	0	5.49717e-05	0	0
NRK	203447	broad.mit.edu	37	X	105167175	105167175	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chrX:105167175C>T	uc004emd.3	+	17	2979	c.2676C>T	c.(2674-2676)ggC>ggT	p.G892G	NRK_uc010npc.1_Silent_p.G560G	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	892							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATGGGTAGGCTATAATGCAC	0.423000										HNSCC(51;0.14)				8			67		0	0	0.000147903	0	0
CDK6	1021	broad.mit.edu	37	7	92355060	92355060	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:92355060G>A	uc011khw.2	-	3	829	c.417C>T	c.(415-417)caC>caT	p.H139H	CDK6_uc010lez.3_Silent_p.H139H	NM_001259	NP_001250	Q00534	CDK6_HUMAN	Homo sapiens cyclin-dependent kinase 6 (CDK6), transcript variant 1, mRNA.	139	Protein kinase.				G1 phase of mitotic cell cycle|cell dedifferentiation|cell division|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCACTACTCGGTGTGAATGAA	0.423000			T	MLLT10	ALL									78			92		0	0	0.000147903	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458955	120458956	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:120458955_120458956CC>AA	uc001eik.3	-	33	6686_6687	c.6389_6390GG>TT	c.(6388-6390)agg>aTT	p.R2130I		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2130					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTCTTCCTCCTACTACCCTT	0.505000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					562			13		0	0	6.4e-05	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709073	101709073	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:101709073C>T	uc003knn.3	-	12	2315	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	SLCO6A1_uc003kno.3_Missense_Mutation_p.E462K|SLCO6A1_uc003knp.3_Missense_Mutation_p.E715K|SLCO6A1_uc003knq.3_Missense_Mutation_p.E653K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	715						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCAGTTTCTTCTTTTTTCTTA	0.274000														62			36		0	0	0.000106405	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278231	29278231	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr13:29278231G>A	uc001usj.3	-	4	1692	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	SLC46A3_uc001usg.3_Silent_p.L309L|SLC46A3_uc001usi.3_Silent_p.L384L|SLC46A3_uc001ush.3_Silent_p.L384L	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	384					transmembrane transport	integral to membrane		p.L384M(3)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CAAGCAAACAGGGTACCTGTT	0.388000														60			54		0	0	0.000147903	0	0
MYH1	4619	broad.mit.edu	37	17	10411975	10411975	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:10411975G>A	uc002gmo.3	-	15	1696	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	534	Myosin head-like.					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						CCAGGATGGAGAAGATGCCCA	0.393000														46			41		0	0	0.000106405	0	0
FBN1	2200	broad.mit.edu	37	15	48780580	48780580	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:48780580C>T	uc001zwx.2	-	25	3588	c.3193G>A	c.(3193-3195)Gaa>Aaa	p.E1065K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1065	EGF-like 15; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTTCCTTTCTTCAGAATCA	0.473000														64			54		0	0	0.000147903	0	0
CHST12	55501	broad.mit.edu	37	7	2472823	2472823	+	Silent	SNP	C	T	T	rs150939856		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:2472823C>T	uc003smc.3	+	1	712	c.549C>T	c.(547-549)atC>atT	p.I183I	CHST12_uc003smd.3_Silent_p.I183I|CHST12_uc021zyu.1_Silent_p.I183I|CHST12_uc021zyv.1_Silent_p.I183I	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	183					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGTGATGATCGTGCTGAGCG	0.677000														27			26		0	0	0.000117367	0	0
MSI2	124540	broad.mit.edu	37	17	55752363	55752363	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:55752363C>T	uc002iuz.1	+	11	994	c.821C>T	c.(820-822)cCg>cTg	p.P274L	MSI2_uc010wnm.1_Missense_Mutation_p.P270L	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	274						cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGAGGCTTCCCGGGGGCCAAC	0.662000			T	HOXA9	CML									52			60		0	0	0.000147903	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800840	18800840	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:18800840G>A	uc001rdt.3	+	31	4332	c.4216G>A	c.(4216-4218)Gga>Aga	p.G1406R	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.G1447R|PIK3C2G_uc010sic.2_Missense_Mutation_p.G1225R	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1406	C2.				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)				AGAGCTCCAAGGACATGTCTT	0.338000														12			13		0	0	0.000308642	0	0
TDRD6	221400	broad.mit.edu	37	6	46660121	46660122	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:46660121_46660122CC>AA	uc003oyj.3	+	0	4510_4511	c.4256_4257CC>AA	c.(4255-4257)tcc>tAA	p.S1419*	TDRD6_uc010jze.3_Nonsense_Mutation_p.S1419*	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1419					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.C1418C(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			ATTCATTGCTCCTTGCAGGGAT	0.386000														302			9		0	0	6.4e-05	0	0
NEK5	341676	broad.mit.edu	37	13	52678636	52678636	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr13:52678636G>A	uc001vge.3	-	8	747	c.607C>T	c.(607-609)Cct>Tct	p.P203S		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	203	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATACTTACAGGATGTTTAAGT	0.318000														116			95		0	0	0.000147903	0	0
ABCD3	5825	broad.mit.edu	37	1	94964564	94964564	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:94964564C>T	uc010oto.2	+	19	1768	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	ABCD3_uc001dqn.4_Nonsense_Mutation_p.Q532*|ABCD3_uc010otp.2_Nonsense_Mutation_p.Q459*|ABCD3_uc009wdr.3_Nonsense_Mutation_p.Q422*|ABCD3_uc001dqo.4_Nonsense_Mutation_p.Q220*	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	532	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ACGAGAAGATCAGAAAAGGAA	0.348000														89			76		0	0	0.000147903	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130672310	130672310	+	Silent	SNP	G	A	A	rs138532276		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:130672310G>A	uc004bss.3	-	4	915	c.639C>T	c.(637-639)acC>acT	p.T213T	ST6GALNAC4_uc004bst.3_Silent_p.T129T	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	213					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TGAACCAGCCGGTGCTGAGGA	0.657000														23			19		0	0	0.000175454	0	0
RCAN1	1827	broad.mit.edu	37	21	35895913	35895913	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr21:35895913G>A	uc002yue.3	-	1	420	c.348C>T	c.(346-348)ccC>ccT	p.P116P	RCAN1_uc002yuc.3_Silent_p.P35P|RCAN1_uc002yud.3_5'UTR|RCAN1_uc002yub.3_Silent_p.P61P|RCAN1_uc011adx.1_Silent_p.P61P	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	116					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTGCGGAGAAGGGGTTGCTGA	0.438000														36			264		0	0	0.000147903	0	0
