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
ITLN1	55600	broad.mit.edu	37	1	160850433	160850433	+	Silent	SNP	G	A	A	rs140203242		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:160850433G>A	uc001fxc.3	-	5	746	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	210	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAAAATCATAGACCACAGGGA	0.443000														156			89		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56183135	56183135	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:56183135C>T	uc021wzo.1	-	3	1315	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	ERC2_uc003dhr.1_Missense_Mutation_p.R392Q	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	392						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTATGTTTCGTTCCAATGA	0.333000														16			6		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233934	43233934	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:43233934G>A	uc002oue.3	-	3	1116	c.984C>T	c.(982-984)gtC>gtT	p.V328V	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	328					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ACTCACAGAGGACATTCAGGG	0.488000														64			52		0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19197496	19197496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:19197496C>T	uc001mpi.3	+	16	1963	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	ZDHHC13_uc001mpj.3_Missense_Mutation_p.R490C	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	620					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGGTTCTTCGCTCAGTATG	0.423000														96			42		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31198144	31198144	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:31198144C>T	uc002ebf.3	+	6	891	c.786C>T	c.(784-786)ttC>ttT	p.F262F	FUS_uc002ebe.2_Silent_p.F258F|FUS_uc002ebg.3_Intron|FUS_uc002ebh.3_Silent_p.F261F|FUS_uc002ebk.1_Non-coding_Transcript|FUS_uc010caj.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	262	Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GTGGTGGCTTCAATAAATTTG	0.388000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									26			28		0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232660830	232660830	+	Silent	SNP	C	T	T	rs144978316	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:232660830C>T	uc002vsh.1	+	4	445	c.342C>T	c.(340-342)tcC>tcT	p.S114S	COPS7B_uc010fxy.1_Silent_p.S80S|COPS7B_uc002vsg.1_Silent_p.S114S|COPS7B_uc002vsi.1_Silent_p.S7S|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Silent_p.S7S			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	114	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCCCCTACTCCGTGTTGCTGA	0.478000														26			19		0	0	1	0	0
YDJC	150223	broad.mit.edu	37	22	21984272	21984272	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:21984272G>A	uc002zvb.2	-	0	69	c.32C>T	c.(31-33)aCc>aTc	p.T11I	YDJC_uc002zvc.2_Non-coding_Transcript|YDJC_uc002zvd.2_Missense_Mutation_p.T11I|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.3_5'Flank	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN	Homo sapiens YdjC homolog (bacterial) (YDJC), mRNA.	11					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					GTCGTCCGCGGTGACCACCAG	0.721000														36			3		0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67069777	67069777	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:67069777C>T	uc001okd.2	+	14	1962	c.1792C>T	c.(1792-1794)Ctg>Ttg	p.L598L	ANKRD13D_uc001okc.2_Silent_p.L511L|ANKRD13D_uc001oke.2_Silent_p.L511L|ANKRD13D_uc001okg.2_Silent_p.L294L|ANKRD13D_uc001okh.2_Silent_p.L294L|ANKRD13D_uc001oki.2_Silent_p.L248L|SSH3_uc001okj.3_5'Flank|SSH3_uc001okk.3_5'Flank|SSH3_uc001okl.3_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA.	511										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			ACAGCGGATCCTGCAGCTGTC	0.597000														3			3		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112015735	112015735	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:112015735T>C	uc004bdz.1	-	11	1560	c.1265A>G	c.(1264-1266)cAt>cGt	p.H422R	EPB41L4B_uc004bea.3_Missense_Mutation_p.H422R	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	422						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAACGTTGAATGTCTCCGGGA	0.448000														13			50		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057777	56057777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:56057777C>T	uc010rje.2	-	0	762	c.762G>A	c.(760-762)atG>atA	p.M254I		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T253N(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAGTAAAAATCATAGTTCCAT	0.368000														38			25		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44576027	44576027	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:44576027C>T	uc003tlb.3	-	4	1738	c.1682_splice	c.e4-1	p.G561_splice	NPC1L1_uc011kbw.2_Splice_Site_p.G561_splice|NPC1L1_uc003tlc.3_Splice_Site_p.G561_splice|NPC1L1_uc003tld.3_Splice_Site_p.G561_splice	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	561					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATAGTCCTTTCCTGGGATAAG	0.602000														81			18		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588124	113588124	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:113588124C>T	uc002tii.1	-	6	711	c.624G>A	c.(622-624)aaG>aaA	p.K208K	IL1B_uc002tih.1_Silent_p.K177K	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	208					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CCATCTTCTTCTTTGGGTAAT	0.418000														64			45		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133783826	133783826	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:133783826G>A	uc011ecs.2	+	8	964	c.648G>A	c.(646-648)caG>caA	p.Q216Q	EYA4_uc011ecq.2_Silent_p.Q162Q|EYA4_uc011ecr.2_Silent_p.Q162Q|EYA4_uc003qec.4_Silent_p.Q216Q|EYA4_uc003qed.4_Silent_p.Q216Q|EYA4_uc003qee.4_Silent_p.Q193Q|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	216					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCCCATTACAGAGTGGCTGCC	0.463000														50			9		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217315660	217315660	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:217315660C>T	uc002vgc.4	+	11	2273	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	SMARCAL1_uc002vgd.4_Missense_Mutation_p.S648F|SMARCAL1_uc010fvg.3_Missense_Mutation_p.S626F	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	648					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CGCCTCAAGTCCGACGTCCTT	0.612000									Schimke Immuno-Osseous Dysplasia					55			39		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9781283	9781283	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:9781283C>T	uc001aqe.4	+	12	2068	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	PIK3CD_uc001aqb.4_Silent_p.A596A|PIK3CD_uc010oaf.2_Silent_p.A595A|PIK3CD_uc021ogb.1_Silent_p.A380A	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	596					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCCTTCGCCATCAAGTCGC	0.647000														36			50		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254649	219254649	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:219254649C>T	uc002vhv.3	+	8	1192	c.852C>T	c.(850-852)ttC>ttT	p.F284F	SLC11A1_uc010fvp.1_Silent_p.F284F|SLC11A1_uc010fvq.1_Silent_p.F217F|SLC11A1_uc010zkc.1_Silent_p.F217F|SLC11A1_uc002vhu.1_Silent_p.F79F|SLC11A1_uc002vhw.3_Silent_p.F166F|SLC11A1_uc010fvr.3_Silent_p.F79F	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	284					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGTACTTCCTGATTGAGG	0.537000														29			20		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020238	55020238	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:55020238T>C	uc002lgn.3	+	0	518	c.161T>C	c.(160-162)aTg>aCg	p.M54T		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	54					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGAATGTACATGTTCCACGCG	0.592000														51			37		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74574143	74574143	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:74574143G>A	uc002axo.3	+	9	1442	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	CCDC33_uc002axp.3_Missense_Mutation_p.D172N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	553							protein binding	p.D350N(2)|p.D553N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AACTATCAATGATGAGGCCCC	0.592000														42			53		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55874916	55874916	+	Silent	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:55874916G>T	uc003tqz.2	-	7	970	c.853C>A	c.(853-855)Cga>Aga	p.R285R		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	285					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGCATATCTCGGAGCTTAACG	0.338000														42			21		1.10513e-12	1.1161e-12	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26166140	26166140	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:26166140C>T	uc003abz.1	+	4	1826	c.1576C>T	c.(1576-1578)Ctt>Ttt	p.L526F	MYO18B_uc003aca.1_Missense_Mutation_p.L407F|MYO18B_uc010guy.1_Missense_Mutation_p.L407F|MYO18B_uc010guz.1_Missense_Mutation_p.L407F|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.L39F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	526						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGATTTACTCTTGGTAAGTA	0.488000														36			32		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114136167	114136167	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:114136167C>T	uc001kzu.3	+	0	212	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGGAAGCCCCCATTCACTAGA	0.602000														24			43		0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228353814	228353814	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:228353814C>T	uc001hsl.4	+	0	386	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	99					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						ACGCCCACTTCCTGAACGTGC	0.721000														1			4		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092869	30092869	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:30092869G>A	uc010dmc.3	+	0		c.1244G>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGATGAAGATGATTCTGATGA	0.458000														15			16		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122768941	122768941	+	Missense_Mutation	SNP	C	T	T	rs138989506	by1000genomes	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:122768941C>T	uc003vkm.3	-	9	1116	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	SLC13A1_uc010lks.3_Missense_Mutation_p.R240Q	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	364						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TCCGGGGTCTCGACTAAACCA	0.418000														20			13		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196395082	196395082	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:196395082C>T	uc001gtd.1	-	10	1081	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.D341N|KCNT2_uc001gtf.1_Missense_Mutation_p.D341N|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.D341N|KCNT2_uc009wyv.1_Missense_Mutation_p.D316N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	341						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACCTGTACATCCATTTCAGTA	0.368000														55			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126319956	126319956	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:126319956G>A	uc003ifj.4	+	1	5193	c.5193G>A	c.(5191-5193)caG>caA	p.Q1731Q	FAT4_uc011cgp.2_Silent_p.Q29Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1731	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACACTTCAGGATATCAATG	0.428000														39			59		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76796028	76796028	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:76796028C>T	uc009yup.3	+	1	281	c.96C>T	c.(94-96)ttC>ttT	p.F32F	CAPN5_uc001oxx.3_Silent_p.F32F|CAPN5_uc009yuq.3_Silent_p.F68F|CAPN5_uc001oxy.3_Silent_p.F72F	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	32	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACCCCCTCTTCCCCGCCACTG	0.637000														19			11		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424997	1424997	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:1424997G>A	uc003boz.3	+	18	2689	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	CNTN6_uc011asj.2_Missense_Mutation_p.G736R|CNTN6_uc003bpa.3_Missense_Mutation_p.G808R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	808	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGCCCCAAGGGGAACTTCTCT	0.433000														120			85		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70986510	70986510	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:70986510G>A	uc002ezr.3	-	40	6493	c.6342C>T	c.(6340-6342)gtC>gtT	p.V2114V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2115										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)				CTTGCCCTATGACGTTTTGAC	0.488000														18			7		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832414	113832414	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:113832414C>T	uc002tiu.3	+	3	308	c.233C>T	c.(232-234)tCc>tTc	p.S78F	IL1F10_uc002tiv.3_Missense_Mutation_p.S78F|IL1F10_uc002tiw.3_Missense_Mutation_p.S70F	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	78						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GAGGGGCCTTCCCTACAGCTG	0.607000														20			19		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484894	43484894	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:43484894A>C	uc003tid.1	+	10	2728	c.2123A>C	c.(2122-2124)tAc>tCc	p.Y708S	HECW1_uc011kbi.1_Missense_Mutation_p.Y708S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	708					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTCCTGCTACAACGGCAAC	0.637000														63			36		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29980343	29980343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:29980343G>A	uc011kaa.2	-	4	803	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	SCRN1_uc011jzy.2_Missense_Mutation_p.H164Y|SCRN1_uc003tak.3_Missense_Mutation_p.H232Y|SCRN1_uc011jzz.2_Missense_Mutation_p.H232Y|SCRN1_uc011jzw.2_Intron|SCRN1_uc010kvp.3_Missense_Mutation_p.H232Y|SCRN1_uc011jzx.2_Missense_Mutation_p.H55Y	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	232					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTCTAGATGATCCTCAACT	0.498000														67			33		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052233	40052233	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:40052233G>A	uc002xka.1	-	29	4632	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1485					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.S1485S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCCAAACGGGAAATGATGCG	0.443000														140			87		0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294109	219294109	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:219294109G>A	uc002vib.3	+	5	691	c.669G>A	c.(667-669)atG>atA	p.M223I	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Missense_Mutation_p.M223I|VIL1_uc002vic.1_Missense_Mutation_p.M223I	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	223	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAAGCTGATGGAGGTGATGA	0.627000														72			35		0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661453	39661453	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:39661453G>A	uc002hwu.1	-	0	413	c.350C>T	c.(349-351)tCc>tTc	p.S117F	KRT13_uc002hwv.1_Missense_Mutation_p.S117F|KRT13_uc010wfr.2_Missense_Mutation_p.S10F|KRT13_uc010cxo.3_Missense_Mutation_p.S117F|KRT13_uc021txk.1_Missense_Mutation_p.S10F	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	117	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CTCCAGGTAGGAAGCCAGGCG	0.597000														85			66		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39316104	39316104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:39316104C>T	uc003jlv.4	-	5	732	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	215	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.E215*(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCGTAATGTTCGGTTCTGAAA	0.313000														22			10		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20049728	20049728	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:20049728G>A	uc001umd.3	-	5	426	c.215C>T	c.(214-216)tCa>tTa	p.S72L	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	72						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y71N(1)|p.S72*(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGCAAAGGATGATACAATTGA	0.338000														24			9		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845425	106845425	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:106845425C>T	uc022cce.1	+	0	1791	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1419	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TCTGGGAGCTCCCAATTACAG	0.617000														11			45		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133923722	133923722	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:133923722G>A	uc003ytw.3	+	18	4144	c.4103G>A	c.(4102-4104)tGg>tAg	p.W1368*	TG_uc010mdw.3_Nonsense_Mutation_p.W127*	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1368					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATGTTACATGGAAATCACGG	0.478000														71			40		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104592929	104592929	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:104592929C>T	uc001kwg.3	-	4	962	c.790G>A	c.(790-792)Gac>Aac	p.D264N		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	264					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	ATCAGTGTGTCCAGCATGTTG	0.493000														19			34		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664630	169664630	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:169664630C>T	uc011bpp.2	-	1		c.3173G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		AAAACAACTTCCAACGTGCTG	0.522000														5			4		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086477	100086477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:100086477G>A	uc003uvd.1	+	3	1292	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	NYAP1_uc003uve.1_Missense_Mutation_p.R160Q	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	378	Pro-rich.																GTGCCTGCACGGGAGCGGGAG	0.697000														49			22		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74280830	74280830	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:74280830C>T	uc003hgs.4	+	8	1210	c.1137C>T	c.(1135-1137)acC>acT	p.T379T	ALB_uc011cbe.2_Silent_p.T58T|ALB_uc003hgw.4_Silent_p.T187T|ALB_uc011cbf.2_Silent_p.T269T	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	379	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CATATGAAACCACTCTAGAGA	0.388000														40			59		0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35921187	35921187	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:35921187C>T	uc003jjt.1	-	1	131	c.36G>A	c.(34-36)gcG>gcA	p.A12A	CAPSL_uc003jju.1_Silent_p.A12A	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	12						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TGGCCTGGATCGCCATCTCTC	0.612000														74			13		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432773	152432773	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:152432773G>A	uc021vrb.1	-	76	11726	c.11697C>T	c.(11695-11697)atC>atT	p.I3899I	NEB_uc002txr.3_Silent_p.I365I|NEB_uc002txu.3_Silent_p.I5600I|NEB_uc021vrc.1_Silent_p.I5600I|NEB_uc010fnx.3_Silent_p.I3887I|NEB_uc021vrd.1_Silent_p.I3899I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3899					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCACAAAAGATATTCTGGG	0.478000														45			29		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134278111	134278111	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:134278111C>T	uc003eqo.1	+	14	2242	c.1793C>T	c.(1792-1794)cCc>cTc	p.P598L	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.3_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	598					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTGCTAAGCCCCCTGAGTCCT	0.448000														93			68		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277044	186277044	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:186277044G>A	uc001gru.4	+	6	2244	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K690K|PRG4_uc009wyl.3_Silent_p.K638K|PRG4_uc009wym.3_Silent_p.K597K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	731	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCCAAGGAGCTTGCAC	0.587000														117			154		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179482566	179482566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179482566G>A	uc021vsy.1	-	201	40033	c.39808C>T	c.(39808-39810)Cga>Tga	p.R13270*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R6965*|TTN_uc021vta.1_Nonsense_Mutation_p.R6898*|TTN_uc021vtb.1_Nonsense_Mutation_p.R6773*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14197	Ig-like 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6965*(1)|p.R6773*(1)|p.R13270*(1)|p.R6898*(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)			ACTCCAATTCGATTTTGGGCT	0.453000														69			40		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204957842	204957842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:204957842C>T	uc010prc.2	+	23	3226	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	NFASC_uc001hbj.3_Missense_Mutation_p.P892L|NFASC_uc010pra.2_Missense_Mutation_p.P995L|NFASC_uc001hbi.3_Missense_Mutation_p.P995L|NFASC_uc010prb.2_Missense_Mutation_p.P1010L|NFASC_uc001hbk.1_Missense_Mutation_p.P805L|NFASC_uc001hbl.2_Missense_Mutation_p.P142L|NFASC_uc001hbm.2_Missense_Mutation_p.P38L|NFASC_uc001hbn.1_Missense_Mutation_p.P38L			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	999	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAACGGACCCCGTGTCACGC	0.567000														108			19		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50957717	50957717	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:50957717C>T	uc003blx.4	+	8	951	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L	NCAPH2_uc003blq.4_Silent_p.L277L|NCAPH2_uc003blv.3_Silent_p.L277L|NCAPH2_uc003blr.4_Silent_p.L277L	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	277					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAAGGCCGCTCTGGAGCCCAA	0.682000														3			5		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874626	36874626	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:36874626C>T	uc003cgj.3	-	20	6564	c.6316G>A	c.(6316-6318)Gag>Aag	p.E2106K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2106					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTTTTTTTCTCTCTCAAGTTC	0.408000														10			7		0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71825251	71825251	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:71825251C>T	uc004eax.4	-	25	2987	c.2686_splice	c.e25-1	p.E896_splice	PHKA1_uc004eay.4_Splice_Site_p.E896_splice|PHKA1_uc011mqi.2_Splice_Site_p.E837_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	896					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCATTATTTCCTGCACACAGA	0.373000														3			29		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515899	140515899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140515899G>A	uc003liq.3	+	0	1100	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E295K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTAATAGACGAGAAAACAGC	0.458000														78			36		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93965644	93965644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:93965644G>A	uc003poe.3	-	12	2525	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	EPHA7_uc003pof.3_Missense_Mutation_p.R757C|EPHA7_uc011eac.2_Missense_Mutation_p.R758C	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	762	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGAATATTGCGAGCTGCAAGG	0.423000														42			40		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639521	70639521	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:70639521G>A	uc003pfc.1	+	5	712	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	COL19A1_uc010kam.2_Missense_Mutation_p.E95K	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	199	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCAGACTGATGAAAAGGACAC	0.418000														40			41		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27326180	27326180	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:27326180G>A	uc003cdt.2	-	22	2201	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	NEK10_uc003cds.1_Nonsense_Mutation_p.R40*	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	643	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R643*(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTAAGTATCGAAGAGCTAAG	0.373000														28			23		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141163	114141163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:114141163C>T	uc004epu.1	+	5	1290	c.562C>T	c.(562-564)Cct>Tct	p.P188S	HTR2C_uc010nqc.1_Missense_Mutation_p.P188S|HTR2C_uc004epv.1_Missense_Mutation_p.S156F	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	188					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.P188L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGTATCAGTTCCTATCCCTGT	0.433000														14			31		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651213	96651213	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:96651213T>G	uc003pop.4	+	2	523	c.182T>G	c.(181-183)tTt>tGt	p.F61C	FUT9_uc021zcw.1_Missense_Mutation_p.F61C	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	61					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACTGATTATTTTAATGAAACT	0.418000														44			48		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129759863	129759863	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:129759863G>A	uc021zfb.1	+	41	6146	c.6041G>A	c.(6040-6042)aGa>aAa	p.R2014K	LAMA2_uc003qbn.3_Missense_Mutation_p.R2014K|LAMA2_uc003qbo.3_Missense_Mutation_p.R2014K|U6_uc021zfc.1_5'Flank	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2014	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2013L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATCTCTTGAGAACTTTGAAT	0.363000														69			19		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492646	74492646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:74492646C>T	uc001dfy.4	-	7	1918	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	576										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTATATATTTCTTGAGATCTA	0.284000														12			10		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824031	114824031	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:114824031C>T	uc003ibq.1	-	1	2087	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D	ARSJ_uc010imu.1_Missense_Mutation_p.G400D|ARSJ_uc010imv.1_Missense_Mutation_p.G228D	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	400						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GATATCATAGCCATCTAGTTG	0.458000														52			103		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771847	143771847	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:143771847G>A	uc011ktx.2	+	0	535	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTTTTCTGTGAAATTATGGC	0.463000														104			60		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465469	10465469	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:10465469C>T	uc003wtc.3	-	3	6368	c.6139G>A	c.(6139-6141)Gat>Aat	p.D2047N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2047					intracellular signal transduction			p.D2047N(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCTGGGCATCCCCTTCTGTC	0.637000														231			143		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593742	101593742	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:101593742G>A	uc003knm.3	-	6	1465	c.1178C>T	c.(1177-1179)tCa>tTa	p.S393L		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	393					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TAAGGCTTCTGAAGAAGTTGA	0.318000														24			13		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651457	142651457	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142651457G>A	uc003wcb.3	-	7	948	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	246					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.I246T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATTCCCGAAAGATCTGGAGGA	0.532000														37			25		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160876730	160876730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:160876730G>A	uc002ube.2	-	7	1551	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S	PLA2R1_uc010zcp.2_Missense_Mutation_p.P447S|PLA2R1_uc002ubf.3_Missense_Mutation_p.P447S	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	447	C-type lectin 2.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAGGAAACTGGAATTTTATTG	0.363000														21			18		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64673916	64673916	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:64673916C>T	uc001obx.3	-	20	3188	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1025							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACCCCTTCCTCCGATGGGTAG	0.692000														41			23		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113483	55113483	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:55113483C>T	uc003pcl.3	+	1	585	c.270C>T	c.(268-270)aaC>aaT	p.N90N	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.N25N	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	90					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGGTAACCAACTACTTCATAG	0.448000														56			84		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748522	30748522	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30748522C>T	uc002dze.1	+	33	7546	c.7161C>T	c.(7159-7161)gcC>gcT	p.A2387A	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.A2182A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2387					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCCAAAGCCCCTGAGAGGC	0.637000														43			30		0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15978205	15978205	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:15978205C>T	uc001awx.2	+	7	1211	c.998C>T	c.(997-999)tCc>tTc	p.S333F	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	333					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCCAAGTGTTCCATCGACCTG	0.443000														43			10		0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83532943	83532943	+	Silent	SNP	G	A	A	rs11629943		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:83532943G>A	uc002bjg.3	-	3	552	c.363C>T	c.(361-363)atC>atT	p.I121I	HOMER2_uc002bjh.3_Silent_p.I121I	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	121					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						TTGAGGTCTCGATTTTCTCCT	0.418000														23			19		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539526	133539526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:133539526C>T	uc002ttp.3	-	13	5232	c.4858G>A	c.(4858-4860)Gaa>Aaa	p.E1620K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1620							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAAGAGTTCCGTCATGAAG	0.448000														41			18		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181706660	181706661	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:181706660_181706661GG>AA	uc009wxt.3	+	23	3618	c.3423_splice	c.e23-1	p.P1141_splice	CACNA1E_uc001gow.3_Splice_Site_p.P1141_splice|CACNA1E_uc009wxs.3_Splice_Site_p.P1122_splice|CACNA1E_uc001gox.1_Splice_Site_p.P367_splice	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1141					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTGCCCGCAGGATCCGGAGGG	0.624000														75			4		0	0	1	0	0
UFD1L	7353	broad.mit.edu	37	22	19463094	19463094	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:19463094G>A	uc002zpm.2	-	1	165	c.35C>T	c.(34-36)cCc>cTc	p.P12L	UFD1L_uc002zpo.2_Missense_Mutation_p.P12L|UFD1L_uc011agy.1_Missense_Mutation_p.P12L|UFD1L_uc002zpp.2_5'UTR|UFD1L_uc010grq.2_5'UTR	NM_005659	NP_005650	Q92890	UFD1_HUMAN	Homo sapiens ubiquitin fusion degradation 1 like (yeast) (UFD1L), transcript variant 1, mRNA.	12					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					GAAGACCCTGGGAATAGGGTG	0.453000														41			29		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40720929	40720929	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:40720929C>T	uc002ona.3	+	9	2883	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	865					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGCCCTGTTCCCAGCCCGCC	0.721000														27			18		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068396	9068396	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9068396G>A	uc002mkp.3	-	2	19254	c.19050C>T	c.(19048-19050)tcC>tcT	p.S6350S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6352	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						TCATCGCAGAGGATCTAGGCA	0.458000														19			22		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287652	46287652	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:46287652G>A	uc001van.1	+	2	572	c.492G>A	c.(490-492)aaG>aaA	p.K164K	SPERT_uc001vao.2_Silent_p.K128K	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	164						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGCTGGCCAAGGAGTGCATGC	0.597000														57			56		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370873	76370873	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:76370873G>A	uc001oxq.4	-	2	2007	c.1764C>T	c.(1762-1764)ggC>ggT	p.G588G	LRRC32_uc001oxr.4_Silent_p.G588G|LRRC32_uc010rsf.2_Silent_p.G574G	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	588	LRRCT.					integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CGTCCACACGGCCCTGGTGCA	0.677000														62			15		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550960	8550960	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:8550960C>T	uc010dwe.3	+	13	1728	c.1648C>T	c.(1648-1650)Cgc>Tgc	p.R550C	HNRNPM_uc010xke.1_Missense_Mutation_p.R496C|HNRNPM_uc010dwd.3_Missense_Mutation_p.R511C|HNRNPM_uc002mka.3_Missense_Mutation_p.R415C|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	550	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CGTGATGGATCGCATGGCCAC	0.701000														82			60		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87751949	87751949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:87751949C>T	uc003ydx.3	-	1	193	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	49					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GATTTCTCTTCACCTTTGTTT	0.323000														19			15		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207815	81207815	+	Missense_Mutation	SNP	C	T	T	rs137903755		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:81207815C>T	uc003hmd.3	+	2	1033	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	266					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						ACTCAAGTTTCGCTTTGGATA	0.418000														21			38		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49698148	49698148	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:49698148C>T	uc003jom.3	-	6	1132	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	EMB_uc010ivq.3_Missense_Mutation_p.G89R|EMB_uc003jol.3_Missense_Mutation_p.G226R|EMB_uc011cpy.2_Missense_Mutation_p.G245R	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	295						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				AATTCTTTCCCCTCATCTGTG	0.308000														27			5		0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15772136	15772136	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:15772136C>T	uc001awi.1	+	6	707	c.684C>T	c.(682-684)tcC>tcT	p.S228S	CTRC_uc001awj.1_Silent_p.L180L	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	228	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAACGGTTCCTGGGAGGTGT	0.647000														49			93		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69265695	69265695	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:69265695G>A	uc001sup.3	-	3	361	c.300C>T	c.(298-300)ctC>ctT	p.L100L	CPM_uc001sur.3_Silent_p.L100L|CPM_uc001suq.3_Silent_p.L100L	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	100					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CACTGGTTACGAGATAGTCAA	0.443000														20			27		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88239495	88239495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:88239495G>A	uc003hqo.2	-	1	367	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	HSD17B13_uc010ikk.2_Intron	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	102						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTAGAGAGCGATAGATCTCT	0.468000														58			17		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926121	1926121	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:1926121G>A	uc002qxe.3	-	9	2247	c.1420C>T	c.(1420-1422)Ccc>Tcc	p.P474S	MYT1L_uc002qxd.3_Missense_Mutation_p.P474S|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	474					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P474P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCTCCCCGGGAAGTTGTCTC	0.473000														37			36		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55925786	55925786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:55925786C>T	uc003pcs.3	-	25	2487	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	COL21A1_uc010jzz.3_Missense_Mutation_p.G137E|COL21A1_uc011dxg.2_Missense_Mutation_p.G125E|COL21A1_uc011dxh.2_Missense_Mutation_p.G137E|COL21A1_uc003pcr.3_Missense_Mutation_p.G109E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	752	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCAGATTCTCCTTTTGATCC	0.507000														28			24		0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37502923	37502923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:37502923G>A	uc002rqd.3	-	8	1916	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	PRKD3_uc002rqe.1_Missense_Mutation_p.S54L|PRKD3_uc002rqf.1_Missense_Mutation_p.S454L	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	454	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATAATACTTTGATCCAGATTC	0.264000														13			9		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51771825	51771825	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:51771825G>A	uc002pwb.1	+	6	949	c.568_splice	c.e6-1	p.E190_splice	C19orf75_uc010eov.1_Splice_Site|C19orf75_uc010ycw.1_Splice_Site_p.E96_splice	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	190						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TCGCTTTCAGGAAAAGCAAGA	0.428000														11			17		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31598902	31598902	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:31598902G>A	uc002wyj.3	+	2	376	c.182G>A	c.(181-183)gGa>gAa	p.G61E		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	61						extracellular region	lipid binding										GACTGGAGTGGAGAGGCGCTT	0.612000														88			26		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68934283	68934283	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:68934283C>T	uc003xxv.1	+	3	376	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	PREX2_uc003xxu.1_Missense_Mutation_p.R117C|PREX2_uc011lez.1_Missense_Mutation_p.R52C	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	117	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGACAAGTTTCGTATCTATGA	0.303000														22			12		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57515256	57515256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:57515256C>T	uc004dvc.3	+	10	1639	c.1490C>T	c.(1489-1491)cCt>cTt	p.P497L		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	497						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AAAGGACTCCCTTTAGGCATC	0.502000										HNSCC(52;0.14)				4			19		0	0	1	0	0
NAB1	4664	broad.mit.edu	37	2	191524716	191524716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:191524716C>T	uc002usb.3	+	3	1386	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	NAB1_uc010fsc.3_Missense_Mutation_p.H272Y|NAB1_uc010fsd.3_Missense_Mutation_p.H272Y|NAB1_uc002usc.3_Missense_Mutation_p.H272Y|NAB1_uc010zgh.2_Missense_Mutation_p.H272Y	NM_005966	NP_005957	Q13506	NAB1_HUMAN	Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.	272	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TCTCACACTTCATGAGGTACA	0.413000														34			28		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153691743	153691743	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:153691743G>T	uc004flm.3	+	4	1500	c.1327G>T	c.(1327-1329)Gat>Tat	p.D443Y		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	443	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGCGGGTCGATGGCTTCCA	0.612000														28			89		3.85665e-30	3.91615e-30	1	1	0
CAPNS1	826	broad.mit.edu	37	19	36634007	36634007	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:36634007C>T	uc002odi.1	+	5	590	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	CAPNS1_uc002odk.3_Missense_Mutation_p.R145C|CAPNS1_uc002odj.3_Missense_Mutation_p.R145C|CAPNS1_uc002odl.3_Missense_Mutation_p.R145C	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	145	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGACACATGTCGCAGCATGGT	0.527000														75			62		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170366325	170366325	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:170366325C>T	uc002ueu.1	+	0	114	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	13					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						GGAACTGCGGCTTTACCAATC	0.488000														53			39		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848293	56848294	+	Missense_Mutation	DNP	AG	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56848293_56848294AG>TT	uc001slh.3	-	0	142_143	c.104_105CT>AA	c.(103-105)gct>gAA	p.A35E		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	35					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GGGGTCCAGGAGCCCAGCGCAG	0.579000														68			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069839	9069839	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9069839C>T	uc002mkp.3	-	2	17811	c.17607G>A	c.(17605-17607)ggG>ggA	p.G5869G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5871	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						GTGAGATAGTCCCTATAGGAC	0.502000														66			52		0	0	1	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986039	31986039	+	Missense_Mutation	SNP	C	T	T	rs144374144		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:31986039C>T	uc002yop.3	-	0	185	c.185G>A	c.(184-186)gGa>gAa	p.G62E	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	62						cytosol|intermediate filament		p.G62V(2)		breast(2)|endometrium(1)|lung(7)	10						AGAGCCGCATCCATAGCCATA	0.562000														127			80		0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27946683	27946683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:27946683C>T	uc002hel.2	-	1	309	c.307G>A	c.(307-309)Gac>Aac	p.D103N	CORO6_uc002hem.3_5'Flank|CORO6_uc002hen.3_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	103					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						ATGGTGGTGTCGTCTGAGGCA	0.577000														73			51		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60375600	60375600	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:60375600G>A	uc001czq.3	-	4	722	c.717C>T	c.(715-717)ttC>ttT	p.F239F		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	239					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GTCCAGGCAGGAATTTCATTA	0.363000														42			9		0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75435858	75435858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:75435858C>T	uc004aiz.1	+	19	2404	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	TMC1_uc010moz.1_Missense_Mutation_p.P580S|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.P476S|TMC1_uc010mpa.1_Missense_Mutation_p.P476S	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	622					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CTGCAATGTTCCTGAGGCCAG	0.502000														27			40		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38541473	38541473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:38541473C>T	uc003auy.1	-	2	533	c.397G>A	c.(397-399)Gag>Aag	p.E133K	PLA2G6_uc003auz.1_Missense_Mutation_p.E133K|PLA2G6_uc003ava.1_Missense_Mutation_p.E133K|PLA2G6_uc003avb.2_Missense_Mutation_p.E133K|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.E133K	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	133					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGGAAGCACTCGCGGATCCCT	0.607000														3			12		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207850845	207850845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:207850845C>T	uc001hga.4	+	1	330	c.209C>T	c.(208-210)tCc>tTc	p.S70F	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	70	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTGGTTATTCCGGAAGACCG	0.473000														157			20		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003271	120003271	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:120003271C>T	uc002tlp.3	+	2	356	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	STEAP3_uc002tlq.3_Silent_p.L77L|STEAP3_uc002tlr.3_Silent_p.L67L|STEAP3_uc010fle.3_Silent_p.L67L	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	67					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CACAGCCAGGCTGTTTCCCTC	0.627000														27			14		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39047409	39047409	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:39047409G>A	uc003ooj.4	+	10	1173	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	371					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCTTTGTGATGGACGAGCACG	0.562000														66			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229647	140229647	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140229647T>C	uc003lhu.2	+	0	2291	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.L523L	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682000														234			4		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78130755	78130755	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:78130755C>T	uc001vki.3	+	2	238	c.68C>T	c.(67-69)aCc>aTc	p.T23I	SCEL_uc010thx.2_Missense_Mutation_p.T23I|SCEL_uc001vkj.3_Missense_Mutation_p.T23I	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	23					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACTCAGGGAACCACACGGAAG	0.423000														151			121		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724537	49724538	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:49724537_49724538CC>TT	uc009zlh.3	+	12	2076_2077	c.1909_1910CC>TT	c.(1909-1911)cct>TTt	p.P637F	TROAP_uc001rtx.4_Missense_Mutation_p.P637F	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	637	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGGGCCCTGCCCTAGGGTAGAG	0.649000														66			14		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55167785	55167785	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:55167785C>T	uc010ooe.1	+	19	3632	c.3308C>T	c.(3307-3309)tCc>tTc	p.S1103F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.S621F|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.S305F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1103						integral to membrane	binding	p.S1103F(1)|p.S1100F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGCGCTCCTCCTGCATCAAC	0.622000														12			23		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50832017	50832017	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:50832017C>T	uc002lfe.2	+	12	2597	c.1981C>T	c.(1981-1983)Cga>Tga	p.R661*	DCC_uc010xdr.1_Nonsense_Mutation_p.R509*|DCC_uc010dpf.2_Nonsense_Mutation_p.R316*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	661	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R661*(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTATAAAATTCGACACAGAAA	0.423000														31			20		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345778	33345778	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:33345778G>A	uc002xav.3	-	7	3344	c.773C>T	c.(772-774)cCc>cTc	p.P258L	NCOA6_uc002xaw.3_Missense_Mutation_p.P258L|NCOA6_uc021wcd.1_Missense_Mutation_p.P258L|NCOA6_uc021wce.1_Missense_Mutation_p.P258L|NCOA6_uc021wcf.1_Missense_Mutation_p.P258L|NCOA6_uc010gew.1_Missense_Mutation_p.P215L	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	258	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ctgcagctgGGGAAAATTAGC	0.522000														52			16		0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184651	39184651	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:39184651G>A	uc003cjg.3	-	4	1879	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S	CSRNP1_uc003cjh.3_Silent_p.S555S	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	555					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AGCCCATGAGGGACTCCAGGA	0.597000														50			37		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216181	131216181	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:131216181G>A	uc003qch.2	-	8	1497	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	EPB41L2_uc010kfl.2_Missense_Mutation_p.R439C|EPB41L2_uc003qcg.1_Missense_Mutation_p.R439C|EPB41L2_uc003qci.3_Missense_Mutation_p.R439C|EPB41L2_uc011eby.2_Missense_Mutation_p.R439C|EPB41L2_uc010kfk.2_Missense_Mutation_p.R439C	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	439	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAAGCAAAACGATTGATTCGC	0.413000														56			24		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536878	30536878	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30536878G>A	uc002dyk.4	-	1	759	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	ZNF768_uc010vex.2_Silent_p.L164L|ZNF768_uc010vew.2_Silent_p.L164L	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	195					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AAGGAGTCCAGGGGGTGAACT	0.552000														81			63		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567189	4567189	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:4567189C>T	uc010qyf.2	+	0	769	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTTATGTTCCCATTGCTGT	0.517000														54			34		0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215751403	215751403	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:215751403C>T	uc001hks.3	+	5	670	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	KCTD3_uc001hkt.3_Missense_Mutation_p.H126Y|KCTD3_uc010pub.2_Missense_Mutation_p.H24Y|KCTD3_uc009xdn.3_5'Flank	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	126						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGTCCTTTTTCATGGTTACTT	0.353000														100			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640866	179640866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179640866C>T	uc021vsy.1	-	27	5950	c.5725G>A	c.(5725-5727)Gaa>Aaa	p.E1909K	TTN_uc021vsz.1_Missense_Mutation_p.E1863K|TTN_uc021vta.1_Missense_Mutation_p.E1863K|TTN_uc021vtb.1_Missense_Mutation_p.E1863K|TTN_uc002unb.2_Missense_Mutation_p.E1909K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1909	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTCACTTCACCTGTGTCA	0.458000														135			80		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832362	130832362	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:130832362C>T	uc010fmh.2	-	16	3083	c.2683G>A	c.(2683-2685)Gag>Aag	p.E895K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	895	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAGCCATGCTCGGTGAGGATC	0.587000														21			58		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43929563	43929563	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:43929563C>T	uc002xnn.2	-	5	1163	c.976G>A	c.(976-978)Ggg>Agg	p.G326R	MATN4_uc002xnp.2_Missense_Mutation_p.G244R|MATN4_uc002xno.2_Missense_Mutation_p.G285R|MATN4_uc010zwr.1_Missense_Mutation_p.G274R|MATN4_uc002xnr.1_Missense_Mutation_p.G326R	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	367	EGF-like 3.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGTTGCCGCCCCTCGGGGCAC	0.607000														44			7		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175688129	175688129	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:175688129G>A	uc003ity.1	-	2	755	c.252C>T	c.(250-252)atC>atT	p.I84I	GLRA3_uc003itz.1_Silent_p.I84I	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	84					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TCGTCTCTGCGATAGAGCCAA	0.358000														50			9		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145568084	145568084	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:145568084G>A	uc003ijs.2	+	0	937	c.257G>A	c.(256-258)gGg>gAg	p.G86E	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.G86E	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	86						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GACAGCCCGGGGCTAGGGCGC	0.632000														63			16		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12858301	12858301	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:12858301G>A	uc003bxk.2	+	9	1919	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CAND2_uc003bxj.2_Missense_Mutation_p.E531K	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	624					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGCGGAATGAGATCACCCG	0.632000														123			58		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354624	220354624	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:220354624C>T	uc010fwg.3	+	35	8884	c.8884C>T	c.(8884-8886)Cct>Tct	p.P2962S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2962	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACAGGGTCCCCCTCAGAAACC	0.632000														21			23		0	0	1	0	0
CADM4	199731	broad.mit.edu	37	19	44130381	44130381	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:44130381G>A	uc002oxc.1	-	4	608	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	187	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CGGTCCACACGAAACCGTACT	0.597000														17			14		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20069207	20069207	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:20069207C>T	uc003wzp.3	+	6	862	c.648C>T	c.(646-648)tcC>tcT	p.S216S		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	216					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TAAAGAAATCCAAAGATGTAG	0.328000														24			24		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127569268	127569268	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:127569268C>T	uc003vmi.3	+	14	1781	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	SND1_uc010lle.3_Missense_Mutation_p.P172S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	519					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCAGTTCCTGCCTTTTCTTCA	0.428000														57			45		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769535	57769535	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:57769535C>T	uc002yan.3	+	0	3461	c.3461C>T	c.(3460-3462)tCc>tTc	p.S1154F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1154						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCTTGTCTTCCCACTCAGGG	0.682000														138			22		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66520842	66520842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:66520842C>T	uc003tvn.3	+	8	1272	c.1123C>T	c.(1123-1125)Cac>Tac	p.H375Y	TYW1_uc010lai.3_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	375					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GATTGGGAGCCACTCGGGGGT	0.353000														17			9		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911259	230911259	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:230911259G>A	uc002vqd.2	-	3	1042	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Nonsense_Mutation_p.Q195*|SLC16A14_uc002vqf.3_Nonsense_Mutation_p.Q195*	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	195						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACGGCACCTTGGATCAACATG	0.567000														99			59		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117228754	117228754	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:117228754C>T	uc001lcg.3	+	23	3955	c.3569C>T	c.(3568-3570)tCc>tTc	p.S1190F	ATRNL1_uc010qsm.2_Missense_Mutation_p.S319F|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1190						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GATAGTTTTTCCTATGAAAAA	0.289000														14			8		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358351	10358351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:10358351C>T	uc002gmn.3	-	20	2453	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	781	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTTCATCTCGCATTTCCTC	0.433000														9			21		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100221556	100221556	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:100221556G>A	uc001pga.3	+	23	3658	c.3154G>A	c.(3154-3156)Gga>Aga	p.G1052R	CNTN5_uc021qpb.1_Missense_Mutation_p.G1052R|CNTN5_uc021qpc.1_Missense_Mutation_p.G978R|CNTN5_uc010ruk.2_Missense_Mutation_p.G323R	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1052	Fibronectin type-III 4.				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)		TAGTGAAGGAGGAGATGGAAC	0.393000														41			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432270	179432270	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179432270G>A	uc021vsy.1	-	274	71110	c.70885C>T	c.(70885-70887)Cca>Tca	p.P23629S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17324S|TTN_uc021vta.1_Missense_Mutation_p.P17257S|TTN_uc021vtb.1_Missense_Mutation_p.P17132S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24556	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAATTTTGGATCCATTGAA	0.438000														21			15		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122888594	122888594	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:122888594C>T	uc010rzt.2	+	0		c.321C>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		GTTCTTGATTCGTATTGGGTC	0.478000														58			44		0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37954009	37954009	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:37954009C>T	uc003tfo.4	-	1	878	c.492G>A	c.(490-492)agG>agA	p.R164R		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	164					Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CATCAAGAGGCCTTTCCTGTA	0.478000														29			20		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699064	17699064	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:17699064C>T	uc002rcl.1	-	0	643	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E198K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	207										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTTAATTTCATGAAATGGT	0.299000														24			4		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073511	74073511	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:74073511C>T	uc003pgt.4	+	2	635	c.582C>T	c.(580-582)tcC>tcT	p.S194S		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	194										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CCCAGCGATCCCCCGAAGCTG	0.642000														53			9		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52163680	52163680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:52163680G>A	uc001ryw.3	+	17	3579	c.3401G>A	c.(3400-3402)gGa>gAa	p.G1134E	SCN8A_uc010snl.2_Missense_Mutation_p.G1134E	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1134					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCCTCTGAAGGAAGCACCATT	0.507000														6			10		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	720770	720770	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:720770C>T	uc002cip.3	+	8	753	c.636C>T	c.(634-636)ttC>ttT	p.F212F	RHOT2_uc002ciq.3_Silent_p.F105F|RHOT2_uc010bqy.3_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	212	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TCAACGCTTTCCAGGTGTGCC	0.662000														47			30		0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147204	1147204	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:1147204C>T	uc001adf.3	-	4	1253	c.655G>A	c.(655-657)Gtt>Att	p.V219I	TNFRSF4_uc001ade.3_Missense_Mutation_p.V215I			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	215					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGCGGCAACCGCACGGCCT	0.736000														0			3		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23624842	23624842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:23624842C>T	uc003swk.2	-	0	1305	c.655G>A	c.(655-657)Gag>Aag	p.E219K						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TGGTCTTCCTCTGCCTCTGAG	0.527000														47			33		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108389027	108389027	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:108389027G>A	uc001kyl.3	-	18	2777	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F	SORCS1_uc021pxw.1_Silent_p.F865F|SORCS1_uc009xxs.3_Silent_p.F865F|SORCS1_uc001kym.3_Silent_p.F865F|SORCS1_uc001kyn.2_Silent_p.F865F|SORCS1_uc001kyo.3_Silent_p.F865F	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	865	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGGTCACACGGAAAATGCCCA	0.473000														5			11		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345398	53345398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:53345398G>A	uc001sbe.3	+	4	860	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	KRT18_uc009zmn.2_Missense_Mutation_p.R264Q|KRT18_uc001sbg.3_Missense_Mutation_p.R264Q|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	264	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CGGAAGAACCGAGAGGAGCTA	0.602000														15			20		0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733418	56733418	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:56733418C>T	uc002qmq.3	-	4	1183	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	ZSCAN5A_uc010ygi.2_Silent_p.A222A|ZSCAN5A_uc002qmr.3_Silent_p.A339A|ZSCAN5A_uc002qms.1_Silent_p.A338A	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	339					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A339A(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGACTGGGCTCGCAGGGCCTG	0.552000														31			14		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209110041	209110041	+	Splice_Site	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:209110041A>G	uc002vcs.3	-	5	766	c.520_splice	c.e5+1	p.E174_splice	IDH1_uc002vct.3_Splice_Site_p.E174_splice|IDH1_uc002vcu.3_Splice_Site_p.E174_splice	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	174				E -> G (in Ref. 4; CAD97653).	2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		AGTCATACATACCTTCAAAGT	0.328000			Mis		gliobastoma									36			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665129	179665129	+	Silent	SNP	C	T	T	rs150591951		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179665129C>T	uc021vsy.1	-	3	801	c.576G>A	c.(574-576)ctG>ctA	p.L192L	TTN_uc021vsz.1_Silent_p.L192L|TTN_uc021vta.1_Silent_p.L192L|TTN_uc021vtb.1_Silent_p.L192L|TTN_uc002unb.2_Silent_p.L192L|TTN_uc002und.3_Silent_p.L192L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	192	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L192L(3)		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)			TACCTTGAACCAGTAATTCAG	0.512000														88			72		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139164	126139164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:126139164G>A	uc001uhe.1	+	8	3153	c.3145G>A	c.(3145-3147)Gat>Aat	p.D1049N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D561N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1049						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTTTGACAGCGATGATAACAT	0.498000														47			12		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769160	247769160	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:247769160G>A	uc010pyz.2	+	0	273	c.273G>A	c.(271-273)acG>acA	p.T91T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAAAGAAGACGATCACTTACG	0.463000														82			217		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65138896	65138896	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:65138896C>T	uc001dbo.1	+	17	2518	c.2413C>T	c.(2413-2415)Ccc>Tcc	p.P805S	CACHD1_uc001dbp.1_Missense_Mutation_p.P560S|CACHD1_uc001dbq.1_Missense_Mutation_p.P560S|CACHD1_uc010opa.1_Missense_Mutation_p.P49S	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	856	Cache 2.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCTCATCGACCCCAAAGGACA	0.502000														181			37		0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37634987	37634987	+	Missense_Mutation	SNP	C	T	T	rs149553143		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:37634987C>T	uc002xjh.3	+	11	1240	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	DHX35_uc010zwa.2_Missense_Mutation_p.R249C|DHX35_uc010zwc.2_Missense_Mutation_p.R373C|DHX35_uc010zwb.2_Missense_Mutation_p.R249C	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	404	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R404H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAAATGTTATCGCCTTTATAC	0.483000														90			57		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44948573	44948573	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:44948573G>A	uc003coc.4	+	9	1281	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	403					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGGTGAATGGGCAGGAGGAG	0.483000														84			42		0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53069518	53069518	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:53069518C>T	uc001sau.1	-	7	1545	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	KRT1_uc001sav.1_Missense_Mutation_p.E496K	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	496	Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGGGCACATTCTCCAGACATC	0.498000														26			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106610591	106610591	+	RNA	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:106610591C>A	uc021ser.1	-	1671		c.31980G>T								Parts of antibodies, mostly variable regions.																		AAGCCTCCCCCAGACTCCACC	0.557000														27			68		3.56841e-20	3.61525e-20	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152060596	152060596	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:152060596G>A	uc001ezo.1	-	1	89	c.24C>T	c.(22-24)gtC>gtT	p.V8V		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	8							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTACACAGAGGACATTTCTCA	0.473000														36			62		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018781	161018781	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:161018781C>T	uc001fxl.3	-	11	2376	c.2030G>A	c.(2029-2031)gGa>gAa	p.G677E	ARHGAP30_uc001fxk.3_Missense_Mutation_p.G677E|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G523E|ARHGAP30_uc009wtx.3_Missense_Mutation_p.G350E|ARHGAP30_uc001fxn.1_Missense_Mutation_p.G523E	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	677	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E676*(1)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTGGACTTCCCTCTGCCTC	0.592000														66			158		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70889137	70889137	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:70889137C>T	uc002ezr.3	-	72	12485	c.12334G>A	c.(12334-12336)Gag>Aag	p.E4112K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4113										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)				AACCCCTGCTCCTCCTTGTTA	0.547000														67			30		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52825901	52825901	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:52825901G>A	uc003dfs.3	+	21	2740	c.2710G>A	c.(2710-2712)Gat>Aat	p.D904N	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D762N|ITIH1_uc021wzg.1_Missense_Mutation_p.D616N|ITIH1_uc021wzh.1_Missense_Mutation_p.D616N|ITIH1_uc003dft.3_Silent_p.*495*|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	904	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCCTACACTGATTATATCGT	0.587000														30			27		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410512	5410512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:5410512G>A	uc003soi.4	-	10	4062	c.3713C>T	c.(3712-3714)cCc>cTc	p.P1238L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1238							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCGGTGCAGGGTTCTGTCCG	0.697000														30			16		0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51121201	51121201	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:51121201C>T	uc001cse.1	-	8	1111	c.658_splice	c.e8-1	p.V220_splice	FAF1_uc009vyw.1_Intron	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	220					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTCTCTTTACCTATGAAAAGA	0.378000														41			6		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52437159	52437159	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:52437159G>A	uc003ddx.3	-	13	2000	c.1885C>T	c.(1885-1887)Ccc>Tcc	p.P629S	BAP1_uc003ddw.3_Intron|BAP1_uc010hmg.3_Non-coding_Transcript|BAP1_uc010hmh.3_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	629	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTCACCTTGGGTGAGTATTTC	0.577000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								30			23		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636944	248636944	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:248636944C>T	uc001iel.1	+	0	293	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATACCATTTCCCCGTCAGGC	0.542000														18			43		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881722	228881722	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:228881722G>A	uc002vpq.2	-	6	3895	c.3848C>T	c.(3847-3849)tCc>tTc	p.S1283F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1283F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1283F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1283						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGAGACCGGATGAGGACGC	0.502000														49			34		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784116	24784116	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:24784116G>A	uc001iru.4	+	7	2228	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	KIAA1217_uc001irs.3_Missense_Mutation_p.D529N|KIAA1217_uc001irt.4_Missense_Mutation_p.D574N|KIAA1217_uc010qcy.2_Missense_Mutation_p.D574N|KIAA1217_uc010qcz.2_Missense_Mutation_p.D574N|KIAA1217_uc001irv.1_Missense_Mutation_p.D424N|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.D292N|KIAA1217_uc001irz.3_Missense_Mutation_p.D292N|KIAA1217_uc001irx.3_Missense_Mutation_p.D292N|KIAA1217_uc001iry.3_Missense_Mutation_p.D292N	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	609					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAACCACACAGATAGTGCAGG	0.423000														16			33		0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39243911	39243911	+	Missense_Mutation	SNP	C	T	T	rs148094915		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:39243911C>T	uc003thb.2	+	3	411	c.268C>T	c.(268-270)Cca>Tca	p.P90S	POU6F2_uc022acb.1_Missense_Mutation_p.P90S|POU6F2_uc010kxo.3_Missense_Mutation_p.P82S	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	90					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCCCCATTTCCAGTTGGGCC	0.453000														14			12		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434966	82434966	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:82434966C>T	uc001dit.4	+	13	2758	c.2577C>T	c.(2575-2577)ttC>ttT	p.F859F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F859F|LPHN2_uc001div.3_Silent_p.F859F|LPHN2_uc009wcd.3_Silent_p.F859F|LPHN2_uc001diw.3_Silent_p.F443F|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	872					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.F859C(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCTGCTTTTTCCGTGGCCTAC	0.393000														39			77		0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5087258	5087258	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:5087258G>A	uc010cla.1	-	1	450	c.294C>T	c.(292-294)tcC>tcT	p.S98S	ZNF594_uc021tol.1_Silent_p.S98S	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CATATCTATGGGAGCTTTCTC	0.373000														7			26		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9309930	9309930	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:9309930G>A	uc001qvl.3	-	27	3420	c.3391C>T	c.(3391-3393)Ctg>Ttg	p.L1131L	PZP_uc009zgl.3_Silent_p.L917L	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.A1130T(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						AGGCAGAACAGGGCATTGCGA	0.507000														31			21		0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105474268	105474268	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:105474268G>A	uc003pqv.1	+	2	497	c.294G>A	c.(292-294)cgG>cgA	p.R98R	LIN28B_uc010kda.1_Silent_p.R58R	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	98	CSD.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding	p.R98L(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AGTCAATACGGGTAACAGGAC	0.408000														85			103		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183600989	183600989	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:183600989G>A	uc003ivd.1	+	6	1572	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	499					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATAATGATGGGAAAAATGCAG	0.448000														18			4		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170955831	170955831	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:170955831C>T	uc010plz.2	+	9	1013	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	C1orf129_uc001ghg.3_Missense_Mutation_p.H287Y|C1orf129_uc009wvy.3_Missense_Mutation_p.H94Y	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	287							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGGAATTTCATGCCGAGAA	0.428000														82			14		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557039	214557039	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:214557039G>A	uc001hkk.2	-	12	2812	c.2159C>T	c.(2158-2160)tCg>tTg	p.S720L	PTPN14_uc021piy.1_Missense_Mutation_p.S484L|PTPN14_uc010pty.2_Missense_Mutation_p.S621L	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	720					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.S720L(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGGGGCACCGATTCTGGAGC	0.622000														22			50		0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956508	99956508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:99956508C>T	uc022aim.1	+	6	1332	c.260C>T	c.(259-261)cCt>cTt	p.P87L	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Missense_Mutation_p.P87L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	87	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.P86L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAAGGCCGCCTTCCATTCAC	0.547000														118			8		0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77224705	77224705	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:77224705G>A	uc002bcd.3	+	1	369	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_002902	NP_002893	Q14257	RCN2_HUMAN	Homo sapiens reticulocalbin 2, EF-hand calcium binding domain (RCN2), mRNA.	50						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CCTAAAGGAAGATGTGGATGA	0.473000														12			4		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10711037	10711037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:10711037G>A	uc001aro.3	-	11	3097	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	CASZ1_uc001arp.1_Missense_Mutation_p.S926F	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCGGTCCTGGGAGGCTTCGTG	0.706000														19			30		0	0	1	0	0
FAM220A	84792	broad.mit.edu	37	7	6370260	6370260	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:6370260G>A	uc003spu.3	-	1	994	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	FAM220A_uc021zzf.1_Missense_Mutation_p.P176S	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	176						nucleus											AGACCCTTGGGAAAAGCACTT	0.562000														43			36		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872708	55872708	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:55872708C>T	uc010riy.2	+	0	190	c.190C>T	c.(190-192)Ctt>Ttt	p.L64F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTATTTTTTCCTTACTCACCT	0.423000										HNSCC(53;0.14)				161			115		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339333	124339333	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:124339333G>A	uc001lgk.1	+	9	1025	c.919G>A	c.(919-921)Gag>Aag	p.E307K	DMBT1_uc001lgl.1_Missense_Mutation_p.E307K|DMBT1_uc001lgm.1_Missense_Mutation_p.E307K|DMBT1_uc021qaf.1_Missense_Mutation_p.E307K|DMBT1_uc021qag.1_Missense_Mutation_p.E307K|DMBT1_uc021qah.1_Missense_Mutation_p.E307K|DMBT1_uc009xzz.1_Missense_Mutation_p.E307K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.E159K	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	307	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCAGGACATGAGTCCTACCT	0.602000														77			36		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52864331	52864331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:52864331C>T	uc001sal.4	-	5	1209	c.1161G>A	c.(1159-1161)atG>atA	p.M387I		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	387	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R386C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCCTCTGGATCATGCGGTTGA	0.547000														49			28		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800916	93800916	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:93800916G>A	uc001pep.2	+	5	1220	c.1063_splice	c.e5+1	p.A355_splice	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	355	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCACCTACAAGGTAAAAAGGA	0.453000														24			11		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887371	12887371	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:12887371C>T	uc001auk.2	-	2	682	c.486G>A	c.(484-486)gtG>gtA	p.V162V		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	162										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGTCTAGGTTCACCATTTTCA	0.463000														330			53		0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667275	72667275	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:72667275G>A	uc011mqk.2	+	0	186	c.186G>A	c.(184-186)atG>atA	p.M62I		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGCCCAGCATGGATCCTCACT	0.622000														3			19		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873278	173873278	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:173873278G>A	uc003isv.3	+	9	1976	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	414						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTCCACGGGGGACATCTCTGC	0.567000														68			13		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228172615	228172615	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:228172615G>A	uc002vom.2	+	47	4604	c.4442G>A	c.(4441-4443)cGa>cAa	p.R1481Q	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'UTR|COL4A3_uc021vxt.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1481	Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAAATCAACGAGCCCACGGA	0.473000														31			21		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293876	7293876	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:7293876C>T	uc001qss.3	+	7	1936	c.1398C>T	c.(1396-1398)ctC>ctT	p.L466L	CLSTN3_uc001qsr.3_Silent_p.L454L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	454					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCTGAACCTCGAGTTCCCCA	0.567000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		102			111		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286124	62286124	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:62286124G>A	uc001ntl.3	-	4	16065	c.15765C>T	c.(15763-15765)gtC>gtT	p.V5255V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5255					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGGGCATGGACCTCGGCTC	0.522000														82			39		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201850	24201850	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:24201850G>A	uc021oij.1	-	0	258	c.258C>T	c.(256-258)gtC>gtT	p.V86V	CNR2_uc001bif.3_Silent_p.V86V	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	86					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TGCATGCAAAGACCACACTGG	0.532000														38			67		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923502	43923502	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:43923502C>T	uc010wka.2	+	0	1247	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	410						integral to membrane	aspartic-type endopeptidase activity										TTGCCTTGGGCCCTGCAGAGT	0.587000														39			25		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048480	175048480	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:175048480C>T	uc001gkl.1	+	2	534	c.421C>T	c.(421-423)Cac>Tac	p.H141Y	TNN_uc010pmx.1_Missense_Mutation_p.H141Y	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	141					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTAAGCCGCCACTGCAGCGG	0.652000														20			5		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331549	85331549	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:85331549G>A	uc001dkl.2	-	0	294	c.255C>T	c.(253-255)ttC>ttT	p.F85F	LPAR3_uc009wcj.1_Silent_p.F85F	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	85					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TAAACATCAGGAATACATAGG	0.463000														180			32		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104078786	104078786	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:104078786C>T	uc001tjw.3	+	26	3107	c.2921C>T	c.(2920-2922)tCg>tTg	p.S974L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	974	EGF-like 10.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAATCTACTTCGTCTGGTGTC	0.453000														39			42		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56586314	56586314	+	Silent	SNP	C	T	T	rs146293537		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:56586314C>T	uc010xeg.2	+	2	992	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ZNF532_uc002lhp.3_Silent_p.S263S|ZNF532_uc002lho.3_Silent_p.S265S|ZNF532_uc002lhr.3_Silent_p.S263S|ZNF532_uc002lhs.3_Silent_p.S263S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTCGTCCTCCAAGCTCTCGT	0.562000														44			41		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581230	101581230	+	Silent	SNP	G	A	A	rs147034851	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:101581230G>A	uc001thz.4	-	6	1287	c.897C>T	c.(895-897)ctC>ctT	p.L299L		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	299					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATATAGGGCGAGCCCACAAA	0.453000														28			17		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127253091	127253091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:127253091C>T	uc010lld.1	-	5	882	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	PAX4_uc003vmf.2_Missense_Mutation_p.E224K|PAX4_uc003vmg.1_Missense_Mutation_p.E226K|PAX4_uc003vmh.3_Missense_Mutation_p.E224K	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	234					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCTGCATTTCCCACTTGAGC	0.522000														36			11		0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152497641	152497641	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:152497641G>T	uc003wle.1	+	2	243	c.126G>T	c.(124-126)aaG>aaT	p.K42N	ACTR3B_uc003wlf.1_Missense_Mutation_p.K42N|ACTR3B_uc003wlg.1_5'UTR|ACTR3B_uc011kvp.1_Intron	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	42					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AGTCAGCAAAGGTAGTTGACC	0.378000														65			12		1.5842e-08	1.59561e-08	1	1	0