GPR20	2843	broad.mit.edu	37	8	142367088	142367088	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:142367088G>A	uc022bby.1	-	0	936	c.936C>T	c.(934-936)ttC>ttT	p.F312F	GPR20_uc003ywf.3_Silent_p.F312F	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	312						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGTGCTGGCCGAAGAGGCCTC	0.652000														44			30		0	0	0.000227799	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594849	64594850	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:64594849_64594850GG>AA	uc001obs.4	-	32	4171_4172	c.4171_4172CC>TT	c.(4171-4173)ccg>TTg	p.P1391L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1391					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GGTGAGGTCCGGGATGTCGAAC	0.634000														56			48		0	0	6.4e-05	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671403	112671403	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:112671403G>A	uc003pvx.1	+	2	805	c.493G>A	c.(493-495)Gag>Aag	p.E165K	RFPL4B_uc021zdy.1_Missense_Mutation_p.E165K	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	165	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CGTCTGCAAGGAGCCGGCTGA	0.552000														43			32		0	0	0.000339439	0	0
OR51A2	401667	broad.mit.edu	37	11	4976682	4976682	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:4976682G>A	uc010qyt.2	-	0	262	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTGAACAGGAAGATGCTT	0.468000														4			47		0	0	0.000147903	0	0
SDPR	8436	broad.mit.edu	37	2	192701377	192701377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:192701377C>T	uc002utb.3	-	1	905	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	184						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAAGCTCCTCCTTCCCTTCC	0.522000														22			17		0	0	7.07596e-05	0	0
KCNQ1	3784	broad.mit.edu	37	11	2869161	2869161	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:2869161C>T	uc001lwn.3	+	15	2067	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F	KCNQ1_uc001lwo.3_Silent_p.F526F	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	653					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CTGAGCTCTTCCTGCCCAGCA	0.736000														50			40		0	0	0.000106405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754153	140754153	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:140754153A>T	uc003ljy.2	+	0	503	c.503A>T	c.(502-504)cAg>cTg	p.Q168L	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_Missense_Mutation_p.Q168L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	168	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)			AACTCCCTTCAGGGATTTAAG	0.507000														16			17		0	0	5.01169e-05	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954490	35954490	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:35954490G>A	uc003jjv.2	-	6	1579	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	462						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)			CAGTCTGGAGGATGTGGTCGA	0.612000														15			14		0	0	0.000219431	0	0
BAHCC1	57597	broad.mit.edu	37	17	79412403	79412403	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:79412403G>A	uc002kaf.2	+	8	2673	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	BAHCC1_uc002kae.2_Silent_p.L152L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	953	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCAGCACCTGGATCTGGAGG	0.687000														4			8		0	0	2.17888e-05	0	0
SRF	6722	broad.mit.edu	37	6	43146579	43146580	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:43146579_43146580GG>TT	uc003oui.3	+	5	1865_1866	c.1390_1391GG>TT	c.(1390-1392)ggg>TTg	p.G464L	SRF_uc011dvf.2_Missense_Mutation_p.G260L	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	464					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCATCATCTGGGACAGTGCAG	0.490000														165			7		0	0	6.4e-05	0	0
PLIN4	729359	broad.mit.edu	37	19	4511544	4511545	+	Missense_Mutation	DNP	CC	TT	TT	rs71263980		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:4511544_4511545CC>TT	uc002mar.1	-	2	2385_2386	c.2385_2386GG>AA	c.(2383-2388)gtggcc>gtAAcc	p.A796T	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	796	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCCCCTTGGCCACATTCGCAG	0.614000														65			27		0	0	6.4e-05	0	0
PXK	54899	broad.mit.edu	37	3	58395340	58395340	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:58395340C>T	uc003djz.1	+	14	1489	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	PXK_uc003djx.1_Nonsense_Mutation_p.R464*|PXK_uc003dka.1_Nonsense_Mutation_p.R464*|PXK_uc003dkb.1_Nonsense_Mutation_p.R381*|PXK_uc003dkc.1_Nonsense_Mutation_p.R447*|PXK_uc011bfe.1_Nonsense_Mutation_p.R431*|PXK_uc010hnj.1_Nonsense_Mutation_p.R431*|PXK_uc003dkd.1_Nonsense_Mutation_p.R327*|PXK_uc010hnk.1_Nonsense_Mutation_p.R238*	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	464	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTAGCTCGAAAGGTAAG	0.418000														5			7		0	0	8.12818e-05	0	0
PZP	5858	broad.mit.edu	37	12	9322148	9322148	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:9322148G>A	uc001qvl.3	-	15	1908	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	PZP_uc009zgl.3_Missense_Mutation_p.P496S|PZP_uc010sgo.1_5'Flank|PZP_uc009zgm.1_5'UTR	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.P627S(2)|p.P496S(1)		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						ACATTGTCAGGAAAATTGGTG	0.418000														33			18		0	0	0.000229342	0	0
CHRNA3	1136	broad.mit.edu	37	15	78885454	78885454	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:78885454C>T	uc002beb.3	-	5	1970	c.1469G>A	c.(1468-1470)tGa>tAa	p.*490*	CHRNA3_uc002bea.3_Non-coding_Transcript|CHRNA5_uc002bdy.3_Silent_p.F422F|CHRNA3_uc010blg.2_Non-coding_Transcript	NM_001166694	NP_001160166	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 2, mRNA.	0					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATTGGAAATTCATAGCCCAGG	0.308000														73			56		0	0	0.000147903	0	0
ABCC8	6833	broad.mit.edu	37	11	17470088	17470088	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:17470088G>T	uc001mnc.3	-	7	1433	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	ABCC8_uc010rcy.1_Missense_Mutation_p.P435Q	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	436	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCAGAGGTTTGGGCACAAGAA	0.532000														329			10		2.17888e-05	0.000700785	2.17888e-05	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														35			5		0	0	1.23904e-05	0	0
TCRBV5S2	0	broad.mit.edu	37	7	142131446	142131446	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:142131446C>T	uc010lnz.1	-	1	353	c.309G>A	c.(307-309)ggG>ggA	p.G103G	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGCCGAGTCCCCCAGCAACA	0.517000														44			47		0	0	0.000147903	0	0
BMS1	9790	broad.mit.edu	37	10	43318651	43318651	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:43318651A>G	uc001jaj.3	+	19	3576	c.3218A>G	c.(3217-3219)aAa>aGa	p.K1073R		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	1073					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGATCAAGAAAGCACTCCGA	0.498000														54			4		0	0	1.23904e-05	0	0
HRNR	388697	broad.mit.edu	37	1	152191343	152191343	+	Missense_Mutation	SNP	C	T	T	rs142342392		TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:152191343C>T	uc001ezt.1	-	2	2838	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	921					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)			AGACCCATGTCGGCCACTGCT	0.627000														224			8		0	0	0.000229342	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467028	21467028	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:21467028C>T	uc003cce.3	-	5	1216	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	270						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						TCACAGATTTCACAGTGAAAT	0.433000														58			63		0	0	0.000147903	0	0
ZNF468	90333	broad.mit.edu	37	19	53344878	53344878	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:53344878G>A	uc002qaf.3	-	3	820	c.669C>T	c.(667-669)tcC>tcT	p.S223S	ZNF468_uc002qae.3_Silent_p.S170S|ZNF468_uc021uzb.1_Silent_p.S170S	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S223S(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGCAATTAAAGGATTTGAAGC	0.323000														36			36		0	0	0.000109025	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356816	104356816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:104356816G>A	uc004bbr.3	-	0	468	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	130	EF-hand 4.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	ACCAGCTGCTGGAGCTGCCAG	0.512000														32			26		0	0	7.16444e-05	0	0
OR6C1	390321	broad.mit.edu	37	12	55715321	55715321	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:55715321G>A	uc010spi.2	+	1	939	c.939_splice	c.e1+1	p.*313_splice		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAAGCACATGAAATGGTATG	0.403000														36			32		0	0	0.000227799	0	0
SLC16A7	9194	broad.mit.edu	37	12	60098690	60098690	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:60098690C>T	uc001sqs.3	+	2	407	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SLC16A7_uc001sqt.3_Silent_p.F36F|SLC16A7_uc001squ.3_Silent_p.F36F|SLC16A7_uc009zqi.3_5'UTR|SLC16A7_uc010ssi.2_5'UTR	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	36						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCTATGCATTCCCCAAAGCTG	0.448000														32			31		0	0	0.000339439	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501305	76501305	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:76501305G>A	uc002fex.1	+	8	1688	c.1549G>A	c.(1549-1551)Gga>Aga	p.G517R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G513R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G378R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G441R|CNTNAP4_uc002few.2_Missense_Mutation_p.G489R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	514	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G441*(1)|p.G489*(1)|p.G513*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGATTTCAGGGATGTATGAG	0.428000														32			23		0	0	0.000375601	0	0
CTSD	1509	broad.mit.edu	37	11	1774847	1774847	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:1774847G>A	uc001luc.2	-	8	1258	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	375					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGTGGCGGGATGTCCATGC	0.662000														22			30		0	0	0.000339439	0	0
C12orf43	64897	broad.mit.edu	37	12	121442834	121442834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:121442834G>A	uc009zxa.1	-	4	540	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	C12orf43_uc001tzh.1_Missense_Mutation_p.R142C|C12orf43_uc010szo.1_Missense_Mutation_p.R100C|C12orf43_uc010szp.1_Missense_Mutation_p.R131C|C12orf43_uc001tzi.1_Missense_Mutation_p.R142C	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	142								p.Q173E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGCTTTCGGCGGGGTTGGGGA	0.527000														156			131		0	0	0.000147903	0	0
SNTG1	54212	broad.mit.edu	37	8	51705237	51705237	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:51705237G>A	uc010lxy.1	+	19	1773	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	SNTG1_uc003xqs.1_Missense_Mutation_p.E468K|SNTG1_uc010lxz.1_Missense_Mutation_p.E431K|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	468					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGGAGTTGGAATTTTCTAA	0.318000														76			42		0	0	0.000147903	0	0
NCOR2	9612	broad.mit.edu	37	12	124911200	124911200	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:124911200C>A	uc021rga.1	-	10	1413	c.1296G>T	c.(1294-1296)tgG>tgT	p.W432C	NCOR2_uc021rgb.1_Missense_Mutation_p.W432C|NCOR2_uc010tbb.2_Missense_Mutation_p.W432C|NCOR2_uc010tbc.2_Missense_Mutation_p.W431C|NCOR2_uc021rgc.1_Missense_Mutation_p.W431C|NCOR2_uc010tba.2_Missense_Mutation_p.W432C|NCOR2_uc001ugj.1_Missense_Mutation_p.W432C|NCOR2_uc001ugk.1_Missense_Mutation_p.W432C	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	432	SANT 1.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTGCTCACTCCACATGTTCA	0.597000														16			19		4.35082e-09	1.40782e-07	0.000175454	1	0
PPIC	5480	broad.mit.edu	37	5	122361653	122361653	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:122361653G>A	uc003kth.3	-	3	441	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	112	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TCTCACCATAGATGCTCACAC	0.463000														16			12		0	0	6.40141e-05	0	0
KCNH7	90134	broad.mit.edu	37	2	163302839	163302839	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:163302839G>A	uc002uch.2	-	6	1472	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	KCNH7_uc002uci.3_Silent_p.L408L	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	415					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCAACAGCAGGATAAGCCAG	0.453000														38			20		0	0	0.000132079	0	0
OR1F1	4992	broad.mit.edu	37	16	3254585	3254585	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:3254585C>T	uc010uwu.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGACAATTTCCTCCTAGCTG	0.502000														91			75		0	0	0.000147903	0	0
LIX1	167410	broad.mit.edu	37	5	96443096	96443096	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:96443096C>T	uc003kmy.4	-	2	595	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	119										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGAACACTTTCCATAATGAAT	0.527000														51			51		0	0	0.000147903	0	0
WNK2	65268	broad.mit.edu	37	9	95993351	95993351	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:95993351G>A	uc004ati.1	+	2	1036	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	WNK2_uc011lud.1_Missense_Mutation_p.A346T|WNK2_uc004atj.3_Missense_Mutation_p.A346T|WNK2_uc010mrc.1_Missense_Mutation_p.A346T|WNK2_uc010mrd.1_5'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	346	Protein kinase.				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						CTTGGGCCTGGCCACTCTGAA	0.537000														87			70		0	0	0.000147903	0	0