MSRB3	253827	broad.mit.edu	37	12	65857044	65857044	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:65857044C>T	uc001ssn.3	+	5	647	c.521C>T	c.(520-522)aCc>aTc	p.T174I	MSRB3_uc009zqp.3_Missense_Mutation_p.T167I|MSRB3_uc001ssm.3_Missense_Mutation_p.T167I|MSRB3_uc021qzy.1_Missense_Mutation_p.T167I	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	174					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		AGCAGTGGCACCGCCGAGGGA	0.537000														32			36		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401560	89401560	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:89401560G>A	uc010upo.1	+	11	6118	c.5744G>A	c.(5743-5745)aGc>aAc	p.S1915N	ACAN_uc010upp.1_Missense_Mutation_p.S1915N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1915					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGATTGGGAGCAGCCTGCCC	0.522000														40			14		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179305440	179305440	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:179305440C>T	uc003mlh.3	-	9	1686	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	TBC1D9B_uc003mli.3_Missense_Mutation_p.E551K|TBC1D9B_uc003mlj.3_Missense_Mutation_p.E551K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	551	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGATCTCCTCTGTGGCCAGG	0.642000														6			5		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239611	160239611	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:160239611C>T	uc003qsy.1	+	15	1221	c.1182C>T	c.(1180-1182)tcC>tcT	p.S394S	PNLDC1_uc003qsx.1_Silent_p.S383S	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	383						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCGAGTCATCCTTTCCTCAGT	0.567000														74			15		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088127	92088127	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:92088127C>T	uc001pdj.4	+	0	2866	c.2849C>T	c.(2848-2850)cCt>cTt	p.P950L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	950	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGATCTCCCTGTTGGCACT	0.433000										TCGA Ovarian(4;0.039)				44			38		0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416552	62416553	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:62416552_62416553GG>AA	uc001nud.3	-	1	1052_1053	c.999_1000CC>TT	c.(997-1002)tccctt>tcTTtt	p.L334F	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	334					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTGGCCTGAAGGGAGGGGTCCC	0.629000														135			33		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6930341	6930341	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:6930341C>T	uc010clt.1	+	7	1320	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	BCL6B_uc002geg.2_Missense_Mutation_p.R420C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	420						nucleus	zinc ion binding			skin(1)	1						CTGCGGAACCCGCTTCCGCCA	0.637000														17			37		0	0	1	0	0
SDCBP2	27111	broad.mit.edu	37	20	1293297	1293297	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:1293297G>A	uc021vzn.1	-	5	553	c.494C>T	c.(493-495)tCg>tTg	p.S165L	SDCBP2_uc021vzo.1_Missense_Mutation_p.S165L|SDCBP2_uc002weu.4_Missense_Mutation_p.S80L|SDCBP2_uc002wev.4_Missense_Mutation_p.S165L	NM_001199784	NP_001186713	Q9H190	SDCB2_HUMAN	Homo sapiens syndecan binding protein (syntenin) 2 (SDCBP2), transcript variant 3, mRNA.	165	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GGCTTTGTGCGAGCTCCACCC	0.622000														25			38		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140012	3140012	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:3140012C>T	uc002ctv.1	-	4	1346	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	ZSCAN10_uc002cty.1_Missense_Mutation_p.D81N|ZSCAN10_uc002ctw.1_Missense_Mutation_p.D338N|ZSCAN10_uc002ctx.1_Missense_Mutation_p.D348N	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	420					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CACAGGACATCGGTCAGTGGC	0.706000														12			4		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126792924	126792924	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:126792924C>T	uc003kuh.4	+	25	3699	c.3337C>T	c.(3337-3339)Ctg>Ttg	p.L1113L	MEGF10_uc003kui.4_Silent_p.L1113L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1113	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TCATTATGACCTGCTGCCAGT	0.517000														53			41		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1535135	1535135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:1535135G>A	uc003skn.2	-	12	1867	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	589					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCACCAGACGGCATCCCGCTG	0.627000														26			11		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65155440	65155440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:65155440G>A	uc003hcv.3	-	8	929	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	274					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTGTGATTGGGATGAGACAAC	0.274000														18			3		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90049464	90049464	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:90049464C>T	uc003kju.3	+	53	11291	c.11195C>T	c.(11194-11196)tCa>tTa	p.S3732L	GPR98_uc003kjt.3_Missense_Mutation_p.S1438L|GPR98_uc003kjv.3_Missense_Mutation_p.S1332L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3732	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGAGTTATCAGAGGTTGTG	0.378000														55			25		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207369	58207369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:58207369C>T	uc010rkh.2	-	0	278	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATTTGTCTCCTGTGAGAAAC	0.453000														45			25		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348412	150348412	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:150348412C>T	uc010ntg.2	+	1	495	c.357C>T	c.(355-357)atC>atT	p.I119I	GPR50_uc011myc.2_Silent_p.I119I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	119					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCAACATCGTGGCAATCG	0.542000														13			69		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53228033	53228033	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:53228033G>A	uc001sbb.3	-	0	45	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	4	Head.					keratin filament	structural molecule activity	p.S3P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCGAGAGACGGAGGACCTCA	0.617000														22			9		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81613796	81613796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:81613796G>A	uc001szl.1	+	10	1546	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	ACSS3_uc001szm.1_Missense_Mutation_p.M484I|ACSS3_uc001szn.1_Missense_Mutation_p.M167I	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	485						mitochondrion	ATP binding|acetate-CoA ligase activity	p.M485V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTGTAGTTATGATTTTGGATG	0.254000														15			17		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890636	55890636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:55890636G>A	uc001nii.1	+	0	788	c.788G>A	c.(787-789)aGa>aAa	p.R263K		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTAAAGCCAAGAAAGTCTTAT	0.388000														42			21		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554586	150554586	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150554586G>A	uc003why.1	+	2	5246	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	ABP1_uc003whz.1_Missense_Mutation_p.G343E|ABP1_uc003wia.1_Missense_Mutation_p.G343E	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	343					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACTTCGGCGGAGAGCGCATT	0.632000														52			44		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894476	123894476	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:123894476C>T	uc010sad.2	+	0	757	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTTTTTGTTCCCTGTGTTTT	0.537000														68			36		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518733	113518733	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:113518733G>A	uc010ljy.1	-	3	2445	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	805					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCTAAACGTGATTCCTTTTC	0.383000														40			26		0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82441737	82441737	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:82441737T>A	uc011lfp.2	-	1	182	c.182A>T	c.(181-183)aAt>aTt	p.N61I	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	61							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GGAGATCTCATTATTTTTAAA	0.438000														36			31		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123982628	123982628	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:123982628G>A	uc003ktq.1	-	3	3632	c.3449C>T	c.(3448-3450)tCg>tTg	p.S1150L	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S1150L|ZNF608_uc003ktt.1_Missense_Mutation_p.S1150L|ZNF608_uc003ktp.1_5'Flank	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	1150						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GATTGTGGCCGATGGCATATT	0.468000														56			30		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644928	35644928	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:35644928C>T	uc021rid.1	+	9	2044	c.1510C>T	c.(1510-1512)Cca>Tca	p.P504S	NBEA_uc021ric.1_Missense_Mutation_p.P504S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	504						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTGCTTTTTCCACTTTTTGC	0.343000														43			57		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420774	11420774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:11420774G>A	uc001qzs.3	-	2	447	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	137	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.			R -> H (in Ref. 1; CAA30728).		extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGCGGGGGA	0.647000														99			29		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468605	6468605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:6468605C>T	uc002mfe.3	-	20	1659	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	DENND1C_uc002mfb.3_Missense_Mutation_p.E73K|DENND1C_uc002mfc.3_Missense_Mutation_p.E73K|DENND1C_uc002mfd.3_Missense_Mutation_p.E73K|DENND1C_uc010xje.2_Missense_Mutation_p.E479K	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	523						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCTGGGGGCTCGGAAGTTCCC	0.632000														2			4		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454540	84454540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:84454540G>A	uc001vlk.3	-	0	1989	c.1103C>T	c.(1102-1104)gCt>gTt	p.A368V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	368	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTCAAATCAGCCAAGCTGCT	0.502000														64			34		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310306	178310306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:178310306C>T	uc003mjl.3	+	4	1079	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F	ZNF354B_uc003mjm.3_Missense_Mutation_p.L285F	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	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)			TAGTGCATCCCTTTGTAAGCA	0.388000														32			25		0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46925443	46925443	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:46925443C>T	uc010wlr.2	+	3	349	c.270C>T	c.(268-270)acC>acT	p.T90T	CALCOCO2_uc010wlq.2_5'UTR|CALCOCO2_uc010wls.2_Silent_p.T66T|CALCOCO2_uc002iof.3_Silent_p.T66T|CALCOCO2_uc010wlp.2_Silent_p.T87T	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	66					response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GGAAGACAACCCGTGAGTATT	0.413000														20			17		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100015	168100015	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:168100015G>A	uc002udx.3	+	8	2202	c.2113G>A	c.(2113-2115)Gga>Aga	p.G705R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G530R|XIRP2_uc010fpq.3_Missense_Mutation_p.G483R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	530					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATCAACTTGGACAGCTTCA	0.383000														60			44		0	0	1	0	0
ZNF396	252884	broad.mit.edu	37	18	32949320	32949320	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:32949320G>C	uc010xcf.1	-	3	999	c.867C>G	c.(865-867)agC>agG	p.S289R		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	Homo sapiens zinc finger protein 396 (ZNF396), mRNA.	289					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F288S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTGCGCTTCGGCTGAATGCCT	0.453000														36			22		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17083837	17083837	+	Missense_Mutation	SNP	T	C	C	rs7798	by1000genomes	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:17083837T>C	uc010ock.2	-	14	1960	c.1960A>G	c.(1960-1962)Aaa>Gaa	p.K654E	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.K254E					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						CTAATTCCTTTCAGGACCCAG	0.572000														31			6		0	0	1	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61917767	61917767	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:61917767C>T	uc002yem.3	+	11	996	c.884C>T	c.(883-885)tCg>tTg	p.S295L	ARFGAP1_uc011aas.1_Missense_Mutation_p.S250L|ARFGAP1_uc011aat.1_Missense_Mutation_p.S182L|ARFGAP1_uc002yel.3_Missense_Mutation_p.S303L|ARFGAP1_uc002yen.3_Missense_Mutation_p.R375W|ARFGAP1_uc002yeo.1_Non-coding_Transcript|MIR4326_uc021wgb.1_5'Flank	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	295					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					ACCTTTTTTTCGGGGAAAGCA	0.627000														53			9		0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43329747	43329747	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:43329747G>A	uc010dnk.3	+	10	1391	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	SLC14A1_uc002lbi.4_Missense_Mutation_p.G202E|SLC14A1_uc010xcn.2_Missense_Mutation_p.G334E|SLC14A1_uc002lbf.4_Missense_Mutation_p.G334E|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.G229E|SLC14A1_uc002lbh.4_Missense_Mutation_p.G226E|SLC14A1_uc002lbj.4_Missense_Mutation_p.G390E|SLC14A1_uc002lbk.4_Missense_Mutation_p.G334E|SLC14A1_uc021ujg.1_Missense_Mutation_p.D285N	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	334						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCCCAGGTTGGATTGCCAGCT	0.512000														48			28		0	0	1	0	0
CT45A5	441521	broad.mit.edu	37	X	134947928	134947928	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:134947928C>T	uc004eze.3	-	2	642	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	CT45A5_uc022ces.1_Missense_Mutation_p.E133K|CT45A5_uc011mvu.2_Missense_Mutation_p.E133K	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	133								p.E133*(2)		endometrium(1)|large_intestine(2)|lung(6)	9						CATCGGATTTCCTTCACTACT	0.388000														15			43		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179567	65179567	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:65179567C>A	uc002lke.1	-	1	3533	c.2309G>T	c.(2308-2310)aGa>aTa	p.R770I	DSEL_uc021ulg.1_Missense_Mutation_p.R770I	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	760						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCTATCATGTCTTACAGGCTT	0.378000														32			24		6.32553e-13	6.39121e-13	1	1	0
HEPHL1	341208	broad.mit.edu	37	11	93803566	93803566	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:93803566G>A	uc001pep.2	+	5	1247	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	364	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATACAATGTTGATAACTGCAA	0.413000														8			5		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685187	100685187	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:100685187C>T	uc003uxp.1	+	2	10543	c.10490C>T	c.(10489-10491)tCa>tTa	p.S3497L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3497	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAACCAATTCATCTCCTACA	0.522000														276			177		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482354	76482354	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:76482354G>A	uc010dhp.2	-	44	7178	c.7053C>T	c.(7051-7053)ttC>ttT	p.F2351F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGAACACGAAGTACAGCT	0.627000														19			31		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40934527	40934527	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:40934527C>T	uc003jmh.3	+	3	353	c.239C>T	c.(238-240)cCa>cTa	p.P80L	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	80	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGAGGATGTCCAACAGAGGAG	0.468000														97			34		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097756	167097756	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:167097756G>A	uc001geb.1	+	4	3404	c.3388G>A	c.(3388-3390)Gaa>Aaa	p.E1130K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1130					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGGAAGAGGAAGAAATGGA	0.527000														15			31		0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	153000417	153000417	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:153000417A>T	uc002tyc.4	-	6	978	c.628T>A	c.(628-630)Tta>Ata	p.L210I	STAM2_uc010foa.1_Missense_Mutation_p.L210I|STAM2_uc002tyd.3_Missense_Mutation_p.L210I	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	210	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAATCATATAAAGCTCTCACT	0.333000														23			23		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736883	4736883	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:4736883C>T	uc001qnb.4	-	3	1429	c.1185G>A	c.(1183-1185)agG>agA	p.R395R		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	395					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTTGGGCTTTCCTGACATGCT	0.433000														43			36		0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817136	4817136	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:4817136G>A	uc002mbi.3	-	1	1505	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A	TICAM1_uc021unj.1_Silent_p.A418A	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	418	TIR.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCACGCCAAGGGCCTCCAGCT	0.612000														36			19		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140806	143140806	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:143140806C>T	uc011ktg.2	+	0	261	c.261C>T	c.(259-261)ttC>ttT	p.F87F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	87					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CGATGGCCTTCCCATACAACC	0.478000														83			26		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18109092	18109092	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:18109092C>T	uc002nht.3	+	10	1819	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	ARRDC2_uc002nhu.3_5'Flank	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	503					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CTGGCCTCATCGCCCAAGCCA	0.741000														2			5		0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31747065	31747065	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:31747065G>A	uc003nxe.3	-	28	3828	c.3405C>T	c.(3403-3405)ttC>ttT	p.F1135F	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Silent_p.F72F	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1135					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CCACTTCCAGGAAACCTGCCA	0.662000														20			18		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602305	58602305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:58602305C>T	uc001nnd.4	-	5	613	c.482G>A	c.(481-483)gGa>gAa	p.G161E	GLYATL2_uc009ymq.3_Missense_Mutation_p.G161E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	161						mitochondrion	glycine N-acyltransferase activity	p.E160K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGAAAAGTTTCCTTCCCTGTG	0.348000														18			13		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275658	16275658	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:16275658C>T	uc002nds.3	-	4	413	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CIB3_uc010eae.3_Missense_Mutation_p.G77E|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.G89E	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	138	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						ACTCAGCCCCCCCCGCGTCAG	0.577000														54			32		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25917006	25917006	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:25917006G>A	uc011dkb.2	-	6	920	c.837C>T	c.(835-837)ttC>ttT	p.F279F	SLC17A2_uc011dkc.2_Silent_p.F279F|SLC17A2_uc003nfl.3_Silent_p.F279F			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	279					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAAAACCCAGGAAAATGGCCC	0.448000														34			49		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48255617	48255617	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:48255617C>T	uc002lev.3	+	5	2157	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	MAPK4_uc010xdm.2_Missense_Mutation_p.S175L|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	386					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGCGCGGGTTCGGCGCCACTG	0.697000														33			30		0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877562	96877562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:96877562C>T	uc010uri.2	+	1	1924	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	NR2F2_uc002btp.3_Missense_Mutation_p.P101S|NR2F2_uc010urj.2_Missense_Mutation_p.P81S|NR2F2_uc010urk.2_Missense_Mutation_p.P81S	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	234	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.P234P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCCCTTCTTCCCCGACCTGCA	0.617000														74			52		0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32745777	32745777	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:32745777G>A	uc001bux.3	+	11	1431	c.1293G>A	c.(1291-1293)acG>acA	p.T431T	LCK_uc001buy.3_Silent_p.T431T|LCK_uc001buz.3_Silent_p.T461T|LCK_uc010ohc.1_Silent_p.T475T|LCK_uc001bva.3_Silent_p.T438T	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	431	Protein kinase.				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	TCCTGCTGACGGAAATTGTCA	0.517000			T	TRB@	T-ALL									22			40		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	549181	549181	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:549181G>A	uc003mtd.3	-	21	2366	c.2232C>T	c.(2230-2232)atC>atT	p.I744I	EXOC2_uc003mte.3_Silent_p.I744I|EXOC2_uc011dho.2_Silent_p.I339I	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	744					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTACCTGTGTGATTTTTTCTA	0.413000														124			40		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205814611	205814611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:205814611G>A	uc001hdj.3	-	2	407	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	111						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCCGAGCCTTGGATAGTGAAC	0.542000														125			28		0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892258	90892258	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:90892258C>T	uc010uqf.2	-	0		c.422G>A								Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA.																		TAGAACTGGCCATCGGTAAGG	0.507000														10			12		0	0	1	0	0
LOC399753	399753	broad.mit.edu	37	10	49239448	49239448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:49239448C>T	uc001jgd.3	-	0	211	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K						Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TCACCAACTTCAACAGTCACC	0.577000														69			31		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31317540	31317540	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:31317540C>T	uc003jhe.2	+	9	1931	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	CDH6_uc003jhd.2_Missense_Mutation_p.S524L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	524	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACCAATTTTCGTTTTCCTTG	0.403000														62			12		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535074	50535074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:50535074C>T	uc001zxz.3	-	11	1714	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	HDC_uc001zxy.3_Missense_Mutation_p.D201N|HDC_uc010uff.2_Missense_Mutation_p.D425N	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	458					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGGATGTCATCCCTAGTGGTA	0.507000														26			28		0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	640424	640424	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:640424T>C	uc021szt.1	+	1	355	c.133T>C	c.(133-135)Tac>Cac	p.Y45H	RAB40C_uc021szu.1_Missense_Mutation_p.Y45H|RAB40C_uc021szv.1_Missense_Mutation_p.Y45H|RAB40C_uc002chq.3_Missense_Mutation_p.Y45H|RAB40C_uc002chr.3_Missense_Mutation_p.Y45H	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	45					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCCGTACGCCTACAGTAACGG	0.726000														18			6		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20490460	20490460	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:20490460C>T	uc003gpr.1	+	7	834	c.630C>T	c.(628-630)aaC>aaT	p.N210N	SLIT2_uc003gps.1_Silent_p.N210N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	210	LRRCT 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATTCAAACAACCTGTATTGTG	0.448000														89			91		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148955	34148955	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:34148955C>T	uc004ddg.3	-	0	1493	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	481										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGATGTTCCGGGTGGGGA	0.622000														10			39		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31251711	31251711	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:31251711G>A	uc010dmg.1	+	7	651	c.596_splice	c.e7-1	p.G199_splice	ASXL3_uc002kxq.2_Splice_Site	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTTTTTTAGGATCTGAATCT	0.323000														12			10		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3672567	3672567	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:3672567C>T	uc002wja.3	-	15	4313	c.4313G>A	c.(4312-4314)gGg>gAg	p.G1438E	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G1438E|SIGLEC1_uc002wjb.1_Missense_Mutation_p.G77E	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1438	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGCAACCGCCCGATGGTGCT	0.597000														31			31		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4328766	4328767	+	Silent	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:4328766_4328767GG>AA	uc002mab.3	-	5	686_687	c.495_496CC>TT	c.(493-498)ctcctg>ctTTtg	p.165_166LL>LL	STAP2_uc002mac.3_Silent_p.165_166LL>LL|STAP2_uc021unb.1_Silent_p.165_166LL>LL|STAP2_uc021unc.1_Silent_p.165_166LL>LL|STAP2_uc002mad.3_Silent_p.58_59LL>LL	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	165	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCGCTCCAGGAGCAGTTGTG	0.703000														6			6		0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33391261	33391261	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:33391261G>A	uc011dri.2	+	1	270	c.75G>A	c.(73-75)cgG>cgA	p.R25R	SYNGAP1_uc003oeo.1_Silent_p.R10R|SYNGAP1_uc010juy.3_Silent_p.R10R	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	25					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGATGTACGGGGACCCTCTA	0.522000														112			61		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484989	97484989	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:97484989G>A	uc001vmw.3	+	1	977	c.953G>A	c.(952-954)aGc>aAc	p.S318N		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	318						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GCTGACCTCAGCCTGGTGGGC	0.512000														40			45		0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47143405	47143405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:47143405G>A	uc002eer.2	-	6	1285	c.872C>T	c.(871-873)tCc>tTc	p.S291F	NETO2_uc002eeq.2_Missense_Mutation_p.S64F|NETO2_uc010vgf.2_Missense_Mutation_p.S284F	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	291	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CTCCACAAAGGAAGTAAAGAG	0.353000										HNSCC(25;0.065)				40			24		0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733173	52733173	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:52733173C>T	uc003xqx.4	-	5	1153	c.812G>A	c.(811-813)aGg>aAg	p.R271K	PCMTD1_uc011ldm.2_Missense_Mutation_p.R141K|PCMTD1_uc011ldn.2_Missense_Mutation_p.R83K|PCMTD1_uc010lya.3_Missense_Mutation_p.R195K	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	271						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.R271M(4)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGGTGGAGCCCTTTGAGGAAT	0.423000														144			11		0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205426	88205426	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:88205426C>T	uc003dqw.3	+	2	941	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	211					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGAAGAATTTCTTTTTCTCAG	0.428000														65			36		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067958	190067958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:190067958C>T	uc001gse.1	-	7	1723	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	FAM5C_uc010pot.1_Missense_Mutation_p.M395I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	497						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGATATTTCATCTCGAGAT	0.498000														70			142		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621461	32621461	+	Silent	SNP	G	A	A	rs114216543	by1000genomes	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:32621461G>A	uc003xiv.2	+	11	1981	c.1464G>A	c.(1462-1464)gaG>gaA	p.E488E	NRG1_uc022ats.1_Silent_p.E438E|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Silent_p.E493E|NRG1_uc003xiw.2_Silent_p.E485E|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Silent_p.E230E|NRG1_uc010lvs.2_Silent_p.E230E|NRG1_uc010lvp.2_Silent_p.E442E|NRG1_uc010lvq.2_Silent_p.E418E|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Silent_p.E331E|NRG1_uc003xja.2_Silent_p.E299E	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	488					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGCTGCGGGAGAAGAAGTTTG	0.577000														63			18		0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110604121	110604121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:110604121C>T	uc001dzb.3	-	2	747	c.659G>A	c.(658-660)gGg>gAg	p.G220E		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGGTTCCGCCCCTCCTGGAT	0.622000														99			22		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796761	109796761	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:109796761G>A	uc003ymy.1	-	1	672	c.567C>T	c.(565-567)atC>atT	p.I189I	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.I189I	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	189					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TCACGAGCAGGATCCCAGTGA	0.527000														46			22		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51988145	51988145	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:51988145G>A	uc002abh.3	+	7	1345	c.942G>A	c.(940-942)gtG>gtA	p.V314V	SCG3_uc010ufz.2_Silent_p.V82V	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	314					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGATGATGGTGAAATATGGAA	0.313000														71			23		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916378	10916378	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:10916378G>A	uc002yip.1	-	19	1636	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.S405L|TPTE_uc002yir.1_Missense_Mutation_p.S385L|TPTE_uc010gkv.1_Missense_Mutation_p.S285L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	423	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S405L(2)		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)		ACGAGGAATCGAATAAATAAT	0.388000														57			10		0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10532349	10532349	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:10532349C>T	uc009zhj.3	-	3	368	c.191G>A	c.(190-192)gGa>gAa	p.G64E	AK096314_uc001qya.1_Non-coding_Transcript|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Missense_Mutation_p.G64E|KLRK1_uc009zhk.3_Missense_Mutation_p.G64E|KLRK1_uc001qyd.3_Missense_Mutation_p.G64E	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	64					T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding	p.M63I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						GAAACGGATTCCCATGGCTAC	0.363000														9			15		0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101339918	101339918	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:101339918A>G	uc001dtk.1	-	4	910	c.573T>C	c.(571-573)agT>agC	p.S191S	EXTL2_uc001dtl.1_Silent_p.S191S|EXTL2_uc010ouk.1_Silent_p.S178S|EXTL2_uc001dtm.1_Silent_p.S190S	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.	191					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AACTTCCATAACTGTAGATAC	0.383000														16			33		0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49066696	49066696	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:49066696G>A	uc003cvt.3	-	0	180	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	IMPDH2_uc010hkp.1_Missense_Mutation_p.L100F	NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	30					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TTGTAGGTGAGGCCGTCTCCG	0.647000														12			4		0	0	1	0	0
TMEM65	157378	broad.mit.edu	37	8	125335573	125335573	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:125335573G>A	uc010mdl.3	-	3	1003	c.461C>T	c.(460-462)tCa>tTa	p.S154L		NM_194291	NP_919267	Q6PI78	TMM65_HUMAN	Homo sapiens transmembrane protein 65 (TMEM65), mRNA.	154						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCCATAGTTGAAATTCCCAA	0.254000														13			3		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159601	94159601	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:94159601G>A	uc011cdt.2	+	7	1463	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E	GRID2_uc011cdu.2_Missense_Mutation_p.G307E|GRID2_uc010ikz.1_Missense_Mutation_p.G83E	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	402					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAATCCTTGGAACCAACTAT	0.413000														70			11		0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21141180	21141180	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:21141180G>A	uc002ztc.2	+	3	1413	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Silent_p.T442T	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	442					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACCAAGGCACGATCACAGTGA	0.547000														55			48		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37267588	37267588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:37267588C>T	uc001caz.2	-	15	2759	c.2624G>A	c.(2623-2625)cGa>cAa	p.R875Q		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	875					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTGCTTGACTCGACGCTGGCA	0.592000														62			8		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32372983	32372983	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:32372983G>A	uc003obg.1	-	1	160	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	54	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GTCCTCTTGGGGAGTAGCTGG	0.532000														91			44		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965702	127965702	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:127965702A>T	uc003eki.3	+	1	378	c.340A>T	c.(340-342)Atg>Ttg	p.M114L		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	114						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGATCTGATGATGCTGGTCAT	0.542000														136			94		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542279	133542279	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:133542279G>A	uc002ttp.3	-	13	2479	c.2105C>T	c.(2104-2106)cCt>cTt	p.P702L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	702							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGTCCAGCAGGAGTTGAATT	0.448000														64			49		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349367	100349367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:100349367C>T	uc003uwj.3	+	13	1804	c.1639C>T	c.(1639-1641)Cca>Tca	p.P547S	ZAN_uc003uwk.3_Missense_Mutation_p.P547S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	547					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCCGTATCTCCAGTTTCTTC	0.453000														32			28		0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65425951	65425951	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:65425951G>A	uc010ron.2	-	7	857	c.717C>T	c.(715-717)ttC>ttT	p.F239F	RELA_uc001off.3_Silent_p.F228F|RELA_uc001ofh.3_Silent_p.F225F|RELA_uc001ofg.3_Silent_p.F228F|RELA_uc021qlq.1_Silent_p.F228F|RELA_uc009yqr.3_Silent_p.F175F|RELA_uc001ofe.2_Silent_p.F228F|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	228	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTGGTCCCGTGAAATACACCT	0.587000														34			23		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536850	146536850	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:146536850C>T	uc003weu.2	+	2	772	c.256C>T	c.(256-258)Cag>Tag	p.Q86*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	86	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAATGGCTTCAGGTTGACTT	0.473000										HNSCC(39;0.1)				46			24		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762806	138762806	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:138762806G>A	uc011bmt.1	-	0	929	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	219	Pro-rich.									breast(2)|lung(7)|skin(2)	11						CCAGAAGATGGAATTCCAGGT	0.672000														15			8		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485487	60485487	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:60485487G>A	uc002ybn.2	+	8	1286	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	CDH4_uc002ybr.2_Missense_Mutation_p.E363K|CDH4_uc002ybp.2_Missense_Mutation_p.E326K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	400	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTTTGCAGGGGAGGTCCCCGA	0.512000														29			14		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454755	84454755	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:84454755C>T	uc001vlk.3	-	0	1774	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	296						integral to membrane		p.E296D(2)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGGCATGATCCTCTTGCCCAT	0.552000														34			15		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69434172	69434172	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:69434172G>A	uc010lyz.3	+	5	1195	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	C8orf34_uc010lyy.2_Missense_Mutation_p.E302K|C8orf34_uc003xyb.3_Missense_Mutation_p.E191K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	216					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGACCAATGGGAAAGTGAAGA	0.418000														30			18		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121725893	121725893	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:121725893C>T	uc003ees.3	-	1	377	c.174G>A	c.(172-174)gtG>gtA	p.V58V	ILDR1_uc003eeq.3_Silent_p.V70V|ILDR1_uc003eer.3_Silent_p.V58V|ILDR1_uc010hrg.3_Silent_p.V58V	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	58	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		AGCGCCATGTCACCACCACGT	0.542000														29			29		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126062	29126062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:29126062G>A	uc002kwu.4	+	14	2901	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	905					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E905K(2)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGTAACTCAGGAAATAGTCAC	0.433000														51			31		0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869266	36869266	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:36869266G>A	uc002xhy.1	-	2	1539	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	KIAA1755_uc002xhz.1_Missense_Mutation_p.P423S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	423								p.P423P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GACAGGCGGGGAGAGGAGGCT	0.562000														71			11		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112528546	112528546	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:112528546G>A	uc001ttm.3	-	2	325	c.267C>T	c.(265-267)taC>taT	p.Y89Y	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.Y61Y|NAA25_uc009zwa.2_Silent_p.Y89Y	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	89						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCATCTCCCGGTAAAGGATAG	0.438000														38			28		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238045787	238045787	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:238045787C>T	uc001hym.3	-	11	1845	c.1558G>A	c.(1558-1560)Gcc>Acc	p.A520T	LOC100130331_uc010pyc.2_Non-coding_Transcript	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	520					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACTAACAAGGCTCCAAGGATT	0.468000														46			89		0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1874426	1874426	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:1874426G>A	uc001lui.3	+	1	228	c.53_splice	c.e1+1	p.G18_splice		NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	18					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGAGTTGCTGGGGTAAGGGTC	0.667000														20			10		0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30920202	30920202	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:30920202C>T	uc003nsg.2	+	1	3961	c.3961C>T	c.(3961-3963)Cct>Tct	p.P1321S		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	445						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TGATTCATTCCCTGCATGGGC	0.502000														55			34		0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37420601	37420601	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:37420601G>A	uc002hrt.3	-	13	1284	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	FBXL20_uc010cvu.3_Missense_Mutation_p.R312C	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	344						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			CCCAGGTGACGAATTCCATCA	0.517000														36			21		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1488578	1488578	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:1488578C>T	uc002qwr.3	+	8	1635	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.L517L|TPO_uc002qwx.3_Silent_p.L517L|TPO_uc002qwu.3_Silent_p.L517L|TPO_uc010yio.2_Silent_p.L344L|TPO_uc010yip.2_Silent_p.L517L|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	517					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTGCCCGGGCTGTGGCTGCA	0.627000														45			12		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3861160	3861160	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:3861160G>A	uc003smx.3	+	4	931	c.792G>A	c.(790-792)gtG>gtA	p.V264V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	264	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCAGGCCGTGAATGAGAAAA	0.443000														57			30		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956220	55956220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:55956220C>T	uc003has.3	-	22	3397	c.3095G>A	c.(3094-3096)cGa>cAa	p.R1032Q	KDR_uc003hat.1_Missense_Mutation_p.R1032Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032Q(4)|p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGATATTTCGTGCCGCCAG	0.448000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				23			40		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149355	41149355	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:41149355C>T	uc003jmk.2	-	16	2821	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	C6_uc003jml.1_Missense_Mutation_p.E871K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	871	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E871K(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GAACATTTTTCCCAGTCATAG	0.418000														187			81		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8639258	8639258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:8639258C>T	uc002wnb.3	+	8	772	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	PLCB1_uc010zrb.1_Missense_Mutation_p.R156W|PLCB1_uc002wna.3_Missense_Mutation_p.R257W|PLCB1_uc002wnc.1_Missense_Mutation_p.R156W	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	257					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCGAGATCCTCGGCTTAATGA	0.383000														56			16		0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382460	101382460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:101382460G>A	uc022car.1	+	0	658	c.658G>A	c.(658-660)Gac>Aac	p.D220N	TCEAL2_uc004eip.3_Missense_Mutation_p.D220N	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CCCACGAAGGGACACTGAAGA	0.488000														16			60		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65528648	65528648	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:65528648C>T	uc003xvj.2	-	2	654	c.450G>A	c.(448-450)ttG>ttA	p.L150L		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	150					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.S149F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGAGTATGTCCAAAGATTTGC	0.373000														27			13		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95335855	95335855	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:95335855C>T	uc010qnt.2	+	1	631	c.575C>T	c.(574-576)tCg>tTg	p.S192L	O3FAR1_uc010qnu.2_Missense_Mutation_p.S192L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	192					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						TAGGAAATTTCGATTTGCACA	0.438000														19			24		0	0	1	0	0