MUC16	94025	broad.mit.edu	37	19	9065721	9065721	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:9065721G>A	uc002mkp.3	-	2	21929	c.21725C>T	c.(21724-21726)tCc>tTc	p.S7242F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7244	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						GCTCAGGGAGGAAATTGACTC	0.468000														88			66		0	0	0.000147903	0	0
UNC45A	55898	broad.mit.edu	37	15	91486257	91486258	+	Silent	DNP	CC	AA	AA	rs79580307	byFrequency	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:91486257_91486258CC>AA	uc002bqg.3	+	7	1312_1313	c.972_973CC>AA	c.(970-975)ccccgg>ccAAgg	p.324_325PR>PR	UNC45A_uc002bqd.3_Silent_p.309_310PR>PR	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	324					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAGCGGTGCCCCGGAAGTCTCT	0.530000														305			10		0	0	6.4e-05	0	0
ATRX	546	broad.mit.edu	37	X	76912109	76912109	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chrX:76912109C>T	uc004ecp.4	-	12	4387	c.4155G>A	c.(4153-4155)caG>caA	p.Q1385Q	ATRX_uc004ecq.4_Silent_p.Q1347Q|ATRX_uc004eco.4_Silent_p.Q1170Q|ATRX_uc004ecr.2_Silent_p.Q1317Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1385					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.F1384L(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCCTGATTCCTGAAAATCAG	0.279000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							3			44		0	0	0.000147903	0	0
AX747261	0	broad.mit.edu	37	9	99884092	99884092	+	RNA	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:99884092C>T	uc004aww.1	-	1		c.1702G>A								Homo sapiens cDNA FLJ34611 fis, clone KIDNE2014112.																		ATGAATAAGCCTGCGGCTGAT	0.562000														8			6		0	0	0.000157383	0	0
HRNR	388697	broad.mit.edu	37	1	152191328	152191328	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:152191328G>A	uc001ezt.1	-	2	2853	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	926					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)			AGACTGGCCTGAGCCAGACCC	0.607000														249			9		0	0	0.000295444	0	0
CNTN5	53942	broad.mit.edu	37	11	100169912	100169912	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:100169912C>T	uc001pga.3	+	19	2908	c.2404C>T	c.(2404-2406)Cag>Tag	p.Q802*	CNTN5_uc001pfz.3_Nonsense_Mutation_p.Q802*|CNTN5_uc021qpb.1_Nonsense_Mutation_p.Q802*|CNTN5_uc021qpc.1_Nonsense_Mutation_p.Q728*|CNTN5_uc010ruk.2_Nonsense_Mutation_p.Q73*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	802	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGAAGAGTTTCAGAATGGGGA	0.343000														16			14		0	0	0.000151284	0	0
LOC399753	399753	broad.mit.edu	37	10	49218498	49218498	+	Silent	SNP	A	G	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:49218498A>G	uc001jgd.3	-	7	1800	c.1641T>C	c.(1639-1641)tcT>tcC	p.S547S	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		GCTGGCCCAGAGACAGCTCAG	0.582000														3			3		0	0	3.59834e-05	0	0
ZADH2	284273	broad.mit.edu	37	18	72914190	72914190	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr18:72914190C>T	uc002llx.3	-	1	583	c.315G>A	c.(313-315)gtG>gtA	p.V105V	ZADH2_uc010dqv.3_5'UTR	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	105						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGCCTAGGGCCACCACCTCCC	0.527000														62			55		0	0	0.000147903	0	0
HRNR	388697	broad.mit.edu	37	1	152191323	152191323	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:152191323G>C	uc001ezt.1	-	2	2858	c.2782C>G	c.(2782-2784)Cag>Gag	p.Q928E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	928					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)			CCAGAAGACTGGCCTGAGCCA	0.607000														263			9		0	0	0.000295444	0	0
BMP2	650	broad.mit.edu	37	20	6759423	6759423	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr20:6759423A>C	uc002wmu.1	+	2	1663	c.878A>C	c.(877-879)aAg>aCg	p.K293T		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	293					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	AAACGCCTTAAGTCCAGCTGT	0.498000														30			14		0	0	0.000219431	0	0
DNAH5	1767	broad.mit.edu	37	5	13820543	13820543	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:13820543C>T	uc003jfd.2	-	40	6795	c.6753G>A	c.(6751-6753)acG>acA	p.T2251T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2251	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2251T(2)		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)					GCACTCTCTGCGTTTCGAATA	0.507000									Kartagener syndrome					26			19		0	0	9.7654e-05	0	0
PQLC1	80148	broad.mit.edu	37	18	77679243	77679243	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr18:77679243G>A	uc002lnl.2	-	4	721	c.549C>T	c.(547-549)gcC>gcT	p.A183A	PQLC1_uc010dre.2_Silent_p.A100A|PQLC1_uc002lnk.2_Silent_p.A165A|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	183	PQ-loop 2.					integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CACCCAGCATGGCTTCGGTCA	0.647000														17			19		0	0	0.000229342	0	0
MST1P9	11223	broad.mit.edu	37	1	17086000	17086001	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:17086000_17086001CC>TT	uc010ock.2	-	6	896_897	c.896_897GG>AA	c.(895-897)ggg>gAA	p.G299E	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CGCCCGCCCCCCCGCCCACCTC	0.653000														5			6		0	0	6.4e-05	0	0
HCN3	57657	broad.mit.edu	37	1	155255641	155255641	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:155255641G>C	uc001fjz.1	+	5	1371	c.1363G>C	c.(1363-1365)Gtg>Ctg	p.V455L	HCN3_uc010pfz.1_Missense_Mutation_p.V150L	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	455						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGGGATCTCGTGGTGCGTGA	0.652000														46			74		0	0	0.000147903	0	0
HYDIN	54768	broad.mit.edu	37	16	70926303	70926303	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:70926303C>T	uc002ezr.3	-	55	9526	c.9375G>A	c.(9373-9375)aaG>aaA	p.K3125K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3126										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)				TCTTCACTTCCTTTTTTGCAT	0.473000														87			29		0	0	8.91981e-05	0	0
OR8I2	120586	broad.mit.edu	37	11	55860936	55860936	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr11:55860936G>A	uc010rix.2	+	0	153	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TAATCAGAATGGATTCTCAGC	0.368000														87			69		0	0	0.000147903	0	0
PRAME	23532	broad.mit.edu	37	22	22890563	22890563	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr22:22890563G>A	uc002zwf.3	-	4	1612	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.P470S|PRAME_uc010gtr.3_Missense_Mutation_p.P486S|PRAME_uc002zwg.3_Missense_Mutation_p.P486S|PRAME_uc002zwh.3_Missense_Mutation_p.P486S|PRAME_uc002zwi.3_Missense_Mutation_p.P486S|PRAME_uc002zwj.3_Missense_Mutation_p.P486S|PRAME_uc002zwk.3_Missense_Mutation_p.P486S	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	486	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGAGGACAGGGGTTGGCACTA	0.572000														55			49		0	0	0.000147903	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														28			4		0	0	3.59834e-05	0	0