CFL1	1072	broad.mit.edu	37	11	65623182	65623182	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:65623182G>A	uc001ofs.3	-	2	862	c.331C>T	c.(331-333)Ctt>Ttt	p.L111F	CFL1_uc001oft.3_Missense_Mutation_p.L111F	NM_005507	NP_005498	P23528	COF1_HUMAN	Homo sapiens cofilin 1 (non-muscle) (CFL1), mRNA.	111	ADF-H.				Rho protein signal transduction|actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TTGCTCTTAAGGGGCGCAGAC	0.562000														19			17		0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205951	70205951	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:70205951C>T	uc002lku.2	-	2	649	c.414G>A	c.(412-414)ccG>ccA	p.P138P	CBLN2_uc002lkv.2_Silent_p.P138P	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	138	C1q.					integral to membrane		p.P138Q(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TCCCTTTTCTCGGTGCTACAA	0.428000														43			27		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96924450	96924450	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:96924450G>A	uc001yfn.2	+	11	1302	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	420	Adenylate kinase.|Poly-Glu.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CGATGTaggggaaggagaaga	0.502000														7			20		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992707	176992707	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:176992707C>T	uc001glc.3	-	7	1483	c.1271_splice	c.e7-1	p.G424_splice	ASTN1_uc001glb.1_Splice_Site_p.G424_splice|ASTN1_uc001gld.1_Splice_Site_p.G424_splice|ASTN1_uc009wwx.1_Splice_Site_p.G424_splice|ASTN1_uc001gle.4_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	424					cell migration|neuron cell-cell adhesion	integral to membrane		p.G424V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGCGGCTCCCTGCAGGGTG	0.552000														17			23		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052934	90052934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:90052934G>A	uc003kju.3	+	56	11992	c.11896G>A	c.(11896-11898)Gac>Aac	p.D3966N	GPR98_uc003kjt.3_Missense_Mutation_p.D1672N|GPR98_uc003kjv.3_Missense_Mutation_p.D1566N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3966	Calx-beta 26.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCCTGGAAGACTTTAAACC	0.428000														19			11		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627211	31627211	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:31627211C>T	uc010zuc.2	+	9	959	c.959C>T	c.(958-960)cCt>cTt	p.P320L	BPIFB6_uc010zud.2_Missense_Mutation_p.P259L	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	320						extracellular region	lipid binding										ATAAAGAAGCCTCCCAAGGTC	0.547000														162			38		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79213160	79213160	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:79213160T>C	uc001vkw.1	-	3	406	c.347A>G	c.(346-348)aAa>aGa	p.K116R	RNF219_uc010afb.1_5'UTR	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	116							zinc ion binding	p.S115C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GCTGAGATTTTTACTCTTAAG	0.378000														35			43		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262158	43262158	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:43262158G>A	uc002ouo.2	-	2	803	c.705C>T	c.(703-705)ctC>ctT	p.L235L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Silent_p.L235L|PSG8_uc010ein.3_Silent_p.L113L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	235						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACTCACGGAGGAGATTCAGGG	0.522000														202			127		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421006	55421006	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:55421006G>A	uc001sgp.4	+	1	1161	c.783G>A	c.(781-783)ggG>ggA	p.G261G	NEUROD4_uc021qyr.1_Silent_p.G261G	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	261					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S260N(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GCATCAGTGGGAACTTCTCCT	0.502000														71			34		0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713877	30713877	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:30713877C>T	uc003ceo.3	+	3	1584	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	TGFBR2_uc021wut.1_Missense_Mutation_p.S279F|TGFBR2_uc003cen.3_Missense_Mutation_p.S426F	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	401	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTTGGGCTTTCCCTGCGTCTG	0.552000														153			106		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34042431	34042431	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:34042431G>A	uc001zhi.3	+	56	8413	c.8343G>A	c.(8341-8343)cgG>cgA	p.R2781R	RYR3_uc010bar.3_Silent_p.R2781R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2781	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2781W(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAAGGACCGGGAGAAGGCAC	0.517000														7			3		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3855603	3855603	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:3855603C>T	uc022aqr.1	-	4	1030	c.640G>A	c.(640-642)Ggg>Agg	p.G214R		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	214	CUB 2.					integral to membrane		p.G214R(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGCTGGTCCCGCGTAAGGTT	0.572000														7			3		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46146020	46146020	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:46146020C>T	uc002ldd.3	+	2	443	c.84C>T	c.(82-84)atC>atT	p.I28I	CTIF_uc002ldc.3_Silent_p.I28I	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	28	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGCGCTTCATCGACAGCTACG	0.637000														10			3		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496162	9496162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:9496162C>T	uc002wni.2	+	1	622	c.127C>T	c.(127-129)Cct>Tct	p.P43S	LAMP5_uc010zrc.2_Missense_Mutation_p.P43S	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	43						integral to membrane											TTCCACTAACCCTGAAAAAGA	0.438000														50			22		0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385295	141385295	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:141385295G>A	uc003vwk.3	-	2	510	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	170										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GGTTCTCCAAGAAGTGCATGT	0.587000														106			60		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55072900	55072900	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:55072900C>T	uc001cxm.2	+	13	1640	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	ACOT11_uc001cxj.2_Silent_p.F366F|ACOT11_uc001cxl.2_Silent_p.F488F	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	488	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCAGGACTTCGTGATCCTGG	0.627000														28			57		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39153643	39153643	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:39153643G>A	uc003jls.3	-	1	1266	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	FYB_uc003jlt.3_Missense_Mutation_p.P400L|FYB_uc003jlu.3_Missense_Mutation_p.P400L|FYB_uc011cpl.2_Missense_Mutation_p.P410L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	400	Interaction with SKAP1.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTGGCTGGCCGGATGGGATGG	0.493000														128			42		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729151	196729151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:196729151C>T	uc002utj.4	-	40	7329	c.7228G>A	c.(7228-7230)Gaa>Aaa	p.E2410K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2410	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGACATCTTCCAGAAAAGAC	0.393000														39			18		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422829	42422829	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:42422829C>T	uc003bbt.3	+	5	668	c.574C>T	c.(574-576)Cca>Tca	p.P192S	WBP2NL_uc011apk.2_Missense_Mutation_p.P64S|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	192	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						ATACGGAGCCCCACCTGCAGG	0.532000														37			79		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38425169	38425169	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:38425169G>A	uc003jlc.2	+	12	2131	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G	EGFLAM_uc003jlb.2_Silent_p.G595G|EGFLAM_uc003jle.2_Silent_p.G361G|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	595	EGF-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTCCCCTTGGGTTTAAAGGTC	0.463000														178			56		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141242887	141242887	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:141242887G>A	uc003llp.3	-	2	3126	c.3009C>T	c.(3007-3009)ttC>ttT	p.F1003F	PCDH1_uc011dbf.2_Silent_p.F981F|PCDH1_uc003llq.3_Silent_p.F1003F	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	1003					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CGGTGCCCACGAATGTGTTTG	0.622000														28			14		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462952	37462952	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:37462952C>T	uc003aqt.1	-	17	2292	c.2230G>A	c.(2230-2232)Gac>Aac	p.D744N	TMPRSS6_uc003aqs.1_Missense_Mutation_p.D731N	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	731	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.R744L(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGCACAGGTCCTGTGGGATC	0.617000														10			18		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951871	73951871	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:73951871G>A	uc003pgo.3	-	3	922	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Missense_Mutation_p.R68C	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	141	KH; atypical.					integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						ACAGTCACACGAGTCTGGCCT	0.542000														15			24		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79428633	79428633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:79428633C>T	uc002kaf.2	+	24	6758	c.6758C>T	c.(6757-6759)tCc>tTc	p.S2253F	BAHCC1_uc002kae.2_Missense_Mutation_p.S1545F	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2315							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)			GCCCGCCTGTCCGTGtcctct	0.692000														1			2		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672710	141672710	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:141672710G>A	uc003vwx.1	-	0	864	c.780C>T	c.(778-780)tcC>tcT	p.S260S		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	260					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S259L(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGGCAGCACAGGATGATATCA	0.502000														40			27		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23524449	23524449	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:23524449G>A	uc003jgo.3	+	9	1139	c.957G>A	c.(955-957)gtG>gtA	p.V319V		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	319	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y318F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAGGTATGTGAACTGTGCCC	0.542000										HNSCC(3;0.000094)				52			22		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278490	50278490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:50278490G>A	uc002lfe.2	+	1	774	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	53	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTCACAATGCGGGGAGGAAAT	0.502000														27			25		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321331	46321331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:46321331G>A	uc001rox.3	-	10	2440	c.2153C>T	c.(2152-2154)cCt>cTt	p.P718L	SCAF11_uc001row.3_Missense_Mutation_p.P403L|SCAF11_uc001roy.1_Missense_Mutation_p.P792L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	718					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACACTCCATAGGTATCATTTC	0.363000														43			66		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467458	74467458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:74467458C>T	uc002axg.1	+	1	541	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	ISLR_uc002axh.1_Missense_Mutation_p.R87C|ISLR_uc021sqf.1_Missense_Mutation_p.R87C	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	87					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAATGAGATCCGCACGGTGGC	0.632000														23			28		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729552	88729552	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:88729552C>T	uc001xwm.3	-	1	518	c.396G>A	c.(394-396)ttG>ttA	p.L132L	KCNK10_uc001xwn.3_Silent_p.L132L|KCNK10_uc001xwo.3_Silent_p.L127L	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	127					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCACCTGGATCAACGTCTCCA	0.547000														5			21		0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30012803	30012803	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30012803C>T	uc002dvg.1	+	5	566	c.465C>T	c.(463-465)ccC>ccT	p.P155P	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	155	Pro-rich.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						AGCCCAGTCCCCTGAGGCCCA	0.697000														8			8		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106480593	106480593	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:106480593G>A	uc001tlj.1	-	2	1812	c.432C>T	c.(430-432)atC>atT	p.I144I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	144	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCGCTCACTGATGTAATCGT	0.512000														51			16		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	19	24010559	24010559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:24010559C>T	uc002nrn.3	+	3	1019	c.596C>T	c.(595-597)cCt>cTt	p.P199L		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	199					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GAGGTCATGCCTGATCTGTAC	0.522000														13			9		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267036	48267036	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:48267036C>T	uc001ngs.1	+	0	381	c.381C>T	c.(379-381)atC>atT	p.I127I		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACACCACCATCATGAACTGGC	0.498000														55			48		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123908929	123908929	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:123908929C>T	uc001pzq.1	-	0	780	c.780G>A	c.(778-780)agG>agA	p.R260R		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGAGCCTGGCCTCAGGTAAA	0.557000														54			32		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31286951	31286951	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:31286951C>T	uc002ebr.3	+	8	1038	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	ITGAM_uc002ebq.3_Nonsense_Mutation_p.Q314*|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	314	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TCACGTGTTCCAGGTGAATAA	0.527000														34			14		0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	101077939	101077939	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:101077939C>T	uc001voo.3	+	19	1905	c.1799C>T	c.(1798-1800)tCg>tTg	p.S600L	PCCA_uc010aga.3_Missense_Mutation_p.S574L|PCCA_uc010tiz.2_Missense_Mutation_p.S600L	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	600					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.S600S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	AACCTGGCTTCGCCCTTATTG	0.478000														23			17		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091457	34091457	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:34091457C>T	uc021wco.1	+	29	5907	c.5260C>T	c.(5260-5262)Cag>Tag	p.Q1754*	CEP250_uc010zve.2_Nonsense_Mutation_p.Q1122*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1754	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCTCAAAGACCAGCTGGAGCA	0.577000														103			48		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70897925	70897925	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:70897925C>T	uc003pfc.1	+	46	3120	c.3003C>T	c.(3001-3003)ggC>ggT	p.G1001G		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1001	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GCCCTCCAGGCTCTCCAGGCA	0.552000														35			9		0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32355862	32355862	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:32355862C>T	uc001utt.3	+	9	911	c.840C>T	c.(838-840)tgC>tgT	p.C280C	RXFP2_uc010aba.3_Silent_p.C280C	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	280						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTCTGTCGTGCGATTCGCTCA	0.323000														58			4		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35902229	35902229	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:35902229G>A	uc002hoa.3	-	14	3130	c.3047C>T	c.(3046-3048)aCc>aTc	p.T1016I	SYNRG_uc010wde.2_Missense_Mutation_p.T938I|SYNRG_uc010wdf.2_Missense_Mutation_p.T938I|SYNRG_uc002hoc.3_Missense_Mutation_p.T937I|SYNRG_uc002hoe.3_Missense_Mutation_p.T938I|SYNRG_uc002hod.3_Missense_Mutation_p.T893I|SYNRG_uc010wdg.2_Missense_Mutation_p.T810I|SYNRG_uc002hob.3_Missense_Mutation_p.T1016I|SYNRG_uc002hof.3_Missense_Mutation_p.T682I	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1016					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCGTTCGGGGTTTCTTGAGA	0.473000														59			34		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7861759	7861759	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:7861759G>A	uc003mxu.4	+	2	1111	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	311					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TTGACATCACGGCCACTAGCA	0.498000														112			43		0	0	1	0	0
BLCAP	10904	broad.mit.edu	37	20	36147523	36147523	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:36147523G>A	uc021wdg.1	-	0	54	c.54C>T	c.(52-54)aaC>aaT	p.N18N	BLCAP_uc021wde.1_Silent_p.N18N|BLCAP_uc021wdf.1_Silent_p.N18N|BLCAP_uc002xhb.3_Silent_p.N18N|BLCAP_uc002xha.3_Silent_p.N18N|BLCAP_uc002xhc.3_Silent_p.N18N|NNAT_uc002xhd.3_5'Flank|NNAT_uc002xhe.3_5'Flank	NM_006698	NP_006689	P62952	BLCAP_HUMAN	Homo sapiens bladder cancer associated protein (BLCAP), transcript variant 1, mRNA.	18					apoptosis|cell cycle	integral to membrane				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				ACAGGGCGGGGTTGAGGGGCT	0.612000														15			9		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240559	3240559	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:3240559A>T	uc004crg.4	-	4	3324	c.3167T>A	c.(3166-3168)aTt>aAt	p.I1056N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1056						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCCTTTTTAATCAGTAAGGT	0.473000														6			45		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883114	13883114	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:13883114G>A	uc003jfd.2	-	19	3115	c.3073C>T	c.(3073-3075)Cct>Tct	p.P1025S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1025	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCAGGGCAGGGGCCATGACG	0.527000									Kartagener syndrome					23			32		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79747315	79747315	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:79747315C>T	uc001sys.3	+	9	1515	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	SYT1_uc001syt.3_Missense_Mutation_p.R282C|SYT1_uc001syu.3_Missense_Mutation_p.R279C|SYT1_uc001syv.3_Missense_Mutation_p.R282C	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	282	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTTCTCCCTTCGCTACGTACC	0.393000														86			24		0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108295124	108295125	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:108295124_108295125AG>GA	uc003dxb.4	-	7	1156_1157	c.887_888CT>TC	c.(886-888)tct>tTC	p.S296F	KIAA1524_uc003dxc.1_Missense_Mutation_p.S137F|KIAA1524_uc010hpw.1_Missense_Mutation_p.S137F	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	296						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATACCTTTGAAGAGGAATCAGG	0.292000														40			25		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128807120	128807120	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:128807120T>A	uc003ifo.3	+	4	869	c.595T>A	c.(595-597)Tgt>Agt	p.C199S	PLK4_uc011cgs.2_Missense_Mutation_p.C167S|PLK4_uc011cgt.2_Missense_Mutation_p.C158S	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	199	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GTCCCTGGGCTGTATGTTTTA	0.403000														32			72		0	0	1	0	0
HVCN1	84329	broad.mit.edu	37	12	111089052	111089052	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:111089052G>A	uc001trs.1	-	5	778	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	HVCN1_uc001trq.1_Missense_Mutation_p.R205W|HVCN1_uc001trt.1_Missense_Mutation_p.R205W|HVCN1_uc010syd.1_Missense_Mutation_p.R185W	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	205					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CGCCACAGCCGGAGCAGAATC	0.602000														39			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474445	179474445	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179474445C>T	uc021vsy.1	-	220	44226	c.44001G>A	c.(43999-44001)cgG>cgA	p.R14667R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R8362R|TTN_uc021vta.1_Silent_p.R8295R|TTN_uc021vtb.1_Silent_p.R8170R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15594	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGAGTAGCCCGAGAAGGTT	0.438000														108			73		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28223949	28223949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:28223949C>T	uc009xky.3	-	15	2583	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	ARMC4_uc010qds.2_Missense_Mutation_p.E354K|ARMC4_uc010qdt.2_Missense_Mutation_p.E521K|ARMC4_uc001itz.3_Missense_Mutation_p.E829K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	829							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATCATACTTTCAGGTTCTACT	0.408000														16			26		0	0	1	0	0
LOC283693	283693	broad.mit.edu	37	15	83395674	83395674	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:83395674G>A	uc002bjb.3	-	2	628	c.159C>T	c.(157-159)ccC>ccT	p.P53P						Homo sapiens actin, gamma pseudogene (LOC283693), non-coding RNA.																		GACTGGGAGAGGGTGGCTGTA	0.617000														1			3		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538523	63538523	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:63538523A>G	uc011kdm.2	+	3	1275	c.1096A>G	c.(1096-1098)Aga>Gga	p.R366G		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L365F(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TATGGAATTGAGACCTTACAA	0.388000														11			4		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19653490	19653490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:19653490C>T	uc002ykw.3	-	21	2566	c.2535G>A	c.(2533-2535)atG>atA	p.M845I		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	845	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GATTTGATTTCATATGCAGGC	0.408000														76			50		0	0	1	0	0
VCX2	51480	broad.mit.edu	37	X	8138246	8138246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:8138246C>T	uc004csb.3	-	2	554	c.247G>A	c.(247-249)Gag>Aag	p.E83K		NM_016378	NP_057462	Q9H322	VCX2_HUMAN	Homo sapiens variable charge, X-linked 2 (VCX2), mRNA.	83										endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TGAGGGAGCTCCTGGCTGGGC	0.697000														6			46		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643923	20643923	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:20643923G>A	uc001ytg.3	-	22	3556	c.2847C>T	c.(2845-2847)atC>atT	p.I949I	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.I949I					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.R948R(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTTCAGGGTGATGCGAGTCA	0.542000														60			15		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067711	175067711	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:175067711C>T	uc001gkl.1	+	8	2212	c.2099C>T	c.(2098-2100)gCc>gTc	p.A700V	TNN_uc010pmx.1_Missense_Mutation_p.A611V	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	700	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A700A(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAAGAAGGCCGACACCAAG	0.577000														84			16		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813841	106813841	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:106813841C>T	uc003ymd.3	+	7	1554	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P242S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	511					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P511P(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACCATGGTCCCTCAAGCTTC	0.493000														125			34		0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53086390	53086390	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:53086390C>T	uc001saw.3	-	6	1271	c.1242G>A	c.(1240-1242)gaG>gaA	p.E414E	KRT77_uc009zmi.3_Silent_p.E172E	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	414	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGCCTCTCTCCTCAGCATCCG	0.582000														27			30		0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350462	51350462	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:51350462G>A	uc001zyy.3	-	2	595	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	165										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGTCTTTCATGATCTTGTGGG	0.463000														102			30		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12018692	12018692	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:12018692C>T	uc010obb.2	+	9	1217	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	PLOD1_uc001atm.3_Silent_p.F321F	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	321			Missing (in EDS6).		epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCGACTTTTCATCCACAACC	0.587000														46			10		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176562160	176562160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:176562160C>T	uc003mfr.4	+	1	194	c.56C>T	c.(55-57)cCa>cTa	p.P19L	NSD1_uc003mft.4_5'UTR|NSD1_uc003mfs.1_Missense_Mutation_p.P19L|NSD1_uc011dfx.2_5'UTR|NSD1_uc003mfp.2_Missense_Mutation_p.P19L|NSD1_uc003mfq.3_Missense_Mutation_p.P19L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	19					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTTCCAATCCAGTGAATTTA	0.458000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				59			58		0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11856429	11856429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:11856429C>T	uc001atb.1	-	3	881	c.683G>A	c.(682-684)gGg>gAg	p.G228E	MTHFR_uc001atc.2_Missense_Mutation_p.G205E	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	205					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CTCAAAGCTCCCTGCTTCGGG	0.562000														128			182		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55540972	55540972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:55540972C>T	uc010ril.2	+	0	59	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F19V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTGGGTTTTTCAGAATACCCA	0.383000														66			45		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795856	133795856	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:133795856G>A	uc001qgx.4	-	13	2043	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	IGSF9B_uc001qgy.1_Silent_p.F446F	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	604						integral to membrane|plasma membrane		p.L603L(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TTGTAATAGGGAATGCTGCGG	0.642000														13			3		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57009025	57009025	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:57009025G>A	uc001slq.1	-	2	703	c.509C>T	c.(508-510)tCc>tTc	p.S170F	BAZ2A_uc001slp.1_Missense_Mutation_p.S168F|BAZ2A_uc010sqr.1_Missense_Mutation_p.S170F|BAZ2A_uc009zow.1_Missense_Mutation_p.S168F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	170					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						GTCAGGAAAGGAATCATACAG	0.478000														24			5		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327228	57327228	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:57327228G>A	uc002qnu.2	-	6	2933	c.2582C>T	c.(2581-2583)tCc>tTc	p.S861F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S832F|PEG3_uc002qnv.2_Missense_Mutation_p.S861F|PEG3_uc002qnw.2_Missense_Mutation_p.S737F|PEG3_uc002qnx.2_Missense_Mutation_p.S735F|PEG3_uc010etr.2_Missense_Mutation_p.S861F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	861					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATAAATGGAGGATTCTCCCTT	0.428000														25			27		0	0	1	0	0
UBE2Z	65264	broad.mit.edu	37	17	47000226	47000226	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:47000226C>T	uc002ioi.3	+	5	956	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Z (UBE2Z), mRNA.	274					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										ATGGAGAAGTCCTTTCTGGAG	0.468000														9			8		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100630261	100630261	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:100630261C>T	uc010nno.2	-	1	347	c.114G>A	c.(112-114)gtG>gtA	p.V38V	BTK_uc004ehg.2_Silent_p.V4V|BTK_uc010nnn.2_Silent_p.V4V|BTK_uc004ehi.3_Silent_p.V4V	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	4	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTCCAGAATCACTGCGGCCA	0.458000									Agammaglobulinemia, X-linked					17			55		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906351	42906351	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:42906351G>A	uc003cme.3	+	2	535	c.357G>A	c.(355-357)atG>atA	p.M119I	CCBP2_uc003cmf.3_Missense_Mutation_p.M119I|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.M119I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	119					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGTGCAAGATGGTGAGCACTC	0.493000														95			56		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61587099	61587099	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:61587099C>T	uc010xev.2	+	4	540	c.450C>T	c.(448-450)atC>atT	p.I150I	SERPINB2_uc010xew.2_Silent_p.I150I	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	165					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTGATCAAATCAGAAAGGACA	0.388000														26			16		0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8576706	8576706	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:8576706G>A	uc002mke.4	-	4	787	c.669C>T	c.(667-669)ccC>ccT	p.P223P	ZNF414_uc010dwf.3_Silent_p.P212P|ZNF414_uc002mkf.3_Silent_p.P223P	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CAACCTCCGGGGGGCGCTCCG	0.746000														3			5		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21177808	21177808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:21177808C>T	uc001bec.3	-	22	3803	c.3547G>A	c.(3547-3549)Ggt>Agt	p.G1183S	EIF4G3_uc010odi.2_Missense_Mutation_p.G787S|EIF4G3_uc010odj.2_Missense_Mutation_p.G1182S|EIF4G3_uc009vpz.3_Missense_Mutation_p.G903S|EIF4G3_uc001bef.3_Missense_Mutation_p.G1219S|EIF4G3_uc001bee.3_Missense_Mutation_p.G1189S	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1183					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATCCACACCTCCTGTGAGC	0.488000														126			30		0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1956113	1956113	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:1956113C>T	uc001luu.4	+	13	857	c.645C>T	c.(643-645)ttC>ttT	p.F215F	TNNT3_uc001lun.2_Silent_p.F111F|TNNT3_uc001luw.4_Silent_p.F207F|TNNT3_uc001luo.4_Silent_p.F207F|TNNT3_uc001lup.4_Silent_p.F213F|TNNT3_uc001luq.4_Silent_p.F207F|TNNT3_uc001lur.3_Silent_p.F207F|TNNT3_uc010qxf.2_Silent_p.F213F|TNNT3_uc010qxg.2_Silent_p.F147F	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	226					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		TTGACAAGTTCGAGTTTGGGG	0.597000														138			99		0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67172938	67172938	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:67172938G>A	uc001ola.3	+	3	350	c.321G>A	c.(319-321)ggG>ggA	p.G107G	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Silent_p.G107G|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	107	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTTGTGTGGGGCCCATGTGT	0.642000														41			23		0	0	1	0	0
CLDN25	644672	broad.mit.edu	37	11	113651042	113651042	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:113651042C>T	uc009yyw.1	+	0	525	c.525C>T	c.(523-525)ttC>ttT	p.F175F		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	175						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTGGTATTTTCCTGGCTCTTG	0.547000														21			17		0	0	1	0	0
UBE2L3	7332	broad.mit.edu	37	22	21947178	21947178	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:21947178T>C	uc002zva.1	+	1	133	c.56T>C	c.(55-57)aTg>aCg	p.M19T	UBE2L3_uc002zuz.1_Missense_Mutation_p.M19T|UBE2L3_uc011aig.2_Intron	NM_003347	NP_003338	P68036	UB2L3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2L 3 (UBE2L3), transcript variant 1, mRNA.	19					cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					AAATGTGGGATGAAAAACTTC	0.423000														28			25		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905402	23905402	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:23905402T>C	uc001uon.2	-	9	13202	c.12613A>G	c.(12613-12615)Att>Gtt	p.I4205V	SACS_uc001uoo.2_Missense_Mutation_p.I4058V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4205					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTACAATAATTGCATATGTG	0.343000														30			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179534944	179534944	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179534944C>T	uc021vsy.1	-	152	31708	c.31483_splice	c.e152+1	p.V10495_splice	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.V7156_splice|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Splice_Site	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11422	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCAGTTACCTTTAGTTGG	0.353000														13			7		0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43483811	43483811	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:43483811G>A	uc001zqv.3	+	7	1029	c.798G>A	c.(796-798)ggG>ggA	p.G266G	CCNDBP1_uc021sjs.1_Silent_p.G138G|CCNDBP1_uc010udl.2_Silent_p.G105G|CCNDBP1_uc021sjt.1_Silent_p.G105G|CCNDBP1_uc021sju.1_Non-coding_Transcript|CCNDBP1_uc010bdb.3_Silent_p.G138G|CCNDBP1_uc001zqy.3_Silent_p.G138G	NM_012142	NP_036274	O95273	CCDB1_HUMAN	Homo sapiens cyclin D-type binding-protein 1 (CCNDBP1), transcript variant 1, mRNA.	266	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		CAGAGAATGGGAAGAAGGATC	0.502000														32			10		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731383	23731383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:23731383C>T	uc002wtp.3	-	0	192	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	41						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					ACCCACTCATCATTGAGGTCT	0.577000														20			22		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78925636	78925636	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:78925636G>A	uc004akc.2	+	28	4210	c.3672G>A	c.(3670-3672)agG>agA	p.R1224R		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	870					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						CTTCCGTAAGGAGTGGGAGCT	0.557000														5			7		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419098	55419098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:55419098C>T	uc001nhs.1	+	0	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACCTGTGGCTCCCACATTGCC	0.483000														10			40		0	0	1	0	0
SELV	348303	broad.mit.edu	37	19	40009430	40009430	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:40009430C>T	uc021uum.1	+	2	985	c.885C>T	c.(883-885)ctC>ctT	p.L295L		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	295					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATCACCTACTCTTTGTAAGTG	0.577000														35			17		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39781028	39781028	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:39781028G>A	uc003xnm.3	+	6	692	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	193					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ATGCAAGAACGGGACACTTTG	0.373000														23			3		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18296625	18296625	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:18296625C>A	uc010zrv.1	+	4	1342	c.1139C>A	c.(1138-1140)tCt>tAt	p.S380Y	ZNF133_uc010gcq.2_Missense_Mutation_p.S377Y|ZNF133_uc010zrw.1_Missense_Mutation_p.S314Y|ZNF133_uc010gcr.2_Missense_Mutation_p.S377Y|ZNF133_uc010zrx.1_Missense_Mutation_p.S282Y|ZNF133_uc002wql.4_Missense_Mutation_p.S376Y|ZNF133_uc010gcs.3_Missense_Mutation_p.S376Y|ZNF133_uc010zry.2_Missense_Mutation_p.S282Y|ZNF133_uc002wqm.2_Missense_Mutation_p.S377Y	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	377						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGGACGCACTCTGGGGAGAAG	0.582000														39			22		8.10497e-08	8.15233e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179432597	179432597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179432597G>A	uc021vsy.1	-	274	70783	c.70558C>T	c.(70558-70560)Ccc>Tcc	p.P23520S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17215S|TTN_uc021vta.1_Missense_Mutation_p.P17148S|TTN_uc021vtb.1_Missense_Mutation_p.P17023S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24447	Ig-like 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17148S(1)|p.P17023S(1)|p.P17215S(1)|p.P23518S(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)			GGGTCACAGGGATCTCTGGCT	0.398000														125			52		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110523106	110523106	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:110523106C>T	uc003yne.3	+	70	11600	c.11496C>T	c.(11494-11496)ttC>ttT	p.F3832F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3832					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAGTTTACTTCACTGGCACCA	0.438000										HNSCC(38;0.096)				73			60		0	0	1	0	0