PCDH20	64881	broad.mit.edu	37	13	61985483	61985483	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr13:61985483C>T	uc001vid.4	-	1	3113	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PCDH20_uc010thj.2_Missense_Mutation_p.E917K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	890					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGATGCTTTTCCCCTTTCCTT	0.418000														19			18		0	0	9.7654e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12334004	12334005	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:12334004_12334005CG>AT	uc001rah.4	-	5	1487_1488	c.1345_1346CG>AT	c.(1345-1347)cgg>ATg	p.R449M	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R449M	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	449	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.R449R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACAATAGCCCGGGGTTCCTCT	0.421000														346			14		0	0	6.4e-05	0	0
CDH12	1010	broad.mit.edu	37	5	21842363	21842363	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:21842363C>T	uc010iuc.2	-	4	1179	c.721G>A	c.(721-723)Gat>Aat	p.D241N	CDH12_uc011cno.1_Missense_Mutation_p.D201N|CDH12_uc003jgk.2_Missense_Mutation_p.D241N	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTCCCATATCCTTGGCTTGG	0.413000										HNSCC(59;0.17)				54			42		0	0	0.000374591	0	0
YIPF7	285525	broad.mit.edu	37	4	44638040	44638040	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:44638040G>A	uc021xnx.1	-	2	268	c.251C>T	c.(250-252)tCg>tTg	p.S84L	YIPF7_uc010ify.2_Missense_Mutation_p.S84L	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA.	84						endoplasmic reticulum membrane|integral to membrane		p.S84S(2)		breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						TGCGTAACCCGATGACATGAG	0.408000														32			31		0	0	0.000339439	0	0
OTOL1	131149	broad.mit.edu	37	3	161214696	161214696	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:161214696A>C	uc011bpb.2	+	0	101	c.101A>C	c.(100-102)aAa>aCa	p.K34T		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	34						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTTACGAAGAAATCTGAGGAA	0.413000														20			12		0	0	6.40141e-05	0	0
STK36	27148	broad.mit.edu	37	2	219538675	219538675	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:219538675A>G	uc002viu.3	+	3	578	c.299A>G	c.(298-300)gAc>gGc	p.D100G	STK36_uc002viv.3_Missense_Mutation_p.D100G|RNF25_uc002vit.3_5'Flank|RNF25_uc010fvw.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	100	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTCCTGAAGACCAGGTATGC	0.502000														12			12		0	0	0.00010058	0	0
TEKT2	27285	broad.mit.edu	37	1	36550643	36550643	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:36550643G>A	uc001bzr.3	+	1	248	c.121G>A	c.(121-123)Gag>Aag	p.E41K	TEKT2_uc001bzs.3_5'UTR	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	41					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCCGCCAGGAGGCCCGGGT	0.617000														20			13		0	0	0.000308642	0	0
GPR115	221393	broad.mit.edu	37	6	47682279	47682279	+	Missense_Mutation	SNP	C	T	T	rs146828294	by1000genomes	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:47682279C>T	uc003oyz.1	+	6	1469	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	GPR115_uc003oza.1_Missense_Mutation_p.T433M|GPR115_uc003ozb.1_Missense_Mutation_p.T433M|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	433					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTGTGACGGAGATATCA	0.478000														171			50		0	0	0.000147903	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745056	33745056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:33745056C>T	uc002rox.3	+	5	838	c.211C>T	c.(211-213)Cga>Tga	p.R71*	RASGRP3_uc010ync.2_Nonsense_Mutation_p.R71*|RASGRP3_uc002roy.3_Nonsense_Mutation_p.R71*	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	71	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CAATGAATTTCGATTAAAGAT	0.383000														13			15		0	0	0.000175454	0	0
KIF21A	55605	broad.mit.edu	37	12	39760883	39760883	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:39760883G>A	uc001rly.3	-	4	1104	c.684C>T	c.(682-684)gcC>gcT	p.A228A	KIF21A_uc001rlx.3_Silent_p.A228A|KIF21A_uc001rlz.3_Silent_p.A228A|KIF21A_uc010skl.2_Silent_p.A228A	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	228	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGGTAAAAATGGCATGTGAAC	0.393000														23			19		0	0	0.000132079	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618106	77618106	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:77618106C>T	uc003yau.2	+	1	2170	c.1783C>T	c.(1783-1785)Ccg>Tcg	p.P595S	ZFHX4_uc003yat.1_Missense_Mutation_p.P595S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P595S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	595						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T594S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGCTTTACCCCGAGTACTCC	0.587000										HNSCC(33;0.089)				25			25		0	0	7.16444e-05	0	0
INTS8	55656	broad.mit.edu	37	8	95862267	95862268	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:95862267_95862268CC>AA	uc003yhb.3	+	11	1581_1582	c.1455_1456CC>AA	c.(1453-1458)tcccct>tcAAct	p.P486T	INTS8_uc003yha.1_Missense_Mutation_p.P486T|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P313T	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	486					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGAAGAGATCCCCTAGAGTAAA	0.391000														464			14		0	0	6.4e-05	0	0
SRRM4	84530	broad.mit.edu	37	12	119568628	119568628	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:119568628G>A	uc001txa.2	+	7	1148	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	254	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTACCTGTCAGCCAGGGGTGT	0.607000														11			4		0	0	1.23904e-05	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891002	32891002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:32891002C>T	uc002edh.1	-	2	228	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		GTGCCACTGGCTGAGTAGTAG	0.622000														19			20		0	0	0.000229342	0	0
TPTE	7179	broad.mit.edu	37	21	10996106	10996106	+	RNA	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr21:10996106C>T	uc002yis.1	-	11		c.2080G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGCCCAGTTCGACTTCTTTG	0.413000														51			15		0	0	0.000175454	0	0
TTN	7273	broad.mit.edu	37	2	179644801	179644801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:179644801C>T	uc021vsy.1	-	21	3880	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	TTN_uc021vsz.1_Missense_Mutation_p.E1173K|TTN_uc021vta.1_Missense_Mutation_p.E1173K|TTN_uc021vtb.1_Missense_Mutation_p.E1173K|TTN_uc002unb.2_Missense_Mutation_p.E1219K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1219							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K1218N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTtctttttcatactctttt	0.358000														53			43		0	0	0.000374591	0	0