HTR2A	3356	broad.mit.edu	37	13	47469826	47469826	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:47469826C>T	uc010acr.3	-	1	905	c.216G>A	c.(214-216)caG>caA	p.Q72Q	HTR2A_uc001vbr.3_Intron	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	72					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGTTTTTTTCCTGGAGATGAA	0.453000														46			43		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64418968	64418968	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:64418968T>C	uc021qkw.1	-	13	3139	c.2677A>G	c.(2677-2679)Atg>Gtg	p.M893V	NRXN2_uc021qkx.1_Missense_Mutation_p.M853V|NRXN2_uc001oas.3_Missense_Mutation_p.M853V|NRXN2_uc001oaq.3_Missense_Mutation_p.M560V	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	893	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CACTGGTCCATGTAGGGCTGG	0.582000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			21		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182413434	182413434	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:182413434G>A	uc002unx.3	-	7	1225	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.A349V|CERKL_uc010zfm.2_Missense_Mutation_p.A331V|CERKL_uc002unz.3_Missense_Mutation_p.A97V|CERKL_uc002uoa.3_Missense_Mutation_p.A280V|CERKL_uc002uob.3_Missense_Mutation_p.A97V|CERKL_uc002uoc.3_Missense_Mutation_p.A236V|CERKL_uc021vth.1_Missense_Mutation_p.A144V|CERKL_uc021vti.1_Missense_Mutation_p.A97V|CERKL_uc021vtj.1_Missense_Mutation_p.A52V|CERKL_uc021vtk.1_Missense_Mutation_p.A97V|CERKL_uc021vtl.1_Missense_Mutation_p.A52V|CERKL_uc021vtm.1_Missense_Mutation_p.A144V|CERKL_uc002uod.2_Missense_Mutation_p.A144V|CERKL_uc002uoe.3_Missense_Mutation_p.A349V|CERKL_uc002unw.3_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	375					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTAACAACAGCAAAATCTCT	0.383000														40			31		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958924	54958924	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:54958924G>A	uc003dhl.3	-	1	460	c.326C>T	c.(325-327)tCa>tTa	p.S109L	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	109						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGAAAGGAGTGAATTCTGGGT	0.468000														30			24		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759418	121759418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:121759418G>A	uc003ksw.1	+	3	1192	c.986G>A	c.(985-987)gGa>gAa	p.G329E	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.G329E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.G376E|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.G329E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	329					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTTAAAGAAGGACAGATCTCT	0.413000														52			12		0	0	1	0	0
WFDC13	164237	broad.mit.edu	37	20	44333185	44333185	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:44333185C>T	uc002xpd.3	+	1	299	c.191C>T	c.(190-192)tCc>tTc	p.S64F	WFDC10B_uc002xpb.3_5'UTR|WFDC10B_uc002xpc.3_Silent_p.R30R	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA.	64						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				TGCTGTTCCTCCTTCTGTGGG	0.463000														83			25		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641075	99641075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:99641075C>T	uc001yga.3	-	3	2365	c.2098G>A	c.(2098-2100)Gcg>Acg	p.A700T	BCL11B_uc001ygb.3_Missense_Mutation_p.A629T	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	700						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGATGAGCGCGGCGGGCGGC	0.706000			T	TLX3	T-ALL									10			26		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105177554	105177554	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:105177554G>A	uc001kwy.1	+	13	1863	c.1776G>A	c.(1774-1776)gtG>gtA	p.V592V		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	592	S1 motif 6.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCCAGGTGGTGAAGGTTGTCG	0.547000														24			36		0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257523	114257523	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:114257523C>T	uc002tjw.4	+	0	863	c.690C>T	c.(688-690)ccC>ccT	p.P230P		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	230	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TGCACAACCCCCGCCCAGGCC	0.721000														93			69		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872537	4872538	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:4872537_4872538CC>TT	uc001qne.1	+	7	1570_1571	c.1478_1479CC>TT	c.(1477-1479)acc>aTT	p.T493I		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	493						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCACTCCACACCATCGTGGGCT	0.416000														40			20		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731140	6731140	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:6731140G>A	uc003sqt.1	-	4	1987	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L	ZNF12_uc011jxa.1_Missense_Mutation_p.S316L|ZNF12_uc003sqs.1_Missense_Mutation_p.S440L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	478					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CATGAGGGCTGAATTCAGGTA	0.398000														38			28		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84292048	84292048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:84292048G>A	uc021zcf.1	-	21	2072	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	SNAP91_uc011dzd.2_Missense_Mutation_p.S184F|SNAP91_uc003pka.3_Missense_Mutation_p.S679F|SNAP91_uc011dze.2_Missense_Mutation_p.S679F|SNAP91_uc003pkc.3_Missense_Mutation_p.S651F|SNAP91_uc003pkd.3_Missense_Mutation_p.S374F|SNAP91_uc003pkb.3_Missense_Mutation_p.S590F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	681					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)		TGGAGATGGGGAAGGCGCCAT	0.433000														40			9		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233270915	233270915	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:233270915G>A	uc001hvl.2	-	20	3916	c.3681C>T	c.(3679-3681)atC>atT	p.I1227I	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1227						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCCAGCAATGATCATCAGAA	0.413000														6			23		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57850021	57850021	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:57850021G>A	uc001snw.3	+	1	667	c.443G>A	c.(442-444)aGg>aAg	p.R148K		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	148					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGGGGACCAAGGAGGAGGCGC	0.622000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		131			42		0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1334431	1334431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:1334431G>A	uc001afi.2	-	0	288	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afj.2_5'UTR|CCNL2_uc021oep.1_Nonsense_Mutation_p.Q86*|LOC148413_uc001afm.3_5'Flank|LOC148413_uc009vkd.3_5'Flank	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	86	Cyclin-like 1.				RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CCGGCCGCCTGGATGAGCTCG	0.716000														5			27		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90452922	90452922	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:90452922G>A	uc003pnn.1	-	30	4511	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1465					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATCCAAGAGGAAAAAGCCGT	0.448000														30			39		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122888458	122888458	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:122888458C>T	uc010rzt.2	+	0		c.185C>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		TGCGGGCCTCCCAGGTGCTTC	0.587000														35			20		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801664	185801664	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:185801664G>A	uc002uph.3	+	3	2135	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	514						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TATGAAATTGGAAGTAGCAAA	0.398000														56			33		0	0	1	0	0
C4orf32	132720	broad.mit.edu	37	4	113108007	113108007	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:113108007C>T	uc003iah.2	+	1	496	c.312C>T	c.(310-312)ttC>ttT	p.F104F	C4orf32_uc003iai.3_Non-coding_Transcript	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN	Homo sapiens chromosome 4 open reading frame 32 (C4orf32), mRNA.	104						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TAGTCATTTTCTTTTGGGTTA	0.403000														61			97		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903668	20903668	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:20903668G>A	uc010sii.2	+	14	2213	c.1858G>A	c.(1858-1860)Gga>Aga	p.G620R	SLCO1C1_uc010sij.2_Missense_Mutation_p.G571R|SLCO1C1_uc009zip.3_Missense_Mutation_p.G454R|SLCO1C1_uc001rei.3_Missense_Mutation_p.G620R|SLCO1C1_uc010sik.2_Missense_Mutation_p.G502R	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	620					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCTCAAATGGGGATTTAAAAG	0.373000														18			18		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020744	5020744	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5020744C>T	uc010qyu.2	+	0	532	c.532C>T	c.(532-534)Cac>Tac	p.H178Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCCTCTCTCACGCCTTCTG	0.468000														76			46		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22730818	22730818	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:22730818C>T	uc021wml.1	+	49		c.5624C>T								Parts of antibodies, mostly variable regions.																		CATCTCTGGGCTCCAGTCTGA	0.517000														122			54		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321602	56321602	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:56321602G>A	uc010ygf.2	-	4	1085	c.374C>T	c.(373-375)tCg>tTg	p.S125L	NLRP11_uc002qlz.3_Missense_Mutation_p.S26L|NLRP11_uc002qmb.3_Missense_Mutation_p.S26L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	125							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACATCTGACGAAACGTCACG	0.383000														13			3		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7083595	7083595	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:7083595T>G	uc001mfb.1	+	9	3159	c.2836T>G	c.(2836-2838)Tgt>Ggt	p.C946G		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	946					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAATGCATGTTGTCTGGATCT	0.403000														54			30		0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28598321	28598321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:28598321G>A	uc002hez.2	-	9	1461	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	BLMH_uc010wbn.2_Missense_Mutation_p.H285Y	NM_000386	NP_000377	Q13867	BLMH_HUMAN	Homo sapiens bleomycin hydrolase (BLMH), mRNA.	372					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	p.T371T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTCATGGCGTGGGTCATAAGT	0.453000														38			15		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76121490	76121490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:76121490C>T	uc011kgk.1	+	3	1008	c.656C>T	c.(655-657)cCc>cTc	p.P219L	DTX2_uc003uff.4_Missense_Mutation_p.P310L|DTX2_uc003ufg.4_Missense_Mutation_p.P310L|DTX2_uc003ufh.4_Missense_Mutation_p.P310L|DTX2_uc003ufj.4_Missense_Mutation_p.P310L|DTX2_uc003ufk.4_5'UTR	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	310					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCAGCGGTCCCTCAAGCAGC	0.627000														27			3		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611351	84611351	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:84611351G>A	uc002bjz.4	+	17	2345	c.2121G>A	c.(2119-2121)tgG>tgA	p.W707*	ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W707*	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	707	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTTTTAGGTGGCATGTGGGCT	0.547000														22			24		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002320	98002320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:98002320C>T	uc003dsj.1	+	0	589	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P197H(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGTACTGACCCTTCTATTAA	0.303000														21			13		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390421	197390421	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:197390421T>A	uc001gtz.3	+	5	1672	c.1463T>A	c.(1462-1464)tTt>tAt	p.F488Y	CRB1_uc010poz.2_Missense_Mutation_p.F419Y|CRB1_uc009wza.3_Missense_Mutation_p.F376Y|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.F488Y|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.F137Y	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	488	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACACTTTCATTTGAGGGCGAT	0.517000														23			49		0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195452027	195452027	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:195452027C>T	uc010hzo.3	+	1	679	c.553C>T	c.(553-555)Cca>Tca	p.P185S	MUC20_uc010hzp.3_Missense_Mutation_p.P150S|MUC20_uc011bte.1_5'Flank	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	356	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCCCCCATCCAGTCATCAC	0.612000														16			47		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189926320	189926320	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:189926320C>T	uc002uqk.3	-	29	2274	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	COL5A2_uc010frx.3_Missense_Mutation_p.E243K	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	667					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTCCTTGTTCTCCTCTTTCA	0.373000														34			19		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962343	10962343	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:10962343A>T	uc001qyx.3	-	0	425	c.332T>A	c.(331-333)aTa>aAa	p.I111K	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	111					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TATATTGGCTATCTTGAGTAA	0.378000														27			12		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76619606	76619606	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:76619606C>T	uc011kgn.1	+	1		c.460C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCAGCGGTCCCTCAAGCAGC	0.632000														40			11		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67913599	67913599	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:67913599C>T	uc002eur.3	+	14	1982	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	EDC4_uc010cer.3_Silent_p.F200F|EDC4_uc010vkg.1_Silent_p.F513F|EDC4_uc002eus.3_Silent_p.F311F|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	581					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCGACTTCCTCAGTCTGA	0.632000														95			68		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75091054	75091054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:75091054C>T	uc011cbk.2	+	5	775	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	MTHFD2L_uc011cbj.2_Missense_Mutation_p.P192S|MTHFD2L_uc003hhu.3_Non-coding_Transcript	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	192					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			CAGATACACCCCCAAAGAGCA	0.368000														72			15		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699530	52699530	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:52699530G>A	uc010snq.2	+	6	1117	c.984G>A	c.(982-984)atG>atA	p.M328I	KRT86_uc009zmg.3_Missense_Mutation_p.M328I|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.M328I	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	328	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAACCGCATGATCCAGAGGC	0.592000														56			25		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27446839	27446839	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:27446839C>T	uc002rji.3	+	7	1212	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	CAD_uc010eyw.3_Silent_p.F350F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	350	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACTGCTTTTCGATATCTTTC	0.498000														86			88		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326681	61326681	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:61326681C>T	uc002lji.3	-	3	447	c.303G>A	c.(301-303)ctG>ctA	p.L101L	SERPINB3_uc002ljg.3_Silent_p.L101L|SERPINB3_uc010dqa.3_Silent_p.L101L|SERPINB3_uc010dqb.3_Silent_p.L101L	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	101					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGGCGATCTTCAGCTCATATG	0.393000														66			42		0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155173095	155173095	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:155173095C>T	uc001fix.3	-	6	779	c.674_splice	c.e6-1	p.G225_splice	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Splice_Site_p.G105_splice|THBS3_uc009wqi.3_Splice_Site_p.G216_splice|THBS3_uc001fiy.3_Splice_Site|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Splice_Site	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	225					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			TGGTCTGCTCCCCTGTCGGGA	0.627000														5			36		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762706	20762706	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:20762706C>T	uc010kuh.3	+	20	2726	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F	ABCB5_uc003suw.4_Missense_Mutation_p.S385F|ABCB5_uc003sux.1_Missense_Mutation_p.S8F	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	385					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTATCATTTCCTTTATATAT	0.413000														57			37		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801719	148801719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:148801719G>A	uc003wfj.3	-	3	1377	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	415					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCGGGACACGAAAAGGGCTT	0.532000														112			26		0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59361107	59361107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:59361107G>A	uc001noc.1	-	8	2128	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	OSBP_uc009ymr.1_Intron	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	550					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TATTTGCCTCGAAACTTGCTG	0.478000														33			37		0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23106856	23106856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:23106856C>T	uc003xdc.2	+	2	1081	c.433C>T	c.(433-435)Cca>Tca	p.P145S	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Missense_Mutation_p.P35S	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	145					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TAATAAGGTTCCAGCTGAGGA	0.562000														33			18		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484873	43484873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:43484873C>T	uc003tid.1	+	10	2707	c.2102C>T	c.(2101-2103)tCg>tTg	p.S701L	HECW1_uc011kbi.1_Missense_Mutation_p.S701L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	701	Cys-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.V701V(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACAGCGCCTCGTGCTACAGC	0.637000														59			29		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847497	28847497	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:28847497C>T	uc002dqy.3	+	22	3306	c.3139_splice	c.e22+1	p.L1047_splice	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Intron|ATXN2L_uc002dra.3_Intron|ATXN2L_uc002drb.3_Splice_Site_p.P1047_splice|ATXN2L_uc002drc.3_Missense_Mutation_p.R1047C|ATXN2L_uc010vdb.2_Splice_Site_p.L1053_splice|ATXN2L_uc002dre.3_Splice_Site_p.L1047_splice|ATXN2L_uc002drf.3_Missense_Mutation_p.R456C|ATXN2L_uc002drg.3_Missense_Mutation_p.R330C	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	0						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGACAGGATTCGTGAGTTCTC	0.612000														86			61		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7556302	7556302	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:7556302G>A	uc010sge.2	-	5	1293	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	CD163L1_uc001qsy.3_Missense_Mutation_p.P413S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	413	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACGCTGAACGGACATCCTAGC	0.458000														50			43		0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151056565	151056565	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:151056565G>A	uc003eyw.1	-	1	285	c.69C>T	c.(67-69)atC>atT	p.I23I	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Silent_p.I23I|P2RY12_uc003eyx.1_Silent_p.I23I|P2RY12_uc021xga.1_Silent_p.I23I	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	23					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GGACCTGGGTGATTTTGTAGT	0.468000														26			12		0	0	1	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67560710	67560710	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:67560710G>A	uc001omt.4	-	3	387	c.364C>T	c.(364-366)Cct>Tct	p.P122S						Homo sapiens family with sequence similarity 86, member C2, pseudogene (FAM86C2P), non-coding RNA.																		CTCTTCGTAGGGAAACAGTTT	0.512000														102			48		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49155168	49155168	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:49155168G>A	uc003cwd.2	-	3	713	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	USP19_uc003cwa.3_5'UTR|USP19_uc003cwb.3_Missense_Mutation_p.R117C|USP19_uc003cvz.4_Missense_Mutation_p.R132C|USP19_uc011bcg.2_Missense_Mutation_p.R132C|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.R132C|USP19_uc011bci.2_Missense_Mutation_p.R117C	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	132	CS 1.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTCCCACACGAAGCTTGACA	0.532000														44			43		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886007	88886007	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:88886007C>T	uc003ydz.3	-	0	290	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	65										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGGAGGGATCCCAGCTATGA	0.517000														67			40		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48920255	48920255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:48920255C>T	uc010slu.2	+	0	841	c.841C>T	c.(841-843)Ccc>Tcc	p.P281S		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGTAGTCACTCCCATGCTGAA	0.423000														40			8		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38427202	38427202	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:38427202C>T	uc003jlc.2	+	13	2248	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	EGFLAM_uc003jlb.2_Silent_p.F634F|EGFLAM_uc003jle.2_Silent_p.F400F|EGFLAM_uc003jlf.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	634	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACCTTTCCTTCATGGAATTTG	0.493000														132			52		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001376	109001376	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:109001376C>T	uc003yms.3	-	2	849	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	RSPO2_uc003ymq.3_5'UTR|RSPO2_uc003ymr.3_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	64					Wnt receptor signaling pathway	extracellular region	heparin binding	p.L63F(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCTTCTCTTCGAAGGAAGAA	0.478000														40			27		0	0	1	0	0
DSN1	79980	broad.mit.edu	37	20	35390870	35390870	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:35390870G>A	uc010gfr.3	-	5	957	c.584C>T	c.(583-585)tCa>tTa	p.S195L	DSN1_uc002xfz.3_Missense_Mutation_p.S195L|DSN1_uc002xfy.4_5'UTR|DSN1_uc010zvs.2_Missense_Mutation_p.S88L|DSN1_uc002xga.3_Missense_Mutation_p.S195L|DSN1_uc002xgc.3_Missense_Mutation_p.S179L|DSN1_uc002xgb.3_Missense_Mutation_p.S179L	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	195					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TTACCCATTTGAATCTTCAAA	0.423000														17			5		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476108	21476108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:21476108G>A	uc002npq.1	-	3	1858	c.1660C>T	c.(1660-1662)Cat>Tat	p.H554Y	ZNF708_uc002npr.1_Missense_Mutation_p.H490Y|ZNF708_uc010ecs.1_Missense_Mutation_p.H490Y	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCTTTGGTATGAATTCTCTTA	0.318000														35			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229243	140229243	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140229243C>T	uc003lhu.2	+	0	1887	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.S388F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	403	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTACCTGCTCCCTGACGCCC	0.562000														76			41		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105400333	105400333	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:105400333G>A	uc003dwc.3	-	15	2740	c.2418C>T	c.(2416-2418)atC>atT	p.I806I	CBLB_uc003dwa.3_Intron|CBLB_uc011bhi.2_Intron|CBLB_uc003dwd.2_Silent_p.I806I|CBLB_uc003dwe.2_3'UTR	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	806	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTAATGGAGGGATGAGAAGAT	0.438000			Mis S		AML									51			21		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188994	50188994	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:50188994G>A	uc009zlk.2	-	7	2851	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	NCKAP5L_uc001rvc.3_Silent_p.I87I|NCKAP5L_uc001rvb.2_Silent_p.I476I	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	879										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCTTCTCCTCGATGGCTGAGT	0.657000														35			46		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564557	66564557	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:66564557C>T	uc002lkk.2	+	7	1378	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	CCDC102B_uc002lki.2_Silent_p.I385I|CCDC102B_uc002lkj.1_Silent_p.I385I	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	385										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGCTGAAGATCCAGGTGAAAG	0.388000														66			55		0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13035926	13035926	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:13035926G>A	uc002mvs.2	-	7	952	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	FARSA_uc010xmv.1_Nonsense_Mutation_p.Q271*	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	302					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TAGCCGCCCTGAGAGTGGGTC	0.627000														8			6		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:24488226C>T	uc003jgr.2	-	11	2419	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R638L(2)|p.R638Q(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398000										HNSCC(23;0.051)				50			15		0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65617689	65617689	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:65617689G>A	uc001ofr.3	+	3	448	c.321G>A	c.(319-321)ggG>ggA	p.G107G	SNX32_uc009yqt.3_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.G147E	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	107	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGGGCGAGGGGGACAGCTCTG	0.597000														54			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408342	179408342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179408342C>T	uc021vsy.1	-	295	88879	c.88654G>A	c.(88654-88656)Gat>Aat	p.D29552N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D23247N|TTN_uc021vta.1_Missense_Mutation_p.D23180N|TTN_uc021vtb.1_Missense_Mutation_p.D23055N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30479	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCACAGAATCTCTTGATACT	0.393000														11			9		0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138416708	138416708	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:138416708G>A	uc022bpk.1	+	4	492	c.432G>A	c.(430-432)tgG>tgA	p.W144*	LCN1_uc022bpj.1_Nonsense_Mutation_p.W141*|LCN1_uc004cfz.2_Missense_Mutation_p.E146K|LCN1_uc004cga.2_Missense_Mutation_p.E146K	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	0					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GGAAGCCTTGGAGGACTTTGA	0.647000														7			9		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55146569	55146569	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:55146569G>A	uc003han.4	+	15	2574	c.2243G>A	c.(2242-2244)aGg>aAg	p.R748K	PDGFRA_uc003haa.3_Missense_Mutation_p.R508K|PDGFRA_uc010igq.1_Missense_Mutation_p.R642K|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.R127K	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	748	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.R748G(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGCTAGAAAGGAAAGAGGTT	0.368000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				16			23		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				64			120		0	0	1	0	0
C9orf153	389766	broad.mit.edu	37	9	88842279	88842279	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:88842279C>T	uc004aoo.3	-	3	356	c.275G>A	c.(274-276)aGa>aAa	p.R92K	GOLM1_uc010mqd.1_Intron|C9orf153_uc004aon.3_Intron	NM_001010907	NP_001010907	Q5TBE3	CI153_HUMAN	Homo sapiens chromosome 9 open reading frame 153 (C9orf153), mRNA.	92										breast(1)|lung(1)	2						tggggtctttctatgttttcc	0.348000														7			19		0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	139994657	139994657	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:139994657G>A	uc003ihp.1	-	3	554	c.303C>T	c.(301-303)gcC>gcT	p.A101A	ELF2_uc003ihm.1_Silent_p.A41A|ELF2_uc003ihn.1_Silent_p.A41A|ELF2_uc003iho.1_Silent_p.A41A|ELF2_uc010ioh.3_Silent_p.A41A	NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	101					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TATGAAGCAGGGCTTCAGCAG	0.383000														23			24		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186797	47186797	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:47186797C>T	uc001rpi.2	-	2	457	c.58G>A	c.(58-60)Gga>Aga	p.G20R	SLC38A4_uc001rpj.2_Missense_Mutation_p.G20R|SLC38A4_uc009zkl.2_Missense_Mutation_p.G20R	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	20					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GCACTTTCTCCACTGCTGCTC	0.443000														52			49		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56426979	56426979	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56426979G>A	uc001sjb.1	+	7	1030	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	IKZF4_uc010sqa.1_Missense_Mutation_p.E244K|IKZF4_uc001sjc.1_Missense_Mutation_p.E291K|IKZF4_uc001sjd.1_Missense_Mutation_p.E189K|IKZF4_uc009zoi.1_Missense_Mutation_p.E246K|IKZF4_uc001sje.1_Missense_Mutation_p.E250K	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	291					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			ACTAGGTGACGAAATACGTGA	0.542000														40			11		0	0	1	0	0
PEBP4	157310	broad.mit.edu	37	8	22777793	22777793	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:22777793C>T	uc003xcn.1	-	2	254	c.162G>A	c.(160-162)ggG>ggA	p.G54G		NM_144962	NP_659399	Q96S96	PEBP4_HUMAN	Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA.	54						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		AGCCAATGTTCCCCAACTCTG	0.537000														38			33		0	0	1	0	0
SIRT7	51547	broad.mit.edu	37	17	79872342	79872342	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:79872342G>A	uc002kcj.2	-	6	695	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	Homo sapiens sirtuin 7 (SIRT7), mRNA.	215	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCTGTGGAGGGCAGTGCGCTC	0.637000														57			18		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45303658	45303658	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:45303658C>T	uc002ozs.3	+	9	1446	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	CBLC_uc010ejt.3_Silent_p.S415S	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	461					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGGGGAACTCCCCTCCAGCTG	0.617000			M		AML						OREG0025543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			11		0	0	1	0	0
RCN3	57333	broad.mit.edu	37	19	50031886	50031886	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:50031886C>T	uc002poj.3	+	1	604	c.157C>T	c.(157-159)Cag>Tag	p.Q53*		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	53						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CGGGAACTTCCAGTACGACCA	0.642000														55			47		0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27302058	27302058	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:27302058G>A	uc002rii.4	+	0	624	c.125G>A	c.(124-126)gGg>gAg	p.G42E	EMILIN1_uc010eyq.2_Missense_Mutation_p.G42E	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	42					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAGCCCCGGGGGGCCCCAG	0.682000														25			9		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389049	4389049	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:4389049G>A	uc010qye.2	-	0	568	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATGATAGGGAAAATTGTAC	0.363000														22			19		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20611712	20611712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:20611712G>A	uc003gpr.1	+	33	3973	c.3769G>A	c.(3769-3771)Gat>Aat	p.D1257N	SLIT2_uc003gps.1_Missense_Mutation_p.D1249N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1257	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTGTCCGTGGATGGTGGGAA	0.433000														25			41		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463704	162463704	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:162463704G>A	uc003iqh.3	-	8	1593	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	FSTL5_uc003iqi.3_Missense_Mutation_p.S385F|FSTL5_uc010iqv.3_Missense_Mutation_p.S385F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	386	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAGTTGTTTGGAAAGCTTTGG	0.388000														24			44		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83520158	83520158	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:83520158C>T	uc010vns.2	+	7	1263	c.999C>T	c.(997-999)atC>atT	p.I333I	CDH13_uc002fgx.3_Silent_p.I286I|CDH13_uc010vnt.2_Silent_p.I32I|CDH13_uc010vnu.2_Silent_p.I247I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	286	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGTATAATATCCGTCAGCAGA	0.542000														31			28		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152420423	152420423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:152420423C>T	uc021vrb.1	-	88	13419	c.13390G>A	c.(13390-13392)Gag>Aag	p.E4464K	NEB_uc002txr.3_Missense_Mutation_p.E930K|NEB_uc002txu.3_Missense_Mutation_p.E6165K|NEB_uc021vrc.1_Missense_Mutation_p.E6165K|NEB_uc010fnx.3_Missense_Mutation_p.E4452K|NEB_uc021vrd.1_Missense_Mutation_p.E4464K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4464					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGTGCCCTCCCACGCCCCT	0.433000														8			3		0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17102580	17102580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:17102580G>A	uc003wxf.1	-	1	250	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	CNOT7_uc003wxg.1_Missense_Mutation_p.R28C|CNOT7_uc003wxh.1_Missense_Mutation_p.R28C|CNOT7_uc003wxi.1_Missense_Mutation_p.R28C|VPS37A_uc003wxj.3_5'Flank|VPS37A_uc003wxk.3_5'Flank	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	28					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R28C(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		ATAACTTGACGAATTTTCTTC	0.388000														31			10		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69347543	69347543	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:69347543G>A	uc001xkl.3	-	16	2427	c.2117C>T	c.(2116-2118)aCc>aTc	p.T706I	ACTN1_uc001xkk.3_Missense_Mutation_p.T302I|ACTN1_uc010ttb.2_Missense_Mutation_p.T641I|ACTN1_uc001xkm.3_Missense_Mutation_p.T706I|ACTN1_uc001xkn.3_Missense_Mutation_p.T706I|ACTN1_uc010ttc.2_Missense_Mutation_p.T291I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	706	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTGTAGTTGGTGTGCTTGTT	0.572000														13			61		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414557	41414557	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:41414557G>A	uc002yyq.1	-	31	5879	c.5427C>T	c.(5425-5427)tcC>tcT	p.S1809S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1809					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTCGTAAGTGGAGGAGGCAC	0.512000														43			24		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002430	98002430	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:98002430G>A	uc003dsj.1	+	0	699	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCTAAAAAAGAAGTCTGTTA	0.373000														26			14		0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11158087	11158087	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:11158087A>G	uc001asa.3	-	1	288	c.238T>C	c.(238-240)Ttg>Ctg	p.L80L	EXOSC10_uc001asb.3_Silent_p.L80L|EXOSC10_uc009vmy.1_Silent_p.L80L	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	80					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CACTGAAGCAACCTGTCTCCC	0.383000														9			17		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45965857	45965857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:45965857C>T	uc001zvu.3	+	5	705	c.512C>T	c.(511-513)tCa>tTa	p.S171L	SQRDL_uc001zvv.3_Missense_Mutation_p.S171L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	171							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCGAATTATTCAGTTAAGACT	0.413000														76			29		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61935302	61935302	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:61935302G>A	uc002eog.2	-	2	1283	c.328C>T	c.(328-330)Caa>Taa	p.Q110*		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	110	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATTTATTTGAAATATGGTC	0.418000														26			24		0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100497448	100497448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:100497448G>A	uc004egz.2	+	7	1332	c.963G>A	c.(961-963)tgG>tgA	p.W321*	DRP2_uc011mrh.1_Nonsense_Mutation_p.W243*	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	321					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ACGTCCGATGGAAACAACTAC	0.493000														14			66		0	0	1	0	0
KLK2	3817	broad.mit.edu	37	19	51380002	51380002	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:51380002G>A	uc002ptv.3	+	2	522	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	KLK2_uc010eog.3_Missense_Mutation_p.E59K|KLK2_uc010yck.2_Missense_Mutation_p.E161K|KLK2_uc002ptt.3_Non-coding_Transcript|KLK2_uc010ycl.2_Missense_Mutation_p.E144K|KLK2_uc010ycm.2_Missense_Mutation_p.E59K|KLK2_uc002ptu.3_Missense_Mutation_p.E161K	NM_005551	NP_005542	P20151	KLK2_HUMAN	Homo sapiens kallikrein-related peptidase 2 (KLK2), transcript variant 1, mRNA.	161	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGCAGCATCGAACCAGAGGA	0.642000			T	ETV4	prostate									22			7		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202604	39202604	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:39202604C>T	uc003jls.3	-	0	526	c.459G>A	c.(457-459)ccG>ccA	p.P153P	FYB_uc003jlt.3_Silent_p.P153P|FYB_uc003jlu.3_Silent_p.P153P|FYB_uc011cpl.2_Silent_p.P163P	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	153					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCCCAGATTTCGGGCCTAGTG	0.458000														57			105		0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118764554	118764554	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:118764554G>A	uc001pue.4	+	1	477	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	CXCR5_uc001puf.3_Missense_Mutation_p.V56I	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	101					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTCCTGCTGGTCTTCATCTT	0.617000														43			37		0	0	1	0	0
RAB5B	5869	broad.mit.edu	37	12	56385228	56385228	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56385228C>T	uc001siv.3	+	4	703	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	RAB5B_uc001siw.3_Silent_p.L175L|RAB5B_uc010spz.2_Silent_p.L134L|RAB5B_uc009zog.3_Silent_p.L115L	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	175					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGATCTCTTCCTGGCAATAGG	0.458000														38			6		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44836750	44836750	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:44836750G>A	uc002zdf.2	-	13	2351	c.2224C>T	c.(2224-2226)Ccc>Tcc	p.P742S		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	742					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GGCACAGCGGGGAGGGCGGTG	0.731000														13			7		0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84940205	84940205	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:84940205C>T	uc010voh.1	+	14	1678	c.1451C>T	c.(1450-1452)cCt>cTt	p.P484L	CRISPLD2_uc010vog.1_Intron	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	484	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTGGGGACTCCTCGGGATGGA	0.582000														56			25		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37650905	37650905	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:37650905G>T	uc010cvv.3	+	4	2963	c.2377G>T	c.(2377-2379)Gtc>Ttc	p.V793F	CDK12_uc010wef.1_Missense_Mutation_p.V792F|CDK12_uc002hrw.4_Missense_Mutation_p.V793F	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	793	Protein kinase.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						gaaggaaattgtcacagataa	0.393000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				9			3		0.115264	0.11547	1	1	0