TRIM26	7726	broad.mit.edu	37	6	30156976	30156976	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:30156976C>T	uc003npr.3	-	8	1114	c.905_splice	c.e8-1	p.G302_splice	TRIM26_uc003nps.3_Splice_Site_p.G302_splice|TRIM26_uc003npt.3_Splice_Site_p.G302_splice|TRIM26_uc010jry.3_Missense_Mutation_p.G32E	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	302	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CAGCAGCTTCCCTGGGGAGAA	0.443000														118			37		0	0	0.000191422	0	0
DPP10	57628	broad.mit.edu	37	2	116510813	116510813	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:116510813C>T	uc002tle.3	+	10	1047	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	DPP10_uc002tla.2_Silent_p.N338N|DPP10_uc002tlb.2_Silent_p.N288N|DPP10_uc002tlc.2_Silent_p.N334N|DPP10_uc002tlf.2_Silent_p.N331N	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	338					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GATGGTTAAACCGAGCTCAGA	0.348000														29			26		0	0	9.22233e-05	0	0
AK309896	0	broad.mit.edu	37	9	66513864	66513864	+	RNA	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr9:66513864C>T	uc010mnh.1	-	5		c.884G>A								Homo sapiens cDNA FLJ20444 fis, clone KAT05128.																		TGACCTGCTCCTGCGGAAGGA	0.502000														83			17		0	0	7.16444e-05	0	0
CES2	8824	broad.mit.edu	37	16	66974501	66974501	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:66974501C>T	uc002eqr.3	+	4	1911	c.911C>T	c.(910-912)tCc>tTc	p.S304F	CES2_uc002eqq.3_Missense_Mutation_p.S304F|CES2_uc002eqs.3_Missense_Mutation_p.S147F	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	240					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CTTGTTGTGTCCCCCATATCC	0.592000														34			36		0	0	0.000191422	0	0
ACSM1	116285	broad.mit.edu	37	16	20681305	20681305	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:20681305C>T	uc002dhm.1	-	4	824	c.756G>A	c.(754-756)agG>agA	p.R252R	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.R252R	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	252					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCGTAATTTCCTACTAACTC	0.512000														11			9		0	0	3.86212e-05	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488878	20488878	+	RNA	SNP	G	C	C			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:20488878G>C	uc001ytf.1	+	1		c.361G>C								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		CCGTGCTGTGGACTGCTGGAG	0.443000														64			6		0	0	2.17888e-05	0	0
MCM4	4173	broad.mit.edu	37	8	48883186	48883186	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:48883186C>T	uc003xqk.2	+	11	2376	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	MCM4_uc003xql.2_Missense_Mutation_p.S517F|MCM4_uc011ldi.2_Missense_Mutation_p.S504F	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	517	MCM.				DNA strand elongation involved in DNA replication|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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACCAGCAAGTCCCAGCTGCTG	0.557000														21			21		0	0	0.000295444	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461467	138461468	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:138461467_138461468GG>TT	uc011bmq.2	-	2	553_554	c.553_554CC>AA	c.(553-555)cct>AAt	p.P185N		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	185	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAAGTTTTCAGGGATGGATGGT	0.376000														518			22		0	0	6.4e-05	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917159	42917159	+	Silent	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:42917159C>T	uc003cmh.3	-	0	475	c.150G>A	c.(148-150)cgG>cgA	p.R50R	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	50					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		ACATATTCTTCCGGAAAGCCA	0.582000														35			13		0	0	0.000308642	0	0
AX747417	0	broad.mit.edu	37	3	95374381	95374381	+	RNA	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:95374381C>T	uc003dro.1	-	4		c.1481G>A								Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR.																		GTCCTACATTCATTACAGGAA	0.463000														20			25		0	0	0.000117367	0	0
RFX6	222546	broad.mit.edu	37	6	117248601	117248601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:117248601C>T	uc003pxm.3	+	16	2360	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	766					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCCAGGATTCACACAATATG	0.502000														29			25		0	0	5.49717e-05	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691221	121691222	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:121691221_121691222CC>AA	uc001tzv.3	-	9	1790_1791	c.961_962GG>TT	c.(961-963)gga>TTa	p.G321L	CAMKK2_uc001tzt.3_Missense_Mutation_p.G321L|CAMKK2_uc001tzu.3_Missense_Mutation_p.G321L|CAMKK2_uc001tzw.3_Missense_Mutation_p.G321L|CAMKK2_uc001tzx.3_Missense_Mutation_p.G321L|CAMKK2_uc001tzy.3_Missense_Mutation_p.G321L|CAMKK2_uc001tzz.1_Missense_Mutation_p.G108L|CAMKK2_uc001uaa.1_Missense_Mutation_p.G321L|CAMKK2_uc001uab.3_Missense_Mutation_p.G321L|CAMKK2_uc001uac.3_Missense_Mutation_p.G321L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	321	Protein kinase.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCATCTTCTCCGACCAGGAGG	0.559000														422			12		0	0	6.4e-05	0	0
HMGB4	127540	broad.mit.edu	37	1	34330054	34330054	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:34330054C>G	uc021oky.1	+	0	262	c.262C>G	c.(262-264)Cgg>Ggg	p.R88G	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R88G|HMGB4_uc001bxq.3_Missense_Mutation_p.R14G	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	88						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACGGAGAAAGCGGGATCCCCA	0.517000														62			24		0	0	0.000117367	0	0
CALB1	793	broad.mit.edu	37	8	91081382	91081382	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr8:91081382C>T	uc003yel.1	-	4	497	c.315_splice	c.e4+1	p.K105_splice	CALB1_uc011lge.1_Splice_Site_p.K48_splice	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	105	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTTCTTATACCTTCATGAATT	0.378000														39			29		0	0	0.000279167	0	0
EVPL	2125	broad.mit.edu	37	17	74004305	74004306	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:74004305_74004306CC>TT	uc010wss.1	-	21	5274_5275	c.5046_5047GG>AA	c.(5044-5049)cgggac>cgAAac	p.D1683N	EVPL_uc002jqi.2_Missense_Mutation_p.D1661N|EVPL_uc010wst.1_Missense_Mutation_p.D1131N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1661	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTGGAGGTCCCGGAGCGTCC	0.668000														27			23		0	0	6.4e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120497802	120497803	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr1:120497802_120497803CC>AA	uc001eik.3	-	12	2376_2377	c.2079_2080GG>TT	c.(2077-2082)aagggt>aaTTgt	p.693_694KG>NC	NOTCH2_uc001eil.3_Missense_Mutation_p.693_694KG>NC|NOTCH2_uc021osy.1_Missense_Mutation_p.654_655KG>NC|NOTCH2_uc001eim.4_Missense_Mutation_p.610_611KG>NC	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	693	EGF-like 18; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGTTGCACCCTTGCGACAGG	0.510000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					538			15		0	0	6.4e-05	0	0