EPX	8288	broad.mit.edu	37	17	56272394	56272394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:56272394C>T	uc002ivq.3	+	5	783	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	222					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.L222V(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGGCCGAGCCCTCATGTTCAT	0.597000														30			23		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67809240	67809240	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:67809240C>T	uc001one.3	+	2	267	c.138C>T	c.(136-138)gcC>gcT	p.A46A	TCIRG1_uc001ond.2_Silent_p.A46A|TCIRG1_uc001onf.1_Silent_p.A46A|TCIRG1_uc001ong.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	46					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	p.A46T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CGGTGAGCGCCTTCCAGAGAC	0.622000														11			8		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528732	77528732	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:77528732C>T	uc001dhi.3	+	4	1027	c.852C>T	c.(850-852)ctC>ctT	p.L284L	ST6GALNAC5_uc010ori.2_3'UTR|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript|ST6GALNAC5_uc001dhj.3_5'Flank	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	284					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAATGTACCTCTCCCATGAGC	0.423000														26			55		0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27121369	27121369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:27121369G>A	uc001bmz.3	+	2	1207	c.844G>A	c.(844-846)Gac>Aac	p.D282N	PIGV_uc001bna.3_Missense_Mutation_p.D282N|PIGV_uc010ofg.2_Missense_Mutation_p.D47N	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	282					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GTTAGCTGTAGACAAGGGCTA	0.507000														243			49		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27878359	27878359	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:27878359G>C	uc021ojw.1	-	0	268	c.268C>G	c.(268-270)Cgt>Ggt	p.R90G	AHDC1_uc009vsy.3_Missense_Mutation_p.R90G|AHDC1_uc009vsz.1_Missense_Mutation_p.R90G|AHDC1_uc001boh.1_5'UTR	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	90	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGACAGGACGGGCTGCCCGT	0.731000														116			27		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34101636	34101636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:34101636G>A	uc011kap.2	+	11	1429	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	352	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACAGAAAAGGATGCTGTCCT	0.303000														13			5		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898776	36898776	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:36898776C>T	uc003cgj.3	-	11	2553	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	769					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCATCCTGATCATCATTGCCC	0.562000														172			138		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713174	70713174	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:70713174C>T	uc010ttg.2	-	0	1345	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ATAAAGATTTCCCCCAATCTT	0.458000														18			37		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113852011	113852011	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:113852011C>T	uc010rxb.2	+	3	602	c.369C>T	c.(367-369)gtC>gtT	p.V123V	HTR3A_uc010rxa.2_Silent_p.V123V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.V102V	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	117					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCATCTGGGTCCCGGACATTC	0.532000														26			16		0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	944609	944609	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:944609C>T	uc002wej.3	-	3	664	c.564G>A	c.(562-564)agG>agA	p.R188R	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	188	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TGGGACATTTCCTTGACTCAG	0.667000														30			38		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392713	74392713	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:74392713G>A	uc002jrm.4	-	13	2370	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	UBE2O_uc002jrn.4_Missense_Mutation_p.P769S|UBE2O_uc002jrl.4_Missense_Mutation_p.P373S	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	769							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGTCCTCAGGGGCCACCGGC	0.652000														88			68		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28577002	28577002	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:28577002C>T	uc002kwj.4	-	14	2403	c.2248G>A	c.(2248-2250)Gga>Aga	p.G750R	DSC3_uc002kwi.4_Missense_Mutation_p.G750R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	750					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTCATAAATCCATTGGCAGAG	0.368000														50			11		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60991839	60991839	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:60991839T>A	uc002ycw.2	-	4	487	c.290A>T	c.(289-291)aAc>aTc	p.N97I		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	97										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GCGCTGCAGGTTCTGCAGGTG	0.677000														12			3		0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74219703	74219703	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:74219703C>T	uc002awc.1	+	0	915	c.579C>T	c.(577-579)ccC>ccT	p.P193P	LOC100287616_uc021spy.1_Intron|LOC100287616_uc002awa.2_Intron|LOC100287616_uc021spz.1_Intron|LOC100287616_uc021sqa.1_Intron|LOC100287616_uc002awb.2_Intron	NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	193					protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACTACGACCCCGCGTCGCGGA	0.726000														34			30		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163274	211163274	+	Silent	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:211163274T>A	uc002vec.3	-	2	303	c.174A>T	c.(172-174)gcA>gcT	p.A58A	MYL1_uc002veb.3_Silent_p.A14A	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	58	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		ACAGGAGAAATGCCTCCTTGA	0.418000														36			9		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878393	5878393	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5878393G>A	uc010qzr.2	-	0	540	c.540C>T	c.(538-540)atC>atT	p.I180I	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTATGAGGGATGATACGAT	0.507000														66			46		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622577	38622577	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:38622577C>T	uc021wvo.1	-	15	3125	c.3073G>A	c.(3073-3075)Gaa>Aaa	p.E1025K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvq.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvr.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvt.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvu.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvv.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvj.1_Missense_Mutation_p.E891K|SCN5A_uc021wvi.1_Missense_Mutation_p.E891K|SCN5A_uc021wvw.1_Missense_Mutation_p.E636K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1025					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AACCGTGTTTCCTTGCGGGTG	0.682000														28			8		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459861	141459861	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:141459861C>T	uc002tvj.1	-	39	7123	c.6151_splice	c.e39-1	p.E2051_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2051					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTTATTTTCCTAAATATCG	0.353000										TSP Lung(27;0.18)				79			16		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156378773	156378773	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:156378773G>A	uc003lwh.2	-	2	486	c.429C>T	c.(427-429)acC>acT	p.T143T	TIMD4_uc010jii.2_Silent_p.T143T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	143	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGTGGTGGTGGTTGCTGTTC	0.498000														182			93		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397398	57397398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:57397398G>A	uc001sml.2	-	1	1457	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L	ZBTB39_uc021qzg.1_Missense_Mutation_p.P435L	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D434N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CCCTGGCAGGGGATCGTTGGG	0.532000														28			16		0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61846259	61846259	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:61846259C>T	uc011cqr.2	+	24	2566	c.2436C>T	c.(2434-2436)ccC>ccT	p.P812P	IPO11_uc003jtc.3_Silent_p.P772P|IPO11_uc003jtd.1_Non-coding_Transcript	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	772						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CGATTTTACCCTATGTTTTCA	0.343000														16			21		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460509	110460509	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:110460509C>T	uc003yne.3	+	38	6018	c.5914C>T	c.(5914-5916)Cat>Tat	p.H1972Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1972	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGTGGGAGATCATGCTGGGGG	0.408000										HNSCC(38;0.096)				11			11		0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49434759	49434759	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:49434759G>A	uc002xvq.3	+	1	256	c.192G>A	c.(190-192)gtG>gtA	p.V64V	BCAS4_uc002xvp.1_Silent_p.V64V|BCAS4_uc002xvr.3_Silent_p.V64V|BCAS4_uc002xvs.3_Silent_p.V64V	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA.	64						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CGAAGGAGGTGGAGGAGACCA	0.507000											OREG0026033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			13		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50273611	50273611	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:50273611C>T	uc002xwg.1	-	13	1372	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	ATP9A_uc010gih.1_Missense_Mutation_p.E322K|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	458					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCACGGCTTCGTGCACGCGG	0.597000														60			11		0	0	1	0	0
FDX1	2230	broad.mit.edu	37	11	110327751	110327751	+	Silent	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:110327751G>C	uc001pkx.3	+	2	604	c.420G>C	c.(418-420)ctG>ctC	p.L140L		NM_004109	NP_004100	P10109	ADX_HUMAN	Homo sapiens ferredoxin 1 (FDX1), nuclear gene encoding mitochondrial protein, mRNA.	140	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGCTCGATCTGGCATATGGAC	0.388000														73			41		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391964	117391965	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:117391964_117391965CC>TT	uc001prh.1	-	5	1275_1276	c.1273_1274GG>AA	c.(1273-1275)ggg>AAg	p.G425K	DSCAML1_uc001pri.1_Missense_Mutation_p.G229K	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	365	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGCTGAGCCCGCGGATGGAG	0.644000														94			61		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751676	19751676	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:19751676G>A	uc009zzj.3	-	3	552	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	149					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCAGAGATGCGAACCCAGAGC	0.567000														65			47		0	0	1	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530324	84530324	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:84530324C>T	uc011lst.2	+	3	346	c.245C>T	c.(244-246)tCc>tTc	p.S82F						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		CCTCCTGCTTCCTGCAGTCCC	0.562000														2			4		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201559	48201559	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:48201559C>T	uc002eff.1	-	27	4254	c.3904G>A	c.(3904-3906)Gat>Aat	p.D1302N	ABCC11_uc002efg.1_Missense_Mutation_p.D1302N|ABCC11_uc002efh.1_Missense_Mutation_p.D1264N|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1302	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTGGCTTCATCGATAAGGATG	0.542000														83			54		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242396268	242396268	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:242396268C>T	uc002wbi.2	+	13	1682	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	FARP2_uc010zoq.2_Silent_p.S506S|FARP2_uc010zor.2_Silent_p.S506S	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	506	Pro-rich.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGGGCTCATCCCCACTCCTGA	0.637000														46			25		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50226648	50226648	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:50226648G>A	uc002xwg.1	-	23	2628	c.2628C>T	c.(2626-2628)ctC>ctT	p.L876L	ATP9A_uc010gih.1_Silent_p.L740L|ATP9A_uc002xwf.1_Silent_p.L48L	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	876					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCCAATGATGAGGAATCCTT	0.433000														32			14		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31351000	31351000	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:31351000G>A	uc002hht.3	-	5	2101	c.1228C>T	c.(1228-1230)Ctc>Ttc	p.L410F	ASIC2_uc002hhu.3_Missense_Mutation_p.L359F	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	359					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GTCCTGCAGAGACAGTAATTG	0.517000														55			41		0	0	1	0	0
LOC441455	441455	broad.mit.edu	37	9	99488579	99488579	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:99488579C>T	uc011luo.1	+	0		c.477C>T								Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA.																		GTTCATGTATCTGTCTTATTA	0.453000														6			14		0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139373	142139373	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142139373G>A	uc003vyt.3	-	1	297	c.252C>T	c.(250-252)ttC>ttT	p.F84F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TCTCTGCAGAGAACCGATCAT	0.562000														72			52		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973937	29973937	+	Nonstop_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:29973937A>G	uc004dby.2	+	10	2599	c.2091A>G	c.(2089-2091)tgA>tgG	p.*697W		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	0					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGATATGGTGACAGAAAAGCA	0.512000														2			15		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627177	108627177	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:108627177G>A	uc002tdv.3	+	8	1879	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	SLC5A7_uc010ywm.2_Missense_Mutation_p.E288K|SLC5A7_uc010fjj.3_Missense_Mutation_p.E535K|SLC5A7_uc010ywn.2_Missense_Mutation_p.E422K	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	535					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGTCAAAAATGAAAATATTAA	0.373000														10			8		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765652	61765652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:61765652C>T	uc003xue.3	+	30	6860	c.6368C>T	c.(6367-6369)tCc>tTc	p.S2123F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2123					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTGAGTTATCCTTCTTGGAT	0.502000														17			17		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956429	128956429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:128956429G>A	uc003kvb.1	+	8	1579	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	527	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K526N(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGTAGCAAGGAAGATTTGGA	0.403000														83			77		0	0	1	0	0
CAMKMT	79823	broad.mit.edu	37	2	44617386	44617386	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:44617386T>C	uc002rum.2	+	2	422	c.318T>C	c.(316-318)aaT>aaC	p.N106N	CAMKMT_uc002rul.2_Silent_p.N106N	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), mRNA.	106						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						CTAGGCATAATAGTGGATCCT	0.303000														35			12		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152381774	152381774	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:152381774T>A	uc021vrb.1	-	121	17101	c.17072A>T	c.(17071-17073)aAg>aTg	p.K5691M	NEB_uc002txr.3_Missense_Mutation_p.K2157M|NEB_uc002txu.3_Missense_Mutation_p.K7392M|NEB_uc021vrc.1_Missense_Mutation_p.K7392M|NEB_uc010fnx.3_Missense_Mutation_p.K5679M|NEB_uc021vrd.1_Missense_Mutation_p.K5691M|NEB_uc002txt.4_Missense_Mutation_p.K196M	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5691					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.K5691N(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACAAACTTCTTTTTGTAATT	0.398000														20			15		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149336	34149336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:34149336G>A	uc004ddg.3	-	0	1112	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	354								p.P354T(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCTCGGAAGGCTCCGAGCGG	0.652000														34			17		0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37817337	37817337	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:37817337C>T	uc002hsd.3	+	13	1342	c.1139_splice	c.e13+1	p.R380_splice	STARD3_uc010wei.2_Splice_Site_p.R380_splice|STARD3_uc002hse.3_Splice_Site_p.R362_splice|STARD3_uc010weh.2_Splice_Site|STARD3_uc002hsf.3_Splice_Site_p.R246_splice	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	380	START.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAAATATGTCCGGTGAGCCTC	0.617000														25			20		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382680	22382680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:22382680G>A	uc001yuc.1	+	6	1189	c.208G>A	c.(208-210)Gat>Aat	p.D70N	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.D70N	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCCTTCCTGGATGCATCCTA	0.473000														115			19		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92495273	92495274	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:92495273_92495274CC>TT	uc001pdj.4	+	3	3938_3939	c.3921_3922CC>TT	c.(3919-3924)gaccct>gaTTct	p.P1308S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1308	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTTTATTGACCCTAAAACTGG	0.450000										TCGA Ovarian(4;0.039)				47			32		0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017300	200017300	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:200017300C>T	uc001gvb.3	+	5	670	c.464_splice	c.e5-1	p.A155_splice	NR5A2_uc001gvc.3_Splice_Site_p.A109_splice|NR5A2_uc009wzh.3_Splice_Site_p.A115_splice|NR5A2_uc010pph.2_Splice_Site_p.A83_splice	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	155					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CCCCCAACAGCTGTAAGGGCC	0.473000														30			51		0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27845079	27845080	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:27845079_27845080GG>AA	uc003xgj.3	-	1	664_665	c.53_54CC>TT	c.(52-54)tcc>tTT	p.S18F	SCARA5_uc010luz.3_Missense_Mutation_p.S18F|SCARA5_uc003xgk.3_Missense_Mutation_p.S18F|SCARA5_uc003xgl.3_Missense_Mutation_p.S18F	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	18					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCTCACAGATGGAGCTGGTGTC	0.559000														59			32		0	0	1	0	0
EXD2	55218	broad.mit.edu	37	14	69704396	69704396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:69704396C>T	uc001xky.3	+	8	1643	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	EXD2_uc001xkt.3_Missense_Mutation_p.S341F|EXD2_uc001xkv.3_Missense_Mutation_p.S466F|EXD2_uc001xkw.3_Missense_Mutation_p.S341F|EXD2_uc001xku.3_Missense_Mutation_p.S211F|EXD2_uc001xkx.3_Missense_Mutation_p.S341F|EXD2_uc010aqt.3_Missense_Mutation_p.S466F|EXD2_uc010tte.2_Missense_Mutation_p.S466F	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	341					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CATGCCATTTCCAACTACTAT	0.572000														1			33		0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172834968	172834968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:172834968G>A	uc003fin.4	-	1	738	c.554C>T	c.(553-555)tCt>tTt	p.S185F		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	185					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TCTATAGCAAGAGCTGGCATC	0.418000														58			50		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58570991	58570991	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:58570991C>T	uc002ybe.3	+	11	2081	c.1770C>T	c.(1768-1770)gtC>gtT	p.V590V	CDH26_uc002ybf.1_Silent_p.V170V|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	590					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AGCAAACTGTCCATGTAAGGA	0.517000														36			21		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182403989	182403989	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:182403989G>A	uc002unx.3	-	12	1547	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.F456F|CERKL_uc010zfm.2_Silent_p.F438F|CERKL_uc002unz.3_Silent_p.F204F|CERKL_uc002uoa.3_Silent_p.F387F|CERKL_uc002uob.3_Silent_p.F204F|CERKL_uc002uoc.3_Silent_p.F343F|CERKL_uc021vth.1_Silent_p.F251F|CERKL_uc021vti.1_Silent_p.F204F|CERKL_uc021vtj.1_Silent_p.F159F|CERKL_uc021vtk.1_Silent_p.F204F|CERKL_uc021vtl.1_Silent_p.F159F|CERKL_uc021vtm.1_Silent_p.F251F|CERKL_uc002uod.2_Silent_p.F251F|CERKL_uc002unw.3_Silent_p.F52F	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	482					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATGGAAAATTGAACTAAAAAT	0.353000														19			19		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39422666	39422666	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:39422666C>T	uc001uwv.3	+	7	6547	c.6238C>T	c.(6238-6240)Cgt>Tgt	p.R2080C	FREM2_uc001uww.3_Missense_Mutation_p.R166C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2080	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCAGCCTGTTCGTGTTGTCAT	0.478000														98			44		0	0	1	0	0
TMEM178	130733	broad.mit.edu	37	2	39893167	39893167	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:39893167C>T	uc002rrt.3	+	0	133	c.53C>T	c.(52-54)tCc>tTc	p.S18F	TMEM178_uc021vgg.1_Intron|TMEM178_uc010fam.2_Missense_Mutation_p.S18F	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	Homo sapiens transmembrane protein 178 (TMEM178), transcript variant 1, mRNA.	18						integral to membrane				endometrium(1)|large_intestine(5)|lung(5)	11		all_hematologic(82;0.248)				AGCCTGTGCTCCCTGGGGCTG	0.766000														6			7		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695177	42695177	+	Missense_Mutation	SNP	C	T	T	rs45501892		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:42695177C>T	uc021xxv.1	+	4	583	c.446C>T	c.(445-447)tCt>tTt	p.S149F	GHR_uc003jmt.3_Missense_Mutation_p.S142F|GHR_uc003jmu.3_Missense_Mutation_p.S142F|GHR_uc003jmv.2_Missense_Mutation_p.S142F|GHR_uc021xxw.1_Missense_Mutation_p.S142F|GHR_uc021xxx.1_Missense_Mutation_p.S142F|GHR_uc021xxy.1_Missense_Mutation_p.S142F|GHR_uc021xxz.1_Missense_Mutation_p.S142F|GHR_uc021xya.1_Missense_Mutation_p.S142F|GHR_uc021xyb.1_Missense_Mutation_p.S142F|GHR_uc021xyc.1_Missense_Mutation_p.S142F|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.S120F	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	142	Fibronectin type-III.		P -> Q (in LARS; disrupts GH binding).		2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGTGTTTCTCTGTTGATGAA	0.358000														36			11		0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150563997	150563997	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:150563997C>T	uc003ltq.3	-	7	744	c.621G>A	c.(619-621)gaG>gaA	p.E207E	CCDC69_uc010jhu.3_Silent_p.E60E|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	207										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGATTTTTCTCTTTCTATA	0.473000														13			12		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502613	32502614	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:32502613_32502614GG>AA	uc002yow.1	-	25	4434_4435	c.3962_3963CC>TT	c.(3961-3963)tcc>tTT	p.S1321F	TIAM1_uc011adk.1_Missense_Mutation_p.S1321F|TIAM1_uc011adl.1_Missense_Mutation_p.S1261F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1321	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCATAAATGGAAAGCCTGTG	0.530000														77			62		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714114	32714114	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:32714114C>T	uc003obx.3	+	3	769	c.711C>T	c.(709-711)gtC>gtT	p.V237V		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	237					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGCACTGTCTTCATCATCC	0.532000														90			41		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167589702	167589702	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:167589702G>A	uc010jjd.3	+	12	2482	c.2482G>A	c.(2482-2484)Ggg>Agg	p.G828R	ODZ2_uc003lzr.4_Missense_Mutation_p.G605R|ODZ2_uc003lzt.4_Missense_Mutation_p.G201R|ODZ2_uc010jje.3_Missense_Mutation_p.G99R	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CGGCTGGAGAGGGCCCGGATG	0.557000														27			20		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613784	18613784	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:18613784G>A	uc002znw.1	+	3	1600	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	TUBA8_uc002znv.2_Missense_Mutation_p.E411K|TUBA8_uc021wkt.1_Missense_Mutation_p.E345K	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	411					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GTATGTGGGAGAGGGGATGGA	0.542000														52			37		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322349	103322349	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:103322349G>A	uc002tca.3	+	10	2164	c.2022G>A	c.(2020-2022)acG>acA	p.T674T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	674						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTAAAAATACGAAGCTTCCAG	0.303000														25			14		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143675	42143675	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:42143675G>A	uc010zwh.2	+	4	539	c.463G>A	c.(463-465)Gat>Aat	p.D155N	L3MBTL1_uc010ggk.2_Missense_Mutation_p.D87N|L3MBTL1_uc002xkm.3_Missense_Mutation_p.D87N|L3MBTL1_uc010ggl.3_Missense_Mutation_p.D87N|L3MBTL1_uc002xkl.3_Missense_Mutation_p.D87N	NM_032107	NP_115479	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant II, mRNA.	87					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCCTCCAGAAGATCCCAATCA	0.647000														39			16		0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1586955	1586955	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:1586955G>A	uc001lts.2	-	1	230	c.102C>T	c.(100-102)tcC>tcT	p.S34S	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	34	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		ACTCCACGAAGGAGCGGCTGT	0.662000														122			71		0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151775058	151775058	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:151775058G>A	uc001ezf.1	-	1	313	c.123C>T	c.(121-123)ccC>ccT	p.P41P	LINGO4_uc021oyu.1_Silent_p.P41P	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	41	LRRNT.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCACAGCCTGGGGCTGGGAGG	0.667000														6			15		0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540711	31540711	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:31540711C>T	uc011dnu.1	+	2	319	c.106C>T	c.(106-108)Cct>Tct	p.P36S	LTA_uc003nue.1_Missense_Mutation_p.P36S|LTA_uc003nuf.3_Non-coding_Transcript|LTA_uc003nuh.3_5'UTR|LTA_uc003nug.3_5'UTR|LTA_uc010jsr.3_Non-coding_Transcript|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	36					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTAGGGGCTCCCTGGTGTTGG	0.632000														25			36		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139576745	139576745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:139576745G>A	uc021zfy.1	-	6	1198	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	345						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ACTTTCGCCTGAAGTTTCCAC	0.498000														26			24		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17657611	17657611	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:17657611G>A	uc001baj.2	+	1	268	c.240G>A	c.(238-240)atG>atA	p.M80I	PADI4_uc009vpc.2_Missense_Mutation_p.M80I	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	80					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCTGACGATGAAAGTGGCCA	0.602000														63			9		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63548003	63548003	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:63548003C>T	uc002lkb.3	+	11	2657	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	CDH7_uc002ljz.3_Missense_Mutation_p.S744L	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	744					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTTGCTGAATCACTCAGCTCT	0.453000														74			28		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675049	40675049	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:40675049G>A	uc001zll.3	+	0	128	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	C15orf23_uc001zlo.3_Missense_Mutation_p.E5K|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.E5K	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	5						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GGCGGCTCCCGAAGCCCCGCC	0.582000														2			4		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795280	30795280	+	Missense_Mutation	SNP	C	T	T	rs147878270	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:30795280C>T	uc003tbs.1	+	2	621	c.605C>T	c.(604-606)cCg>cTg	p.P202L	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.P201L	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	202						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CTTCGGCTCCCGTCCTACATG	0.607000														47			34		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223256	35223256	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:35223256C>T	uc001bxu.3	+	1	425	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	GJB5_uc021okz.1_Missense_Mutation_p.H109Y|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	109					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCGAGAAGCCCATGGGGAGAA	0.622000														47			93		0	0	1	0	0
WDR4	10785	broad.mit.edu	37	21	44283566	44283566	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:44283566G>A	uc002zci.3	-	3	510	c.437C>T	c.(436-438)tCt>tTt	p.S146F	WDR4_uc002zck.1_Missense_Mutation_p.S146F|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Missense_Mutation_p.S146F|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	146					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TAACAGCATAGACAGGTGCCC	0.612000														54			36		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067305	44067305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:44067305C>T	uc002ijr.4	+	7	1566	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	MAPT_uc010dau.3_Missense_Mutation_p.P415L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	415					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCCAAACACCCCACTCCTGGT	0.468000														208			117		0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112749	44112749	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:44112749C>T	uc010qfc.2	+	4	1452	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	ZNF485_uc010qfd.2_Missense_Mutation_p.P329S	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAAGCTTTTCCCCGAAGTTC	0.398000														5			17		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132458544	132458544	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:132458544C>T	uc004exc.1	-	2	552	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	GPC4_uc011mvg.1_Missense_Mutation_p.E44K	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	114					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TCTGCATTTTCAAGTAGTTCT	0.303000														66			60		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417903	150417903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150417903C>T	uc003whq.3	+	2	951	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GCTGAAGTCCCCCAGGAGCTG	0.746000														11			7		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117723978	117723978	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:117723978G>A	uc001twn.2	-	5	1932	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	NOS1_uc021ren.1_Silent_p.I71I|NOS1_uc021reo.1_Silent_p.I71I|NOS1_uc001twm.2_Silent_p.I407I	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	407					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGCCCCATAGATGAGCTCTG	0.552000														21			25		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307132	162307132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:162307132G>A	uc003iqh.3	-	15	2747	c.2311C>T	c.(2311-2313)Ctc>Ttc	p.L771F	FSTL5_uc003iqi.3_Missense_Mutation_p.L770F|FSTL5_uc010iqv.3_Missense_Mutation_p.L761F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	771						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAGAAGAGAGCTCCACAAAG	0.458000														25			59		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182339987	182339987	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:182339987G>A	uc002unu.3	+	3	1291	c.528G>A	c.(526-528)ctG>ctA	p.L176L	ITGA4_uc010zfl.1_Silent_p.L176L	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	176					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.L176L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAACAGAACTGAGTAAAAGAA	0.343000														53			28		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32550253	32550253	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:32550253C>T	uc003amd.3	-	1	326	c.285G>A	c.(283-285)ggG>ggA	p.G95G		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	95								p.G95E(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GAGGCCAAATCCCGTGCCGTC	0.368000														11			27		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095534	124095534	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:124095534G>A	uc010saf.2	+	0	137	c.137G>A	c.(136-138)gGa>gAa	p.G46E		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	46						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTGTTCTTAGGAATCTATGTG	0.507000														107			54		0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117053478	117053478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:117053478C>T	uc003pxh.3	+	13	1743	c.1612C>T	c.(1612-1614)Caa>Taa	p.Q538*		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	535					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GGATGGATTTCAACTTTAACT	0.373000														49			17		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643027	1643027	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:1643027C>T	uc009ycy.1	-	1	279	c.192G>A	c.(190-192)ggG>ggA	p.G64G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	159	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCACAGCCCCCCTTGGAAC	0.682000														191			11		0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946460	66946460	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:66946460C>T	uc002eql.3	-	10	1500	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_uc010cdy.3_Missense_Mutation_p.E436K|CDH16_uc021tjx.1_Missense_Mutation_p.E436K|CDH16_uc002eqm.3_Missense_Mutation_p.E339K	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592000														36			33		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576784	71576784	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:71576784C>T	uc002shx.3	+	1	1023	c.700C>T	c.(700-702)Cca>Tca	p.P234S	ZNF638_uc010fec.2_Missense_Mutation_p.P340S|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.P234S|ZNF638_uc002shz.3_Missense_Mutation_p.P234S|ZNF638_uc002shy.3_Missense_Mutation_p.P234S|ZNF638_uc002sia.3_Missense_Mutation_p.P234S|ZNF638_uc002sib.1_Missense_Mutation_p.P234S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	234					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCCTGAAATTCCAACTGATGA	0.378000														54			34		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371135	129371135	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:129371135G>A	uc021zfb.1	+	1	290	c.185G>A	c.(184-186)gGa>gAa	p.G62E	LAMA2_uc003qbn.3_Missense_Mutation_p.G62E|LAMA2_uc003qbo.3_Missense_Mutation_p.G62E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	62	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAGAAAAAGGACCTGAAATG	0.453000														49			16		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500280	71500280	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:71500280C>T	uc011caw.1	+	5	747	c.466C>T	c.(466-468)Cct>Tct	p.P156S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	156					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCTCAACCCCCTCAGGTGAG	0.493000														19			25		0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132694079	132694079	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:132694079G>A	uc003qdf.3	-	2	568	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	MOXD1_uc003qde.3_Missense_Mutation_p.P89S	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	157					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.G156G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGTACTTGGGACCAGCTTCT	0.483000														66			19		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038517	75038517	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:75038517C>T	uc001dgg.3	-	13	3096	c.2877G>A	c.(2875-2877)atG>atA	p.M959I		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	959	Glu-rich.							p.M959T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGTGTCCTCCATGGGTCCTG	0.527000														112			16		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159488277	159488277	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:159488277C>T	uc002tzv.3	+	7	1426	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	PKP4_uc002tzt.1_Missense_Mutation_p.S241F|PKP4_uc002tzu.3_Missense_Mutation_p.S389F|PKP4_uc002tzw.3_Missense_Mutation_p.S389F|PKP4_uc002tzx.3_Missense_Mutation_p.S47F|PKP4_uc002tzy.1_Missense_Mutation_p.S47F|PKP4_uc002tzz.1_Missense_Mutation_p.S387F|PKP4_uc002uaa.3_Missense_Mutation_p.S241F	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	389					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTACGGAGTTCCTATGCTAGT	0.438000										HNSCC(62;0.18)				72			53		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926383	157926383	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:157926383G>A	uc003wno.3	-	8	1663	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PTPRN2_uc003wnp.3_Silent_p.I497I|PTPRN2_uc003wnq.3_Silent_p.I514I|PTPRN2_uc003wnr.3_Silent_p.I476I|PTPRN2_uc011kwa.2_Silent_p.I537I	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	514						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I514I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGTCTGTCACGATGTAGCCCC	0.657000														54			32		0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121351032	121351032	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:121351032C>T	uc003eeh.4	-	13	1366	c.1241_splice	c.e13-1	p.G414_splice	HCLS1_uc011bjj.2_Splice_Site_p.G377_splice	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	414					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCTGATGATCCTGCATAATGA	0.512000														35			18		0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139181066	139181066	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:139181066C>T	uc003eth.3	-	1	191	c.140G>A	c.(139-141)gGt>gAt	p.G47D		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	47					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GAAGTTATCACCATCTTGATC	0.428000														40			32		0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336433	3336433	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:3336433G>A	uc010vre.2	-	0	703	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	235					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GGGACCTTGAGGATGGAGGAG	0.473000														8			12		0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31090062	31090062	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:31090062G>A	uc004dcl.1	-	0	109	c.9C>T	c.(7-9)acC>acT	p.T3T		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	3					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ACGGCTGGGCGGTGGCCATGG	0.632000														18			14		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43092991	43092991	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:43092991G>A	uc002oud.2	-	3	1005	c.903C>T	c.(901-903)acC>acT	p.T301T	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	301	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGAGTTAGTGGTGTGGCAGG	0.488000														66			38		0	0	1	0	0