CDHR2	54825	broad.mit.edu	37	5	176016402	176016402	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:176016402C>T	uc021yie.1	+	22	3354	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CDHR2_uc003mem.2_Missense_Mutation_p.S1027F|CDHR2_uc003men.1_Missense_Mutation_p.S1027F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1027	Cadherin 9.				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						GACAGACCTTCCTTGGGTCCT	0.662000														54			36		0	0	0.000159656	0	0
CXXC11	285093	broad.mit.edu	37	2	242814522	242814522	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:242814522G>A	uc010fzu.1	+	1	838	c.815G>A	c.(814-816)gGc>gAc	p.G272D		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	272						integral to membrane											CTCTTCCACGGCCCCGGCCTC	0.672000														41			15		0	0	7.07596e-05	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997096	82997096	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr7:82997096C>T	uc003uhy.2	-	16	2755	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	SEMA3E_uc022agy.1_Missense_Mutation_p.E652K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	712					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGCAAGAATTCCTTGTACCAT	0.458000														62			43		0	0	0.000437636	0	0
DNAH9	1770	broad.mit.edu	37	17	11511573	11511573	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:11511573G>A	uc002gne.3	+	1	613	c.545G>A	c.(544-546)gGa>gAa	p.G182E	DNAH9_uc002gnd.1_Missense_Mutation_p.G182E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	182	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)		CAAGTGAAGGGAAAAACTTTG	0.507000														90			70		0	0	0.000147903	0	0
CTDSP1	58190	broad.mit.edu	37	2	219266858	219266858	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:219266858C>T	uc002vhy.3	+	2	577	c.241C>T	c.(241-243)Cct>Tct	p.P81S	CTDSP1_uc021vwv.1_Missense_Mutation_p.P80S|CTDSP1_uc002vhx.3_Missense_Mutation_p.P80S|CTDSP1_uc002vhz.3_5'UTR|MIR26B_uc010zkd.2_5'Flank	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 (CTDSP1), transcript variant 1, mRNA.	81					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATACCTGCTCCCTGAGGCCAA	0.652000														13			11		0	0	0.000308642	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746418	121746419	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:121746418_121746419CC>AA	uc001uag.3	-	16	2254_2255	c.2132_2133GG>TT	c.(2131-2133)agg>aTT	p.R711I	ANAPC5_uc010szu.2_Missense_Mutation_p.R377I|ANAPC5_uc001uae.3_Missense_Mutation_p.R275I|ANAPC5_uc010szv.2_Missense_Mutation_p.R313I|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.R599I	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	711					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)					AAACGACGTCCCTGATGCGCTC	0.540000														480			13		0	0	6.4e-05	0	0
CC2D2B	387707	broad.mit.edu	37	10	97775979	97775979	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr10:97775979G>A	uc010qop.2	+	6	662	c.430G>A	c.(430-432)Gga>Aga	p.G144R	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.G144R	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	144								p.I143I(1)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TTTAGCTATCGGAAATAAGGA	0.418000														4			24		0	0	7.16444e-05	0	0
LMAN1L	79748	broad.mit.edu	37	15	75111605	75111605	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr15:75111605C>T	uc002ayt.1	+	5	712	c.710C>T	c.(709-711)aCc>aTc	p.T237I	LMAN1L_uc010bkd.2_Missense_Mutation_p.T165I|LMAN1L_uc010ulo.1_Missense_Mutation_p.T129I|LMAN1L_uc010bke.1_Missense_Mutation_p.T237I	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	237	L-type lectin-like.					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						GCCACCGGCACCCTGGCAGGT	0.577000														45			41		0	0	8.96297e-05	0	0
MORC1	27136	broad.mit.edu	37	3	108813812	108813812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:108813812G>A	uc003dxl.3	-	6	614	c.527C>T	c.(526-528)cCa>cTa	p.P176L	MORC1_uc011bhn.2_Missense_Mutation_p.P176L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	176					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.S175F(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGTTTTAAATGGGGAGTATTT	0.343000														26			21		0	0	0.000175454	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882210	7882210	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:7882210C>T	uc001qtg.1	-	5	798	c.624G>A	c.(622-624)atG>atA	p.M208I	CLEC4C_uc001qth.1_Missense_Mutation_p.M208I|CLEC4C_uc001qti.1_Missense_Mutation_p.M177I	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	208					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGATCTTCTTCATCTTGCAAA	0.363000														33			25		0	0	7.16444e-05	0	0
LY86	9450	broad.mit.edu	37	6	6589096	6589096	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:6589096G>A	uc003mwy.1	+	0	163	c.129G>A	c.(127-129)caG>caA	p.Q43Q	LY86-AS1_uc003mww.4_Intron|LY86-AS1_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	Homo sapiens lymphocyte antigen 86 (LY86), mRNA.	43					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TGCTCTACCAGAGTTGCGGTA	0.582000														65			16		0	0	5.01169e-05	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4412724	4412724	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:4412724G>A	uc002cwf.3	-	14	1734	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.P211S|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.P431S|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.P413S|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.P346S|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.P211S|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Missense_Mutation_p.P211S	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GAACTGGGAGGGGAAGAGAAA	0.667000														6			5		0	0	1.23904e-05	0	0
CCR4	1233	broad.mit.edu	37	3	32995259	32995259	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr3:32995259G>A	uc003cfg.1	+	1	513	c.345G>A	c.(343-345)tgG>tgA	p.W115*	CCR4_uc021wuw.1_Nonsense_Mutation_p.W115*	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	115					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGATTTCCTGGATGTACTTGG	0.483000														124			117		0	0	0.000147903	0	0
AP1G1	164	broad.mit.edu	37	16	71768553	71768554	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr16:71768553_71768554CC>AA	uc010cgg.3	-	21	2639_2640	c.2325_2326GG>TT	c.(2323-2328)acgggg>acTTgg	p.G776W	AP1G1_uc021tkz.1_Missense_Mutation_p.G564W|AP1G1_uc002fbb.3_Missense_Mutation_p.G799W|AP1G1_uc002faz.3_Missense_Mutation_p.G193W|AP1G1_uc021tky.1_Missense_Mutation_p.G779W	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	776	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	p.T775T(4)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GTGATGGTCCCCGTGTTAAATG	0.450000														274			11		0	0	6.4e-05	0	0
VN1R2	317701	broad.mit.edu	37	19	53761927	53761927	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:53761927G>A	uc002qbi.2	+	0	383	c.299G>A	c.(298-300)gGa>gAa	p.G100E		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	100					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTAGTTGTTGGAATCCTGGGG	0.428000														19			10		0	0	2.17888e-05	0	0
TMEM87B	84910	broad.mit.edu	37	2	112863616	112863616	+	Silent	SNP	C	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:112863616C>A	uc002thm.2	+	15	1857	c.1488C>A	c.(1486-1488)tcC>tcA	p.S496S		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	496						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						AATCAGTTTCCAATGGAACAG	0.313000														294			10		0.000219431	0.00697348	0.000219431	1	0
MAK	4117	broad.mit.edu	37	6	10809131	10809132	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr6:10809131_10809132CC>AA	uc021ylk.1	-	5	684_685	c.402_403GG>TT	c.(400-405)atgggt>atTTgt	p.134_135MG>IC	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.134_135MG>IC|MAK_uc021yll.1_Missense_Mutation_p.134_135MG>IC|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	134	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGCTCTGGACCCATACAAAGCA	0.371000														311			8		0	0	6.4e-05	0	0
PDE6B	5158	broad.mit.edu	37	4	647869	647869	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr4:647869G>A	uc003gap.3	+	5	906	c.853_splice	c.e5-1	p.E285_splice	PDE6B_uc003gao.4_Splice_Site_p.E285_splice|PDE6B_uc011buy.2_Splice_Site_p.E6_splice|PDE6B_uc010ibg.2_Splice_Site_p.E6_splice|BC020343_uc003gaq.1_Non-coding_Transcript	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	285	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTCTGCCCAGGAATTTTTTGA	0.662000														29			23		0	0	0.000117367	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657755	46657755	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr22:46657755C>T	uc003bhh.3	-	0	1465	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		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.	489	REJ.				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)		TTATAGAAATCACGGCTTGCA	0.378000														114			94		0	0	0.000147903	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994245	56994245	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr12:56994245G>A	uc001slq.1	-	23	4832	c.4638C>T	c.(4636-4638)acC>acT	p.T1546T	BAZ2A_uc001slp.1_Silent_p.T1544T|BAZ2A_uc001slo.1_Silent_p.T352T|BAZ2A_uc009zov.1_Silent_p.T512T|BAZ2A_uc009zow.1_Silent_p.T1514T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1546					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTCTTCACGGGTAGAGTCTG	0.498000														48			35		0	0	0.000191422	0	0
LRP2	4036	broad.mit.edu	37	2	170002377	170002377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:170002377C>T	uc002ues.3	-	69	13081	c.12868G>A	c.(12868-12870)Gaa>Aaa	p.E4290K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4290					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTCCCTTTTCCTTAGATATC	0.398000														24			20		0	0	9.7654e-05	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215867	21215867	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr14:21215867G>A	uc021rom.1	+	0	128	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	EDDM3A_uc001vyc.3_Missense_Mutation_p.R43Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	43					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGTCCAAGTCGAGAATTCAAA	0.373000														4			41		0	0	0.000374591	0	0
APOB	338	broad.mit.edu	37	2	21227542	21227543	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:21227542_21227543CC>AA	uc002red.3	-	26	11921_11922	c.11793_11794GG>TT	c.(11791-11796)ttggga>ttTTga	p.3931_3932LG>F*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3931					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)	TTGTGTGTTCCCAAAACTGTAT	0.361000														485			12		0	0	6.4e-05	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122526	17122526	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr19:17122526C>T	uc002nfb.3	-	3	482	c.450G>A	c.(448-450)tgG>tgA	p.W150*		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	103						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCGCGGCCCCACACTTTCA	0.637000														19			19		0	0	9.7654e-05	0	0
RNF43	54894	broad.mit.edu	37	17	56440957	56440957	+	Missense_Mutation	SNP	C	T	T	rs35219874	byFrequency	TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr17:56440957C>T	uc002iwf.3	-	2	2336	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	RNF43_uc010wnv.2_Missense_Mutation_p.R86Q|RNF43_uc002iwh.4_Missense_Mutation_p.R127Q|RNF43_uc002iwg.4_Missense_Mutation_p.R127Q|RNF43_uc010dcw.3_5'UTR	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	127						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.R127P(2)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCCGCCATCCGAGCCTGCAG	0.592000														24			25		0	0	5.49717e-05	0	0
GTDC1	79712	broad.mit.edu	37	2	144710388	144710388	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr2:144710388A>G	uc002tvp.3	-	9	1432	c.1153T>C	c.(1153-1155)Tgt>Cgt	p.C385R	GTDC1_uc002tvo.3_Silent_p.G336G|GTDC1_uc021vqf.1_Missense_Mutation_p.C300R|GTDC1_uc010fnn.3_Missense_Mutation_p.C385R|GTDC1_uc002tvs.3_Missense_Mutation_p.C353R|GTDC1_uc021vqg.1_Missense_Mutation_p.C267R|GTDC1_uc002tvr.3_Missense_Mutation_p.C300R|GTDC1_uc010fno.3_Missense_Mutation_p.C256R	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	385					biosynthetic process		transferase activity, transferring glycosyl groups	p.G384W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AGTGGGTAACACCCACAGTAC	0.333000														90			70		0	0	0.000147903	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589664	67589664	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:67589664T>G	uc003jva.3	+	11	2005	c.1425_splice	c.e11+2	p.Q475_splice	PIK3R1_uc003jvc.3_Splice_Site_p.Q175_splice|PIK3R1_uc003jvd.3_Splice_Site_p.Q205_splice|PIK3R1_uc003jve.3_Splice_Site_p.Q154_splice|PIK3R1_uc021xzn.1_Splice_Site_p.Q112_splice|PIK3R1_uc011crb.2_Splice_Site_p.Q145_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	475					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACATCCCAGGTGAGTTTTCTA	0.294000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				43			23		0	0	5.49717e-05	0	0
AGXT2L2	85007	broad.mit.edu	37	5	177649539	177649539	+	Silent	SNP	G	A	A			TCGA-FS-A1ZN-01A-11D-A197-08	TCGA-FS-A1ZN-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53bb4480-3c66-4998-bdba-a871ee0c1cd1	a9fd2e01-fa09-4103-b371-1da126c46528	g.chr5:177649539G>A	uc003miz.3	-	7	996	c.744C>T	c.(742-744)atC>atT	p.I248I	AGXT2L2_uc003miy.3_Intron|AGXT2L2_uc003mjc.3_Silent_p.I207I|AGXT2L2_uc003mjb.3_Intron|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Silent_p.I106I	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	248						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGCCAACCTGGATCTCATCTG	0.577000														49			32		0	0	0.000159656	0	0