KLK4	9622	broad.mit.edu	37	19	51412005	51412005	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:51412005G>A	uc002pua.1	-	2	305	c.305C>T	c.(304-306)tCc>tTc	p.S102F	KLK4_uc002pty.1_Missense_Mutation_p.S53F|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Missense_Mutation_p.S7F|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Missense_Mutation_p.S7F|KLK4_uc002pud.1_Missense_Mutation_p.S7F	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	102	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGCCGTACGGAGAGGCTGGC	0.617000														45			11		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54968997	54968997	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:54968997C>T	uc001sgd.2	+	10	1573	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	PDE1B_uc010soz.2_Missense_Mutation_p.R257C|PDE1B_uc010spa.1_Missense_Mutation_p.R353C|PDE1B_uc001sge.3_Missense_Mutation_p.R374C|PDE1B_uc001sgf.3_Missense_Mutation_p.R257C|PDE1B_uc009znq.3_Missense_Mutation_p.R190C	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	394	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGAATTCTTCCGTCAGGTAGC	0.572000														58			19		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945979	72945979	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:72945979C>T	uc021qna.1	+	0	775	c.775C>T	c.(775-777)Ctg>Ttg	p.L259L	P2RY2_uc001otk.3_Silent_p.L259L|P2RY2_uc001otj.3_Silent_p.L259L|P2RY2_uc001otl.3_Silent_p.L259L	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	259					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTCTGCTTCCTGCCATTCCA	0.642000														77			32		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347402	71347402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:71347402C>T	uc011cat.2	+	3	1229	c.941C>T	c.(940-942)tCc>tTc	p.S314F	MUC7_uc011cau.2_Missense_Mutation_p.S314F|MUC7_uc003hfj.3_Missense_Mutation_p.S314F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	314	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCTAATTCTTCCCCAACTACT	0.512000														86			146		0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101159207	101159207	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:101159207G>A	uc011mrl.2	-	2	568	c.218C>T	c.(217-219)tCa>tTa	p.S73L	ZMAT1_uc004ein.3_5'UTR|ZMAT1_uc011mrm.2_5'UTR	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTCATAATGTGAAATTCTTTG	0.343000														2			16		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1068708	1068708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:1068708G>A	uc002lqz.1	+	1	617	c.386G>A	c.(385-387)gGc>gAc	p.G129D	HMHA1_uc010xgd.1_Missense_Mutation_p.G145D|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	129					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGCTGAGGGCCTTGAGAAA	0.672000														47			39		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76964646	76964646	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:76964646C>T	uc001xsr.3	+	8	1518	c.1147C>T	c.(1147-1149)Cat>Tat	p.H383Y	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.H383Y	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	383						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GAGCCAGCGCCATGAGGAGCC	0.617000														8			41		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692146	116692146	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:116692146C>T	uc001pps.1	-	2	732	c.628G>A	c.(628-630)Gtc>Atc	p.V210I		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCAATCTTGACTTTGAATTCG	0.617000														124			81		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258556	9258556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:9258556C>T	uc002knv.3	+	8	5555	c.5291C>T	c.(5290-5292)tCc>tTc	p.S1764F	ANKRD12_uc002knw.3_Missense_Mutation_p.S1741F|ANKRD12_uc002knx.3_Missense_Mutation_p.S1741F|ANKRD12_uc010dkx.1_Missense_Mutation_p.S1471F	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1764						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GACAGTGAATCCTCATCTCCT	0.393000														23			18		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584802	30584802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:30584802G>A	uc002wxe.3	+	2	1456	c.1282G>A	c.(1282-1284)Ggc>Agc	p.G428S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	428						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGCGCTGGGCATATTCTT	0.587000														98			41		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54786195	54786195	+	Missense_Mutation	SNP	C	T	T	rs61735063	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:54786195C>T	uc004dtj.2	-	6	1099	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	357	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TTACAGCCATCGGCTTCCATG	0.498000														3			15		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84311136	84311136	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:84311136G>A	uc021zcf.1	-	14	1208	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.S391F|SNAP91_uc011dze.2_Missense_Mutation_p.S391F|SNAP91_uc003pkc.3_Missense_Mutation_p.S391F|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S356F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	393	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)		AGAGGGAACAGAGGAAAGTGC	0.448000														25			15		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233995348	233995348	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:233995348G>A	uc010zmo.2	+	4	808	c.655G>A	c.(655-657)Gag>Aag	p.E219K	INPP5D_uc010zmp.2_Missense_Mutation_p.E218K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	219					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCTCTGCAAGGAGCTCTATGG	0.577000														18			15		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19203940	19203940	+	Silent	SNP	C	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:19203940C>G	uc001bbb.3	-	9	1383	c.1107G>C	c.(1105-1107)ctG>ctC	p.L369L	ALDH4A1_uc010ocu.2_Silent_p.L309L|ALDH4A1_uc001bbc.3_Silent_p.L369L|ALDH4A1_uc021ohl.1_Silent_p.L369L	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	369					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGTGCTCCTCCAGCAGCCGCC	0.682000														12			5		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66506047	66506047	+	Silent	SNP	G	A	A	rs147553785		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:66506047G>A	uc002lkk.2	+	4	934	c.711G>A	c.(709-711)acG>acA	p.T237T	CCDC102B_uc002lki.2_Silent_p.T237T|CCDC102B_uc002lkj.1_Silent_p.T237T	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	237										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACGGTGAAACGAAAACTGGGC	0.373000														34			19		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132229920	132229920	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:132229920G>A	uc003eor.3	+	43	5190	c.5125G>A	c.(5125-5127)Gca>Aca	p.A1709T		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1709							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGTTCCAAAAGCATTTGCTGC	0.413000														92			51		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760566	176760566	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:176760566C>T	uc001gkz.3	+	18	6132	c.4968C>T	c.(4966-4968)ccC>ccT	p.P1656P	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1656	Poly-Pro.|Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCCCACCACCCCCCTCAGAGC	0.428000														23			42		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988066	113988066	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:113988066C>T	uc003ynu.3	-	7	1501	c.1342_splice	c.e7+1	p.V448_splice	CSMD3_uc003ynt.3_Splice_Site_p.V408_splice|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	448						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCCAATACCTCTATGAGTA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				84			44		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870756	51870756	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:51870756G>A	uc002xwo.3	+	1	1646	c.759G>A	c.(757-759)acG>acA	p.T253T	TSHZ2_uc021wex.1_Silent_p.T250T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	253					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCAGACCCACGAGCTATTCAA	0.493000														41			9		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376088	376088	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:376088C>T	uc001lpb.3	+	11	1119	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	370						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTGTCCTTCGTTTATCCCA	0.682000														15			5		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166411	9166411	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:9166411G>A	uc003brf.1	-	1	934	c.258C>T	c.(256-258)ttC>ttT	p.F86F	SRGAP3_uc003brg.1_Silent_p.F86F|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Silent_p.F86F	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	86	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTTCTTACTTGAACTGGTGCT	0.592000			T	RAF1	pilocytic astrocytoma									37			30		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217164	130217164	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:130217164C>T	uc004evz.3	+	2	624	c.279C>T	c.(277-279)acC>acT	p.T93T	ARHGAP36_uc004ewa.3_Silent_p.T81T|ARHGAP36_uc004ewb.3_Silent_p.T62T|ARHGAP36_uc004ewc.3_5'Flank	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	93					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GTCCGAACACCTTGGATAAGT	0.413000														7			39		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540643	55540643	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:55540643C>T	uc003xsd.1	+	3	4349	c.4201C>T	c.(4201-4203)Ctt>Ttt	p.L1401F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1401					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTCCTGTGGCCTTTGCCTAAG	0.318000														25			23		0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716274	153716274	+	Missense_Mutation	SNP	C	A	A	rs144362624		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:153716274C>A	uc022cig.1	-	0	1006	c.1006G>T	c.(1006-1008)Gtg>Ttg	p.V336L	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.V307L|SLC10A3_uc004flq.3_Missense_Mutation_p.V336L|SLC10A3_uc004flp.3_Missense_Mutation_p.V336L	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	336					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCACGCCCACGGCTATGGGG	0.607000														13			34		4.74835e-14	4.79983e-14	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7036045	7036045	+	Missense_Mutation	SNP	C	T	T	rs143022454	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:7036045C>T	uc002knm.3	-	12	1874	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	LAMA1_uc010wzj.2_Missense_Mutation_p.D70N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	594	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCGGAATATCGTAGGACACC	0.443000														35			18		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611165	62611165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:62611165G>A	uc003peg.2	-	4	842	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGAGCTGTGGGAGCTATTCTG	0.408000														96			10		0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456805	40456805	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:40456805C>T	uc004det.3	+	4	525	c.423C>T	c.(421-423)aaC>aaT	p.N141N	ATP6AP2_uc010nhc.3_Non-coding_Transcript|ATP6AP2_uc011mkl.2_Silent_p.N65N|ATP6AP2_uc011mkm.2_Silent_p.N109N|ATP6AP2_uc011mkn.2_Intron|ATP6AP2_uc004deu.1_Silent_p.N6N	NM_005765	NP_005756	O75787	RENR_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 2 (ATP6AP2), mRNA.	141					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						GGAAGGCAAACTCAGTGTTTG	0.413000														17			39		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11070523	11070523	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:11070523T>C	uc010hdq.3	+	10	1592	c.1181T>C	c.(1180-1182)aTt>aCt	p.I394T		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	394					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATGCTGGGCATTGACAGCCAG	0.637000														28			18		0	0	1	0	0
TFAP4	7023	broad.mit.edu	37	16	4310150	4310150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:4310150G>A	uc010uxg.2	-	5	1017	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	255					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACCGAGGAGGGGCCCATGGTG	0.622000														48			39		0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88705706	88705706	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:88705706C>T	uc002fla.3	+	1	373	c.324C>T	c.(322-324)ccC>ccT	p.P108P		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	108					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCATCTCACCCTGGAGATACC	0.701000														25			8		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56078574	56078574	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:56078574C>T	uc010giw.1	-	9	1869	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K	CTCFL_uc010gix.1_Silent_p.K586K|CTCFL_uc002xym.2_Silent_p.K586K|CTCFL_uc010gjb.1_Silent_p.K586K|CTCFL_uc010gja.1_Silent_p.K536K|CTCFL_uc010gjc.1_Silent_p.K586K|CTCFL_uc010gjd.1_Silent_p.K586K|CTCFL_uc010gje.3_Silent_p.K586K|CTCFL_uc010gjg.3_Silent_p.K318K|CTCFL_uc010gjf.3_Silent_p.K381K|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	586					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTGCTTCCTCTTTCTTGTTC	0.507000														102			52		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38457541	38457541	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:38457541C>T	uc003tgu.3	-	16	1498	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	AMPH_uc003tgv.3_Intron|AMPH_uc003tgt.3_Intron|AMPH_uc003tgw.1_Intron|AMPH_uc010kxl.1_Intron	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	428					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGAGCCTGTTCAGATTCAGCC	0.473000														105			25		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3735152	3735152	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:3735152G>A	uc001lyh.3	-	18	2894	c.2473C>T	c.(2473-2475)Cgc>Tgc	p.R825C	NUP98_uc001lyi.3_Missense_Mutation_p.R825C|NUP98_uc001lyj.2_Missense_Mutation_p.R825C|NUP98_uc001lyk.2_Missense_Mutation_p.R842C	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	842	Peptidase S59.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCAGCAAGGCGATCTGGGCTC	0.403000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									39			26		0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216755	78216755	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:78216755C>T	uc022bzl.1	+	0	738	c.738C>T	c.(736-738)ttC>ttT	p.F246F	P2RY10_uc004ede.3_Silent_p.F246F|P2RY10_uc004edf.3_Silent_p.F246F	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	246						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GGATGGTGTTCATGTGTGCTG	0.443000														6			28		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116931016	116931016	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:116931016T>C	uc001lcg.3	+	7	1700	c.1314T>C	c.(1312-1314)taT>taC	p.Y438Y	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Silent_p.Y438Y	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	438						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGCAATATATGGTTATACAA	0.323000														46			5		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158497676	158497676	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:158497676G>A	uc003qqx.2	+	16	2417	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	SYNJ2_uc003qqw.2_Missense_Mutation_p.E771K|SYNJ2_uc003qqy.2_Missense_Mutation_p.E534K|SYNJ2_uc003qqz.2_Missense_Mutation_p.E388K|SYNJ2_uc003qra.2_Missense_Mutation_p.E114K	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	771							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGACTTTCACGAAGGAGCCAT	0.463000														49			52		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58718128	58718128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:58718128C>T	uc002qrq.1	+	4	757	c.298C>T	c.(298-300)Cct>Tct	p.P100S	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Missense_Mutation_p.P68S|ZNF274_uc002qrs.1_5'UTR|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	100					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGATCCTCTTCCTGCTGAGAG	0.502000														7			5		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137481495	137481495	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:137481495C>T	uc003lcf.1	-	23	3406	c.3351G>A	c.(3349-3351)aaG>aaA	p.K1117K		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1117					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGCAATCATCTTCCAGACTG	0.408000														21			7		0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5364307	5364307	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:5364307C>T	uc002gca.3	-	3	1002	c.801G>A	c.(799-801)caG>caA	p.Q267Q	DHX33_uc002gbz.3_Silent_p.Q38Q|DHX33_uc002gcb.3_Silent_p.Q94Q|DHX33_uc010clf.3_Intron	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	267						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GGTAATCATTCTGAGGCTGTT	0.522000														22			72		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14557315	14557315	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:14557315C>T	uc002myp.3	+	3	720	c.552C>T	c.(550-552)ctC>ctT	p.L184L	PKN1_uc002myq.3_Silent_p.L190L	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	184					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCATGCAACTCCGCCGGGCGC	0.612000														98			23		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18438769	18438769	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:18438769G>A	uc003cbh.3	-	5	2388	c.653C>T	c.(652-654)tCc>tTc	p.S218F	SATB1_uc003cbi.3_Missense_Mutation_p.S218F|SATB1_uc003cbj.3_Missense_Mutation_p.S218F	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	218					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTTCACAATGGAAGAAATCAT	0.373000														45			35		0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678411	130678411	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:130678411C>T	uc011muw.2	+	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGCCTATGACCGTGTGGTTGC	0.532000														10			63		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173646	47173646	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:47173646C>T	uc001rpi.2	-	9	975	c.576_splice	c.e9-1	p.G192_splice	SLC38A4_uc001rpj.2_Splice_Site_p.G192_splice|SLC38A4_uc009zkl.2_Splice_Site_p.G192_splice	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	192					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GTACCATTCTCTAGAAGTGAG	0.358000														21			11		0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185652	92185652	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:92185652G>A	uc001doh.3	-	8	1726	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	TGFBR3_uc009wde.3_Missense_Mutation_p.P181L|TGFBR3_uc010osy.2_Missense_Mutation_p.P362L|TGFBR3_uc001doi.3_Missense_Mutation_p.P403L|TGFBR3_uc001doj.3_Missense_Mutation_p.P403L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	404					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P404S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ATCTGGGAAAGGAAACGGAAG	0.587000														60			17		0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152415538	152415538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:152415538C>T	uc010kio.3	+	7	1612	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	ESR1_uc003qom.4_Missense_Mutation_p.S463F|ESR1_uc010kin.3_Missense_Mutation_p.S463F|ESR1_uc010kip.3_Missense_Mutation_p.S462F|ESR1_uc003qon.4_Missense_Mutation_p.S463F|ESR1_uc010kir.3_Missense_Mutation_p.S202F|ESR1_uc003qoo.4_Missense_Mutation_p.S463F|ESR1_uc010kiq.3_Missense_Mutation_p.S61F|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Missense_Mutation_p.S48F|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.S178F|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Intron|ESR1_uc011eey.2_Intron	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	463	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	ACATTTCTGTCCAGCACCCTG	0.517000														100			42		0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72316974	72316974	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:72316974C>T	uc001swu.3	+	17	2141	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	TBC1D15_uc001sww.3_Missense_Mutation_p.T443I|TBC1D15_uc010stt.2_Missense_Mutation_p.T680I|TBC1D15_uc001swv.3_Missense_Mutation_p.T672I	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	689							Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCAGATTAACACCTGCATGA	0.413000														60			28		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940198	68940198	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:68940198G>A	uc009xpn.1	-	6	1047	c.924C>T	c.(922-924)atC>atT	p.I308I	CTNNA3_uc001jmw.2_Silent_p.I308I|CTNNA3_uc001jmx.4_Silent_p.I308I|CTNNA3_uc009xpo.1_Silent_p.I168I|CTNNA3_uc001jna.2_Silent_p.I320I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	308					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAGCCCCACTGATAATGGCTT	0.478000														7			27		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978126	10978126	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:10978126G>A	uc001qyy.1	-	0	743	c.743C>T	c.(742-744)tCa>tTa	p.S248L		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	248					sensory perception of taste	integral to membrane	taste receptor activity	p.I247V(1)|p.I247L(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGTAAAACATGATATTTCTAT	0.378000														27			31		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703394	18703394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:18703394G>A	uc001bau.2	+	7	1585	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	IGSF21_uc001bav.2_Missense_Mutation_p.R222Q	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	401	Ig-like 2.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GTGCTGGAGCGGGTTCCCGCC	0.652000														44			12		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:22473063C>T	uc001yuj.2	-	6		c.265G>A								Parts of antibodies, mostly variable regions.																		TGATAGATTTCCCCAATCCAC	0.567000														248			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068671	9068671	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9068671G>A	uc002mkp.3	-	2	18979	c.18775C>T	c.(18775-18777)Ctg>Ttg	p.L6259L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6261	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6258K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTTCGCCAGTGTAGGGGTG	0.483000														56			30		0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657234	42657234	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:42657234G>A	uc001che.3	-	10	1403	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	FOXJ3_uc001chf.3_Missense_Mutation_p.S364L|FOXJ3_uc001chh.2_Missense_Mutation_p.S330L|FOXJ3_uc001chg.3_Missense_Mutation_p.S364L	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	364					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTGTGCAACCGAATTACTGCC	0.577000														189			23		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945775	72945775	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:72945775C>T	uc021qna.1	+	0	571	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	P2RY2_uc001otk.3_Missense_Mutation_p.L191F|P2RY2_uc001otj.3_Missense_Mutation_p.L191F|P2RY2_uc001otl.3_Missense_Mutation_p.L191F	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGCACCCGAGCTCTTCAGCCG	0.662000														22			17		0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3624082	3624082	+	Silent	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:3624082T>A	uc002qxw.3	+	3	259	c.153T>A	c.(151-153)atT>atA	p.I51I	RPS7_uc002qxx.3_Silent_p.I51I|RPS7_uc002qxy.3_5'Flank	NM_001011	NP_001002	P62081	RS7_HUMAN	Homo sapiens ribosomal protein S7 (RPS7), mRNA.	51					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		TTTAGGAAATTGAAGTTGGTG	0.393000														76			16		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139316456	139316456	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:139316456G>A	uc003vvf.4	-	2	1390	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	HIPK2_uc003vvd.4_Silent_p.I373I	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	373	Interaction with DAXX.|Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTAAACCAAGGATGATCTCAG	0.448000														17			24		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90144983	90144983	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:90144983C>T	uc002boe.3	+	11	2343	c.2343C>T	c.(2341-2343)atC>atT	p.I781I	C15orf42_uc021sug.1_Silent_p.I780I	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	781					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTGACTCTATCCCAAAGACAC	0.438000														82			38		0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331160	85331160	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:85331160C>T	uc001dkl.2	-	0	683	c.644G>A	c.(643-645)aGg>aAg	p.R215K	LPAR3_uc009wcj.1_Missense_Mutation_p.R215K	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	215					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GTTGGTTTTCCTCTTGACGTA	0.498000														23			46		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52580390	52580390	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:52580390C>T	uc001jjj.3	-	7	977	c.789G>A	c.(787-789)aaG>aaA	p.K263K	A1CF_uc010qho.2_Silent_p.K271K|A1CF_uc010qhn.2_Silent_p.K271K|A1CF_uc009xov.3_Silent_p.K263K|A1CF_uc001jji.3_Silent_p.K263K|A1CF_uc001jjh.3_Silent_p.K271K	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	263	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCGAATTTTCTTCACCCTCT	0.383000														8			23		0	0	1	0	0
EMBP1	647121	broad.mit.edu	37	1	121298449	121298449	+	RNA	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:121298449A>T	uc001eiu.1	+	1		c.490A>T								Homo sapiens embigin pseudogene 1 (EMBP1), non-coding RNA.																		CTTGAGAATAATTATCTTGTC	0.368000														48			13		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541968	70541968	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:70541968G>A	uc001dep.3	+	21	4355	c.4325G>A	c.(4324-4326)gGa>gAa	p.G1442E	LRRC7_uc009wbg.3_Missense_Mutation_p.G726E|LRRC7_uc001deq.3_Missense_Mutation_p.G636E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1442						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTATGGATGGATATCCAGAG	0.463000														76			17		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516693	140516693	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140516693C>T	uc003liq.3	+	0	1894	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	559	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTATC	0.716000														94			49		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533877	179533877	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:179533877G>A	uc001gmq.4	-	1	411	c.326C>T	c.(325-327)tCc>tTc	p.S109F	NPHS2_uc009wxi.3_Missense_Mutation_p.S109F	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	109					excretion	integral to plasma membrane	protein binding	p.S109F(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGAGCAGGGAAATGAGGAC	0.413000														8			54		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6037023	6037023	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:6037023G>A	uc003spl.3	-	6	824	c.737C>T	c.(736-738)cCc>cTc	p.P246L	PMS2_uc003spj.3_Missense_Mutation_p.P140L|PMS2_uc003spk.3_Missense_Mutation_p.P111L|PMS2_uc011jwl.2_Missense_Mutation_p.P111L|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.P246L|PMS2_uc010ktf.2_Missense_Mutation_p.P246L	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	246					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTCACTAGGGGGCAGCTGAAC	0.378000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					20			4		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49012224	49012224	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:49012224C>T	uc002pjk.3	-	5	528	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCCCAGGATCACCTGGTCAA	0.667000														40			19		0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52842734	52842734	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:52842734G>A	uc001sak.3	-	5	1143	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	365	Coil 2.|Rod.		I -> V (in dbSNP:rs437014).		ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGCCTGCTGTGATCTGCAGCT	0.537000														37			38		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171520516	171520516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:171520516G>A	uc003mbo.1	-	8	1754	c.1454C>T	c.(1453-1455)tCg>tTg	p.S485L		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	485							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGCAGTCCGAGTCCCTCTT	0.607000														100			55		0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72549866	72549866	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:72549866C>T	uc009ytl.3	-	19	2414	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	FCHSD2_uc010rrg.2_Silent_p.K595K|FCHSD2_uc001oth.4_Silent_p.K675K|ATG16L2_uc009ytj.2_Intron	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	731							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CATCTTCAATCTTCTCTGCTG	0.498000														10			3		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158655074	158655074	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:158655074C>T	uc001fst.1	-	1	287	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	30					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCAACACTTCCTGACGCCTC	0.473000														45			82		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301690	117301690	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:117301690C>T	uc001prh.1	-	31	5616	c.5614G>A	c.(5614-5616)Gcc>Acc	p.A1872T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1812					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TAGGCCCGGGCCAGCTCCTCG	0.572000														109			61		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119923749	119923749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:119923749G>A	uc001ehr.1	+	1	173	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	HAO2_uc001ehq.1_Missense_Mutation_p.R14Q	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	14	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R14L(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCCCATGCGCGAGAGCAGCTG	0.468000														44			135		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2721172	2721172	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:2721172A>T	uc009zdu.1	+	29	4194	c.3881A>T	c.(3880-3882)aAa>aTa	p.K1294I	CACNA1C_uc001qkc.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qke.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1274I|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1274I|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1294I|CACNA1C_uc001qkj.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkk.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkm.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qko.2_Missense_Mutation_p.K1294I|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qku.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qks.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1274I|CACNA1C_uc009zdv.1_Missense_Mutation_p.K1271I|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1274I|CACNA1C_uc001qka.1_Missense_Mutation_p.K809I|CACNA1C_uc001qki.1_Missense_Mutation_p.K1010I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1294					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTGCCTTCAAACCCAAGGTA	0.532000														29			9		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978058	107978058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:107978058C>T	uc004eoc.2	-	0	1550	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	506						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCATTTGAGCCCTGGCCACC	0.592000														53			33		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95497757	95497757	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:95497757C>T	uc010fhp.3	-	6		c.791G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CTCACCTTCTCCTTGTCCATT	0.473000														124			72		0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	889719	889719	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:889719G>A	uc003jbq.3	-	3	611	c.444C>T	c.(442-444)ttC>ttT	p.F148F	BRD9_uc003jbl.3_Silent_p.F32F|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.S97F|BRD9_uc003jbo.3_Silent_p.F32F|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	148							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCTGGCGGAGGAAGTGTTCCA	0.478000														55			27		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105260930	105260930	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:105260930C>T	uc003yls.3	+	25	3772	c.3531_splice	c.e25-1	p.N1177_splice	RIMS2_uc003ylp.3_Splice_Site_p.N1159_splice|RIMS2_uc003ylw.2_Splice_Site_p.N1166_splice|RIMS2_uc003ylq.3_Splice_Site_p.N973_splice|RIMS2_uc003ylr.3_Splice_Site_p.N998_splice	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1221					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGCTTTCAGTCTGATTTTCCC	0.463000										HNSCC(12;0.0054)				23			16		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526827	84526827	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:84526827T>C	uc004eeq.3	+	9	3303	c.2417T>C	c.(2416-2418)cTt>cCt	p.L806P	ZNF711_uc004eep.3_Missense_Mutation_p.L760P|ZNF711_uc004eeo.3_Missense_Mutation_p.L760P|ZNF711_uc011mqy.1_Missense_Mutation_p.L359P	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	760					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAAGAGGCTCTTATGTAATAA	0.378000														11			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438775	179438775	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179438775C>T	uc021vsy.1	-	274	64605	c.64380G>A	c.(64378-64380)aaG>aaA	p.K21460K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K15155K|TTN_uc021vta.1_Silent_p.K15088K|TTN_uc021vtb.1_Silent_p.K14963K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22387	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCTTTATCTTTGGTGCCT	0.463000														44			14		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142226067	142226067	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:142226067G>A	uc003ywd.1	-	5	1887	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	SLC45A4_uc003ywc.1_Silent_p.L527L|SLC45A4_uc010meq.1_Silent_p.L525L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	578					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTGTAACAGGGCTGCAGAG	0.642000														21			4		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87035667	87035667	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:87035667C>T	uc003uiv.1	-	25	3520	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	ABCB4_uc003uiw.1_Silent_p.Q1141Q|ABCB4_uc003uix.1_Silent_p.Q1094Q	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1148	ABC transporter 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAATTTCATCCTGTGATACAA	0.463000														81			37		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49654791	49654791	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:49654791G>T	uc002pmv.3	-	4	2233	c.2046C>A	c.(2044-2046)ttC>ttA	p.F682L		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	682					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGGACGAGGAGAAATAGTCAA	0.483000														19			9		0.00010058	0.000100941	1	1	0
OPCML	4978	broad.mit.edu	37	11	132812839	132812839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:132812839C>T	uc010sck.2	-	0	199	c.149G>A	c.(148-150)gGg>gAg	p.G50E	OPCML_uc001qgu.3_Missense_Mutation_p.G43E|OPCML_uc001qgs.3_Missense_Mutation_p.G50E|OPCML_uc001qgt.3_Missense_Mutation_p.G50E|OPCML_uc010scl.2_Missense_Mutation_p.G9E	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	50	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGCGCTCTCCCCCTGCCGGAC	0.672000														71			33		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36259166	36259166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:36259166C>T	uc010jwf.2	+	1	275	c.275C>T	c.(274-276)cCg>cTg	p.P92L	PNPLA1_uc010jwe.1_5'UTR|PNPLA1_uc003olw.1_5'UTR	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	92	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCCTTGTCCCCGTCCTGTAAG	0.577000														38			49		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996169	2996169	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:2996169C>T	uc010vrb.2	-	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	41					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.V40E(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GAGCACATTTCCCACCACCGT	0.547000														27			47		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117471	117471	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrGL000205.1:117471G>A	uc002kgk.4	+	0		c.849G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TCAAGGCCCTGAGAGTGATCG	0.572000														39			10		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175372560	175372560	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:175372560G>A	uc001gkp.1	-	1	773	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TNR_uc009wwu.1_Missense_Mutation_p.S231F|TNR_uc010pmz.1_Missense_Mutation_p.S231F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	231	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.C230Y(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCGGAGTTCGGAACAGTCATC	0.637000														52			110		0	0	1	0	0
SPICE1	152185	broad.mit.edu	37	3	113172416	113172416	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:113172416G>A	uc003eag.4	-	13	2330	c.2039C>T	c.(2038-2040)tCa>tTa	p.S680L	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.S576L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	680					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CTTGATAGCTGAATTCTGCAA	0.428000														65			28		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170961317	170961317	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:170961317G>A	uc010plz.2	+	11	1195	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q	C1orf129_uc001ghg.3_Silent_p.Q347Q|C1orf129_uc009wvy.3_Silent_p.Q154Q	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	347							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTGATACAGATGTGGAAGG	0.478000														9			25		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145286	27145286	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:27145286G>A	uc003xfl.1	-	5	1345	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	421	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGATGGCCAGGACCAGGGGCG	0.672000														18			15		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930778	54930778	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:54930778A>T	uc003dhf.3	+	25	2297	c.2249A>T	c.(2248-2250)gAc>gTc	p.D750V	CACNA2D3_uc003dhg.1_Missense_Mutation_p.D656V|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	750						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACTTCAAGGGACTTCCTGAAA	0.507000														62			38		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35634798	35634798	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:35634798G>A	uc002hnm.3	-	5	791	c.600C>T	c.(598-600)atC>atT	p.I200I	ACACA_uc002hnk.3_Silent_p.I122I|ACACA_uc002hnl.3_Silent_p.I142I|ACACA_uc002hnn.3_Silent_p.I200I|ACACA_uc002hno.3_Silent_p.I237I|ACACA_uc010cuz.3_Silent_p.I200I|ACACA_uc002hnq.2_Silent_p.I122I	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	200	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTGTACTGGGATCCTTTTAG	0.368000														24			14		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72084027	72084027	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:72084027G>A	uc001osj.3	-	4	728	c.678C>T	c.(676-678)atC>atT	p.I226I	CLPB_uc010rqx.2_Silent_p.I181I|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Intron|CLPB_uc010rqz.2_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	226					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ACTGGTTTGTGATGTGCCGGC	0.597000														44			39		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833351	24833351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:24833351C>T	uc001iru.4	+	18	5555	c.5152C>T	c.(5152-5154)Ccg>Tcg	p.P1718S	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.P1401S|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.P554S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1718					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTTGCTAGTTCCGGATGAAGG	0.512000														11			23		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38935283	38935283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:38935283G>A	uc002oit.3	+	6	727	c.597G>A	c.(595-597)tgG>tgA	p.W199*	RYR1_uc002oiu.3_Nonsense_Mutation_p.W199*	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	199	MIR 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGACACTATGGAACATGAACC	0.597000														9			11		0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41983993	41983993	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:41983993C>T	uc003gwk.2	+	0	281	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	62										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GGTCCAAATTCGGAGCTTGGA	0.532000														55			16		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981132	121981132	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:121981132C>T	uc003eew.4	+	3	1688	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F	CASR_uc003eev.4_Missense_Mutation_p.S417F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	417					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTACGGATATCCTACAATGTG	0.493000														43			31		0	0	1	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36767801	36767801	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:36767801C>A	uc010tei.2	-	8	933	c.618G>T	c.(616-618)atG>atT	p.M206I	CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.M129I	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	206					regulation of transcription, DNA-dependent	nucleus											CCACATTACTCATTTTTTCCA	0.308000														53			19		3.8784e-16	3.92222e-16	1	1	0
ABCF1	23	broad.mit.edu	37	6	30557645	30557645	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:30557645G>A	uc003nql.3	+	21	2222	c.2127G>A	c.(2125-2127)gaG>gaA	p.E709E	ABCF1_uc003nqm.3_Silent_p.E671E	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	709	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CGCCCACTGAGTACCTGCAGC	0.597000														89			110		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626276	12626276	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:12626276G>A	uc002gno.2	+	4	665	c.366G>A	c.(364-366)gtG>gtA	p.V122V	MYOCD_uc002gnn.2_Silent_p.V122V|MYOCD_uc002gnp.1_Silent_p.V26V	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	122					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGGAGCTGGTGGAAAAAAACA	0.468000														32			60		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105197109	105197109	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:105197109G>A	uc004emd.3	+	27	4897	c.4594G>A	c.(4594-4596)Gag>Aag	p.E1532K	NRK_uc011msi.2_Missense_Mutation_p.E114K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1533	CNH.						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						TCTGGAAAGTGAGCTGAAGCG	0.468000										HNSCC(51;0.14)				0			7		0	0	1	0	0
UBE2R2	54926	broad.mit.edu	37	9	33886894	33886894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:33886894C>T	uc003ztm.3	+	1	767	c.193C>T	c.(193-195)Cct>Tct	p.P65S		NM_017811	NP_060281	Q712K3	UB2R2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2R 2 (UBE2R2), mRNA.	65					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		TATTAAATTTCCTATTGACTA	0.363000														7			13		0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134274298	134274298	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:134274298G>A	uc003yuh.2	-	4	904	c.318C>T	c.(316-318)ttC>ttT	p.F106F	NDRG1_uc003yug.2_Silent_p.F106F|NDRG1_uc010mee.2_Silent_p.F25F|NDRG1_uc010mef.2_Silent_p.F40F|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	106					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ACCCTGCGGGGAAGGAGGCTG	0.582000			T	ERG	prostate									66			38		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072452	240072452	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:240072452G>A	uc021plc.1	+	0	1701	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K	CHRM3_uc001hyp.3_Silent_p.K567K	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	567					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACAAAAAAAAGAGGCGCAAGC	0.493000														54			29		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211471650	211471650	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:211471650C>T	uc010fur.3	+	18	2277	c.2195C>T	c.(2194-2196)gCc>gTc	p.A732V	CPS1_uc002vee.4_Missense_Mutation_p.A726V|CPS1_uc010fus.3_Missense_Mutation_p.A275V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	726	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.G731C(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCTGCTCTGGCCTCAAAAGCC	0.433000														31			17		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918442	51918442	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:51918442G>A	uc002pwo.3	-	6	1545	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	SIGLEC10_uc002pwp.3_Silent_p.S383S|SIGLEC10_uc021uyl.1_Silent_p.S358S|SIGLEC10_uc002pwq.3_Silent_p.S383S|SIGLEC10_uc010ycz.2_Silent_p.S393S|SIGLEC10_uc002pws.2_Silent_p.S293S|SIGLEC10_uc002pwr.3_Silent_p.S441S|SIGLEC10_uc010ycy.2_Silent_p.S351S|SIGLEC10_uc010eow.3_Silent_p.S253S|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	441	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CACAGTGCACGGAGAGGCTGA	0.662000														51			20		0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40456825	40456825	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:40456825C>T	uc004det.3	+	4	545	c.443C>T	c.(442-444)tCa>tTa	p.S148L	ATP6AP2_uc010nhc.3_Non-coding_Transcript|ATP6AP2_uc011mkl.2_Missense_Mutation_p.S72L|ATP6AP2_uc011mkm.2_Missense_Mutation_p.S116L|ATP6AP2_uc011mkn.2_Intron|ATP6AP2_uc004deu.1_Missense_Mutation_p.S13L	NM_005765	NP_005756	O75787	RENR_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 2 (ATP6AP2), mRNA.	148					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						GAAGACCTTTCAGTCACCTTG	0.408000														18			41		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121358855	121358855	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:121358855G>A	uc001pxx.3	+	3	772	c.643G>A	c.(643-645)Gcc>Acc	p.A215T		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	215					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACACAGTAAGGCCTCCAACCT	0.522000														97			69		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294689	5294689	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:5294689G>A	uc010zqw.2	-	0	335	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PROKR2_uc010zqx.2_Silent_p.F109F|PROKR2_uc010zqy.2_Silent_p.F109F|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	109						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.F109L(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AGTCCATCTCGAAGGGGCAGC	0.592000										HNSCC(71;0.22)				39			39		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97137536	97137536	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:97137536G>A	uc021rcc.1	+	20	2758	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	894										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGAAGGAAATGAATTTATTTC	0.343000														8			7		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966269	41966269	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:41966269G>A	uc010skn.2	+	9	1696	c.1688G>A	c.(1687-1689)cGa>cAa	p.R563Q	PDZRN4_uc001rmq.4_Missense_Mutation_p.R305Q|PDZRN4_uc009zjz.3_Missense_Mutation_p.R303Q|PDZRN4_uc001rmr.3_Missense_Mutation_p.R190Q	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	563							ubiquitin-protein ligase activity|zinc ion binding	p.E562D(2)|p.R305Q(1)|p.R563Q(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAAGCTTGCGAAATGATGAG	0.493000														33			14		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802568	185802568	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:185802568A>G	uc002uph.3	+	3	3039	c.2445A>G	c.(2443-2445)aaA>aaG	p.K815K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	815						intracellular	zinc ion binding	p.R814*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGAGGCGAAAAAGAGGCAGAT	0.388000														28			32		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99454460	99454460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:99454460G>A	uc003ury.1	+	8	906	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	CYP3A43_uc003urx.1_Missense_Mutation_p.R268Q|CYP3A43_uc003urz.1_Missense_Mutation_p.R268Q|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.R158Q|CYP3A43_uc003usb.1_Missense_Mutation_p.R128Q	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	268			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TTCCAGCATCGAGTAGATTTC	0.433000														53			30		0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538735	63538735	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:63538735C>T	uc011kdm.2	+	3	1487	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						TTAAGTGGTTCCCAGACCTGA	0.393000														9			4		0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55282732	55282732	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:55282732G>A	uc001cyb.4	+	8	1175	c.1121G>A	c.(1120-1122)cGa>cAa	p.R374Q	C1orf177_uc001cya.4_Missense_Mutation_p.R374Q	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	374								p.R374R(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CAGCGATATCGATCCCTATTC	0.592000														43			11		0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197708730	197708730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:197708730G>A	uc002utw.3	-	24	2521	c.2407C>T	c.(2407-2409)Cgt>Tgt	p.R803C	PGAP1_uc002utx.3_Missense_Mutation_p.R629C|PGAP1_uc010fsi.3_Missense_Mutation_p.R77C	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	803					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCAGATAAACGAAGATGGTGT	0.353000														16			8		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23603672	23603672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:23603672C>T	uc002zww.3	+	3	2293	c.1697C>T	c.(1696-1698)cCc>cTc	p.P566L	BCR_uc002zwx.3_Missense_Mutation_p.P566L|BCR_uc011aiy.2_Missense_Mutation_p.P155L|BCR_uc010gtx.1_Missense_Mutation_p.P69L|FBXW4P1_uc010gty.3_5'Flank	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	566	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GGGCTCTTCCCCCGCGTGCAG	0.602000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									58			41		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6913769	6913769	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:6913769G>A	uc002mfw.3	+	10	1266	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	EMR1_uc010dvc.3_Missense_Mutation_p.E410K|EMR1_uc010dvb.3_Missense_Mutation_p.E358K|EMR1_uc010xji.2_Missense_Mutation_p.E269K|EMR1_uc010xjj.2_Missense_Mutation_p.E233K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	410	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGAGAGTGTGGAAAGCATGAC	0.483000														82			51		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393542	145393542	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:145393542C>T	uc003lnt.3	+	4	1215	c.977C>T	c.(976-978)cCa>cTa	p.P326L	SH3RF2_uc011dbl.1_Missense_Mutation_p.P326L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	326							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGCACCCCAGTGCTCATC	0.557000														96			38		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70319045	70319045	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:70319045C>T	uc001oqc.3	-	21	5393	c.5281G>A	c.(5281-5283)Gat>Aat	p.D1761N	SHANK2_uc010rqn.2_Missense_Mutation_p.D1237N|SHANK2_uc001opz.3_Missense_Mutation_p.D1232N|BC127192_uc009ysn.1_5'UTR|SHANK2_uc001opy.3_Missense_Mutation_p.D163N|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1448					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCCCAAGATCGATGAGGTCC	0.502000														115			96		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17087458	17087458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:17087458C>T	uc010ock.2	-	1	207	c.207G>A	c.(205-207)atG>atA	p.M69I	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					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						ACCAGCAGTCCATTAAGGGCC	0.627000														161			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735534	140735534	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140735534C>T	uc003ljq.2	+	0	767	c.767C>T	c.(766-768)cCt>cTt	p.P256L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.P256L	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	256	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAACGTTCCTGTAGGCACT	0.478000														15			9		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10622562	10622562	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:10622562C>T	uc010rcc.1	-	14	2306	c.1920G>A	c.(1918-1920)gtG>gtA	p.V640V	MRVI1_uc010rcb.1_Silent_p.V632V|MRVI1_uc001miw.2_Silent_p.V631V|MRVI1_uc001mix.3_Silent_p.V325V|MRVI1_uc001miz.2_Silent_p.V549V|MRVI1_uc010rcd.1_Silent_p.V434V|MRVI1_uc009ygd.1_Silent_p.V325V|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	613					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		p.R640C(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTAGATTCTCCACATACTGCA	0.517000														162			71		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62340067	62340067	+	Missense_Mutation	SNP	G	A	A	rs11549641		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:62340067G>A	uc001ntm.1	-	1	306	c.160C>T	c.(160-162)Cct>Tct	p.P54S	EEF1G_uc010rlw.1_Missense_Mutation_p.P104S	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	54	GST N-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGCCGGCAGGAAATTTGCGG	0.582000														84			50		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45808505	45808505	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:45808505C>T	uc002xsm.3	+	12	1632	c.1258C>T	c.(1258-1260)Ctc>Ttc	p.L420F	EYA2_uc010ghp.3_Intron|EYA2_uc002xsq.3_Missense_Mutation_p.L390F	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	420					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTGGAAGCTCTCACAGACCT	0.517000														34			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179515513	179515513	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179515513G>A	uc021vsy.1	-	162	32597	c.32372C>T	c.(32371-32373)cCt>cTt	p.P10791L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11718	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGGAACAGGAACAGCTGG	0.403000														9			3		0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66108723	66108723	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:66108723G>A	uc001oho.1	-	3	459	c.312C>T	c.(310-312)ccC>ccT	p.P104P	BRMS1_uc001ohp.1_Silent_p.P104P|BRMS1_uc009yre.3_5'Flank	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	104					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GCCCCCCAAGGGGCTCCGTGT	0.617000														43			25		0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	10	120877127	120877127	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:120877127C>T	uc001ldw.3	+	3	473	c.429C>T	c.(427-429)ttC>ttT	p.F143F	FAM45A_uc010qsv.2_Silent_p.F135F|FAM45A_uc010qsw.2_Intron|FAM45A_uc010qsx.2_Non-coding_Transcript|FAM45A_uc010qsy.2_Silent_p.F70F	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	143										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACGGCTCTTTCCTTAGTAAGG	0.473000														52			4		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7469805	7469805	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:7469805G>A	uc001qsx.1	+	3	693	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	231					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TCACCAGTGGGACCACAGGCT	0.498000														6			9		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570043	136570043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:136570043C>T	uc002tuu.1	-	6	2202	c.2191G>A	c.(2191-2193)Ggg>Agg	p.G731R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	731	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G731E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCTTATCCCCCAGGGCACC	0.512000														58			33		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483131	12483131	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:12483131G>A	uc001rai.1	-	3	1384	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	MANSC1_uc010shm.1_Nonsense_Mutation_p.Q310*|MANSC1_uc001raj.1_Nonsense_Mutation_p.Q342*	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	376						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGGCCGTACTGATTTTCTGGA	0.507000														40			15		0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138556626	138556626	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:138556626G>A	uc004cgk.1	+	2	292	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	98						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAAGAATGGGGAATACTCCAT	0.597000														1			2		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466495	179466495	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179466495G>A	uc021vsy.1	-	234	47843	c.47618C>T	c.(47617-47619)tCc>tTc	p.S15873F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S9568F|TTN_uc021vta.1_Missense_Mutation_p.S9501F|TTN_uc021vtb.1_Missense_Mutation_p.S9376F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16800	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTACTGAGGAGTTTTCAGC	0.343000														43			25		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736209	16736209	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:16736209G>A	uc001ayn.3	-	5	957	c.474C>T	c.(472-474)gtC>gtT	p.V158V	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.V135V	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	158	Pro-rich.						calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGGAGGTGGGGACCGGGGCTC	0.692000														23			5		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170693	16170694	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:16170693_16170694CC>TT	uc004cxj.3	+	2	1733_1734	c.1080_1081CC>TT	c.(1078-1083)tccctc>tcTTtc	p.L361F		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	361					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCATGACCTCCCTCAAGAGTAC	0.525000														26			62		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389307	128389307	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:128389307A>T	uc002top.3	+	36	5203	c.5150A>T	c.(5149-5151)cAg>cTg	p.Q1717L	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1717	MyTH4 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATCCTGAAGCAGCTGACGCAC	0.687000														22			9		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101795426	101795426	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:101795426G>A	uc003knn.3	-	4	1127	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.L319F|SLCO6A1_uc003knq.3_Missense_Mutation_p.L257F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	319						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)		GCGGCAAAAAGAAAATTAATC	0.333000														21			20		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42229622	42229622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:42229622C>T	uc003cky.3	+	4	782	c.566C>T	c.(565-567)tCc>tTc	p.S189F	TRAK1_uc011azh.2_Missense_Mutation_p.S189F|TRAK1_uc011azi.2_Missense_Mutation_p.S189F|TRAK1_uc003ckz.4_Missense_Mutation_p.S115F|TRAK1_uc011azj.2_Missense_Mutation_p.S115F|TRAK1_uc003cla.3_Missense_Mutation_p.S131F	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	189	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GAGCCCGAGTCCGTTTGCTCA	0.582000														63			60		0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037042	48037042	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:48037042G>A	uc003gxw.3	+	4	672	c.606G>A	c.(604-606)atG>atA	p.M202I		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	202						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						AAATGGAAATGAAATTGAGAG	0.383000														26			43		0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	687963	687964	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:687963_687964GG>AA	uc001lqq.1	-	3	1304_1305	c.611_612CC>TT	c.(610-612)ccc>cTT	p.P204L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.P204L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	204	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGCACCGTACGGGCAGCTCACT	0.554000														24			22		0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44540638	44540638	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:44540638C>T	uc011azx.2	-	3	1792	c.1631G>A	c.(1630-1632)tGa>tAa	p.*544*	ZNF445_uc011azw.1_Intron			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CAGCTTAACTCAAAGGTCTTT	0.458000														8			3		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702397	27702397	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:27702397G>A	uc001itu.2	-	0	901	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	261					spermatid development	integral to membrane	hedgehog receptor activity	p.L261I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGGCACGCAGAGCGCCCTGT	0.637000														16			8		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185229381	185229381	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:185229381G>A	uc003fpm.3	-	8	1309	c.1199C>T	c.(1198-1200)tCt>tTt	p.S400F	LIPH_uc010hyh.3_Missense_Mutation_p.S366F	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	400					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCCTATTAGAGATCCTGTAGA	0.453000														55			36		0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7725292	7725292	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:7725292G>A	uc010rbf.2	-	2	243	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GTGGTGAGACGATGCTTCCTC	0.473000														5			8		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8609287	8609287	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:8609287C>T	uc002mkg.3	-	13	1556	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	473	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCTGCTCCCCCGCCCGTGGC	0.667000														30			28		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032917	16032917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:16032917C>T	uc002nbu.2	-	8	1081	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	CYP4F11_uc010eab.1_Missense_Mutation_p.E349K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E349K	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	349					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.E349K(2)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCCTGGTATTCTGGGTGCTTT	0.542000														37			30		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465894	24465894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:24465894C>T	uc010tcw.2	-	2	556	c.536G>A	c.(535-537)gGa>gAa	p.G179E	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Missense_Mutation_p.P50S|C1QTNF9B-AS1_uc009zzx.3_Missense_Mutation_p.P59S|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.G179E	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	179	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GCCTCTTATTCCCCGGACTCC	0.592000														64			17		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320961	152320961	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:152320961C>T	uc002txm.3	+	29	5088	c.4927C>T	c.(4927-4929)Cct>Tct	p.P1643S	RIF1_uc002txn.3_Missense_Mutation_p.P1643S|RIF1_uc002txl.3_Missense_Mutation_p.P1643S|RIF1_uc002txo.3_Missense_Mutation_p.P1643S|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1643					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GTTGCAAGTTCCTGATGATTT	0.338000														20			8		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94067104	94067104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:94067104C>T	uc001ybv.1	+	21	3114	c.3031C>T	c.(3031-3033)Cct>Tct	p.P1011S	UNC79_uc001ybs.1_Missense_Mutation_p.P1011S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1188						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAGGAATTTCCTTTTCCTAC	0.403000														7			21		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177379	153177379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:153177379C>T	uc001fbl.3	+	1	306	c.196C>T	c.(196-198)Cct>Tct	p.P66S	LELP1_uc021ozv.1_Missense_Mutation_p.P66S	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	66	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCGCAGTCTCCTTCATCCTG	0.607000														35			74		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110516651	110516651	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:110516651C>T	uc003yne.3	+	67	11028	c.10924C>T	c.(10924-10926)Cat>Tat	p.H3642Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3642					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q3642H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCATCCAATCCATGTGAAGAA	0.289000										HNSCC(38;0.096)				6			9		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043044	102043044	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:102043044G>A	uc001tii.3	+	12	1268	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	MYBPC1_uc001tif.2_Silent_p.K389K|MYBPC1_uc001tig.3_Silent_p.K401K|MYBPC1_uc010svr.2_Silent_p.K376K|MYBPC1_uc010svs.2_Silent_p.K376K|MYBPC1_uc001tij.3_Silent_p.K376K|MYBPC1_uc010svt.2_Silent_p.K364K|MYBPC1_uc010svu.2_Silent_p.K357K|MYBPC1_uc001tik.3_Silent_p.K350K|MYBPC1_uc001tih.3_Silent_p.K401K|MYBPC1_uc010svq.2_Silent_p.K363K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	376	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.K376N(1)|p.K401N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCAGGTTTAAGAATGGTGAAG	0.343000														26			5		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9215151	9215151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:9215151G>A	uc001mhl.3	-	4	1284	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	DENND5A_uc010rbw.2_Missense_Mutation_p.P343S|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	343	DENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGAGAATAGGGACATAGACA	0.478000														52			38		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70476323	70476323	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:70476323G>A	uc003xyg.2	+	3	674	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	SULF1_uc010lza.1_Missense_Mutation_p.R38Q|SULF1_uc003xyd.2_Missense_Mutation_p.R38Q|SULF1_uc003xye.2_Missense_Mutation_p.R38Q|SULF1_uc003xyf.2_Missense_Mutation_p.R38Q	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	38					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGCAGGAACGAAAAAACATC	0.493000														47			28		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24167676	24167676	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:24167676G>A	uc003xdy.3	+	4	311	c.228_splice	c.e4-1	p.K76_splice	ADAM28_uc003xdx.3_Splice_Site_p.K76_splice|ADAM28_uc011kzz.2_Splice_Site|ADAM28_uc011laa.2_Splice_Site	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	76					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTTTCTCCAGGAACCTCCTTG	0.413000														21			10		0	0	1	0	0
SOCS1	8651	broad.mit.edu	37	16	11348858	11348859	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:11348858_11348859GG>AA	uc021tcz.1	-	0	477_478	c.477_478CC>TT	c.(475-480)cgccgc>cgTTgc	p.R160C	RMI2_uc002daq.1_Intron|SOCS1_uc002dar.1_Missense_Mutation_p.R160C	NM_003745	NP_003736	O15524	SOCS1_HUMAN	Homo sapiens suppressor of cytokine signaling 1 (SOCS1), mRNA.	160	SH2.				JAK-STAT cascade|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.P158_M161del(2)|p.F144fs*34(1)|p.Y64fs*1(1)|p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CCCAGCATGCGGCGCGGCGCCG	0.733000			"""F, O"""		"""Hodgkin Lymphoma, PMBL"""									16			5		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62813844	62813844	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:62813844C>T	uc010ihh.3	+	13	2624	c.2451C>T	c.(2449-2451)aaC>aaT	p.N817N	LPHN3_uc003hcq.4_Silent_p.N817N|LPHN3_uc003hct.3_Silent_p.N210N	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	804	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCAACCCTAACTGTTCATTTT	0.378000														14			10		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43219782	43219782	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:43219782C>T	uc002lbe.3	+	6	1731	c.915C>T	c.(913-915)ttC>ttT	p.F305F	SLC14A2_uc002lbb.3_Silent_p.F305F|SLC14A2_uc010dnj.3_Silent_p.F305F	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	305						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCGGCGTGTTCCTGGTGGCTC	0.557000														57			42		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	33013856	33013856	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:33013856C>T	uc002edk.1	+	0		c.60C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GTGAAGGTCTCCTGCCAGGCT	0.567000														67			26		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111482604	111482604	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:111482604G>A	uc003iab.4	+	19	3106	c.2764G>A	c.(2764-2766)Gaa>Aaa	p.E922K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	922					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TGGAGCAGGAGAAAAACCTAG	0.358000														13			23		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065776	35065776	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:35065776G>A	uc003jjm.3	-	9	1843	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.S327S|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	428					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.R427K(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTGGTAAGAGGATCTGGGGT	0.493000														146			43		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82432220	82432220	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:82432220C>T	uc001dit.4	+	11	2406	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S742L|LPHN2_uc001div.3_Missense_Mutation_p.S742L|LPHN2_uc009wcd.3_Missense_Mutation_p.S742L|LPHN2_uc001diw.3_Missense_Mutation_p.S326L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	755					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.S742L(2)|p.S755L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CACGTCATTTCAGTTTCAATC	0.403000														137			27		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103269903	103269903	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:103269903C>T	uc003ykr.2	-	57	8599	c.8144G>A	c.(8143-8145)tGg>tAg	p.W2715*	UBR5_uc003yks.2_Nonsense_Mutation_p.W2714*|UBR5_uc003ykq.3_Nonsense_Mutation_p.W226*	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2715	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TACTATTGACCAGAACCAACG	0.323000														9			9		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94931553	94931553	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:94931553G>A	uc003uns.3	-	7	970	c.873C>T	c.(871-873)atC>atT	p.I291I	PON1_uc011kih.2_Silent_p.I291I	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	291					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	CATAGAAGAAGATTTTCATGC	0.403000														27			17		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128806	83128806	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:83128806A>C	uc004eei.1	+	3	1111	c.1090A>C	c.(1090-1092)Aag>Cag	p.K364Q	CYLC1_uc004eeh.1_Missense_Mutation_p.K363Q	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	364					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						aaaggacacaaagaaGTACCC	0.348000														3			6		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396699	45396699	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:45396699G>A	uc003jok.3	-	3	1150	c.1125C>T	c.(1123-1125)acC>acT	p.T375T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	375						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCTCAGCATGGTAATCCAGA	0.522000														30			16		0	0	1	0	0
OR10AD1	121275	broad.mit.edu	37	12	48597048	48597048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:48597048C>T	uc001rrl.1	-	0	28	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AD, member 1 (OR10AD1), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGGATAAATTCCGTCACTATG	0.517000														41			5		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94066667	94066667	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:94066667G>A	uc003poe.3	-	4	1333	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	EPHA7_uc003pof.3_Silent_p.T364T|EPHA7_uc011eac.2_Silent_p.T364T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	364	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATATTCTGTAGGTCACATCGT	0.483000														51			12		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172775	5172775	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5172775G>A	uc010qyy.2	-	0	825	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	275					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAATATGGATATAAGGGG	0.433000														59			41		0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52282027	52282027	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:52282027G>A	uc001rzd.3	+	0	235	c.57G>A	c.(55-57)ctG>ctA	p.L19L	ANKRD33_uc001rzh.4_Silent_p.L19L|ANKRD33_uc001rzf.4_5'UTR|ANKRD33_uc001rze.3_5'UTR|ANKRD33_uc001rzg.4_5'UTR|ANKRD33_uc001rzi.4_5'UTR	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TAGTCCACCTGGAGGCATTCG	0.567000														54			55		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076952	41076952	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:41076952G>A	uc002xkg.3	-	8	1652	c.1468C>T	c.(1468-1470)Cta>Tta	p.L490L	PTPRT_uc010ggj.3_Silent_p.L490L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	490	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.P489S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGGATTCTAGAGGAACAGCT	0.498000														87			55		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28659859	28659859	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:28659859G>A	uc002kwl.4	-	10	2071	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	DSC2_uc002kwk.4_Silent_p.T539T	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	539	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CATTTTTGATGGTCTCTGCCT	0.383000														67			39		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84561288	84561288	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:84561288G>C	uc004eer.2	-	11	1362	c.1216C>G	c.(1216-1218)Ctc>Gtc	p.L406V	POF1B_uc004ees.3_Missense_Mutation_p.L406V	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	406							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CGAAGAGAGAGATTGTTTTCT	0.353000														14			43		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127789803	127789803	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:127789803C>T	uc001ljk.2	-	8	1171	c.758G>A	c.(757-759)aGa>aAa	p.R253K	ADAM12_uc010qul.1_Missense_Mutation_p.R204K|ADAM12_uc001ljm.3_Missense_Mutation_p.R253K|ADAM12_uc001ljn.3_Missense_Mutation_p.R250K|ADAM12_uc001ljl.4_Missense_Mutation_p.R250K	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	253	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTTCAGTGGTCTGTAAAACTG	0.428000														6			15		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41048463	41048463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:41048463C>T	uc003jmj.4	-	15	2137	c.1647G>A	c.(1645-1647)tgG>tgA	p.W549*	HEATR7B2_uc003jmi.4_Nonsense_Mutation_p.W104*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	549							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AACGTGTTTTCCATAGGTCTA	0.478000														63			28		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533279	47533279	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:47533279G>A	uc001cqu.1	+	0	120	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	39						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GGAGATGGATGATCAGAGCCC	0.522000														21			52		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531036	50531036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:50531036C>T	uc021pqb.1	+	0	446	c.446C>T	c.(445-447)tCt>tTt	p.S149F	C10orf71_uc021pqa.1_Missense_Mutation_p.S148F|C10orf71_uc021pqc.1_Missense_Mutation_p.S149F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	149										endometrium(1)	1						CTAATTAAATCTTTCGACAGG	0.537000														13			30		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687216	159687216	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:159687216C>T	uc010kjv.3	+	20	5585	c.5385C>T	c.(5383-5385)ttC>ttT	p.F1795F		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1795						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATCGAAAGTTCGTGGGAGTTG	0.473000														52			51		0	0	1	0	0
NUDT15	55270	broad.mit.edu	37	13	48612039	48612039	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:48612039G>A	uc001vbw.1	+	1	338	c.158_splice	c.e1+1	p.G53_splice	SUCLA2_uc010tgd.2_5'UTR|NUDT15_uc001vbv.3_Splice_Site_p.G53_splice	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 15 (NUDT15), mRNA.	53	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		TCTGGAGTTCGGGTGAGCAGC	0.647000											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			15		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537893	55537893	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:55537893C>T	uc003xsd.1	+	3	1599	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	484					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGACAGTTTTCATATAGTGAA	0.373000														26			24		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800043	21800043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:21800043C>T	uc002zur.4	+	2	1089	c.859C>T	c.(859-861)Cct>Tct	p.P287S	HIC2_uc002zus.4_Missense_Mutation_p.P287S	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	287					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGCCTCTGCTCCTCCCGTTGC	0.672000														65			43		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349307	189349307	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:189349307G>A	uc003fry.2	+	0	92	c.3G>A	c.(1-3)atG>atA	p.M1I	TP63_uc003frx.2_Missense_Mutation_p.M1I|TP63_uc003frz.2_Missense_Mutation_p.M1I|TP63_uc010hzc.1_Missense_Mutation_p.M1I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	1	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGAAGGAAATGAATTTTGAAA	0.373000										HNSCC(45;0.13)				87			24		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169362491	169362491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:169362491G>A	uc021xuh.1	-	8	1401	c.1291C>T	c.(1291-1293)Caa>Taa	p.Q431*	DDX60L_uc003irq.4_Nonsense_Mutation_p.Q431*|DDX60L_uc003irr.1_Nonsense_Mutation_p.Q431*|DDX60L_uc003irs.1_Nonsense_Mutation_p.Q158*	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	431							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTAGTACCTTGAATGACCGAT	0.333000														52			9		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	T	T	rs121912660		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:7577099C>T	uc002gim.2	-	7	1033	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(126)|p.R280K(96)|p.G279E(31)|p.R280I(30)|p.R280G(19)|p.R280S(15)|p.R280fs*65(8)|p.G279R(8)|p.R280*(8)|p.0?(8)|p.G279V(4)|p.R280_D281delRD(4)|p.G279G(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.G279_R280delGR(2)|p.R280fs*62(2)|p.G279W(2)|p.G279fs*59(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276fs*64(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.D281fs*24(1)|p.C275fs*20(1)|p.G279fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				5			19		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143765	56143765	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:56143765T>G	uc001nit.2	+	0	666	c.666T>G	c.(664-666)atT>atG	p.I222M		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGTTCATCATTTCTGCCATCC	0.488000														50			39		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53674976	53674976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:53674976G>A	uc002ehp.3	-	18	2991	c.2927C>T	c.(2926-2928)tCt>tTt	p.S976F	RPGRIP1L_uc002eho.4_Missense_Mutation_p.S976F|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.S976F|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.S976F|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.S976F	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	976					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCCACGAAAGATACCTTCTT	0.343000														18			7		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539859	56539859	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:56539859C>G	uc002qmj.3	+	6	2260	c.2260C>G	c.(2260-2262)Cct>Gct	p.P754A	NLRP5_uc002qmi.3_Missense_Mutation_p.P735A	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	754						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGGCATGTCCTGTGGTCCC	0.522000														79			52		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101577952	101577952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:101577952G>A	uc001thz.4	-	7	1402	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	338					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAAGTCCAGGAAGTCCTGGA	0.348000														9			20		0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33466921	33466921	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:33466921G>A	uc002hiy.1	-	2	355	c.327C>T	c.(325-327)tcC>tcT	p.S109S	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	109						nucleolus		p.S109F(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GACCCTCCAAGGAGCTGGTGC	0.577000														50			22		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74573043	74573043	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:74573043C>T	uc002axo.3	+	8	1318	c.924C>T	c.(922-924)ccC>ccT	p.P308P	CCDC33_uc002axp.3_Silent_p.P130P	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	511	C2.						protein binding	p.Q307Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCAACCAGCCCCTGGGCATCT	0.597000														76			29		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9525085	9525085	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:9525085C>T	uc002wnl.2	-	8	2345	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	PAK7_uc002wnk.2_Silent_p.R600R|PAK7_uc002wnj.2_Silent_p.R600R|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	600	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAATGATTTCCTCTTCGGCA	0.453000														55			46		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85097363	85097363	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:85097363A>G	uc010ysl.2	-	1	744	c.655T>C	c.(655-657)Ttg>Ctg	p.L219L	C2orf89_uc002sou.4_Silent_p.L219L|C2orf89_uc010fgc.2_Silent_p.L219L	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	219						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GAAAAGTTCAACCCATTCAAT	0.498000														127			57		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36223189	36223189	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:36223189C>T	uc021usv.1	+	27	5739	c.5739C>T	c.(5737-5739)tcC>tcT	p.S1913S	MLL2_uc021usu.1_Silent_p.S727S	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	525					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCAGACGTTCCCGTCGTCCCA	0.647000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				11			8		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123744131	123744131	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:123744131G>A	uc004bkv.3	-	26	3507	c.3477C>T	c.(3475-3477)tgC>tgT	p.C1159C		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1159					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CCACCAGGGGGCATATATCGA	0.413000														4			19		0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23345093	23345093	+	Missense_Mutation	SNP	C	T	T	rs140549788		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:23345093C>T	uc010gdb.3	+	2	247	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	GZF1_uc002wsy.3_Missense_Mutation_p.R25C|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.R25C	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	25					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCATGAGCTTCGCCTCCTGGG	0.522000														24			36		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45456607	45456607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:45456607C>T	uc002iln.3	+	13	2001	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	C17orf57_uc002ilm.3_Missense_Mutation_p.P428S|C17orf57_uc010daz.1_Missense_Mutation_p.P476S	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	524	EF-hand 2.						calcium ion binding	p.F523I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GCGAAGTTTTCCTGAATGCAA	0.368000														33			19		0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77809809	77809810	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:77809809_77809810CC>TT	uc001xto.1	-	4	471_472	c.471_472GG>AA	c.(469-474)atggct>atAAct	p.157_158MA>IT	TMED8_uc001xtn.1_Missense_Mutation_p.1_2MA>IT	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	157					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CATGGAGGAGCCATCAGAGGTG	0.525000														5			7		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049488	49049488	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:49049488C>T	uc003cvj.2	+	1	749	c.611C>T	c.(610-612)aCc>aTc	p.T204I	WDR6_uc011bbx.1_Missense_Mutation_p.T75I|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.T148I|WDR6_uc011bbz.1_Missense_Mutation_p.T123I	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	174					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AAGGAGCTGACCATAGTGGCA	0.562000														22			14		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123657311	123657311	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:123657311G>A	uc010nqy.3	-	16	3000	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	ODZ1_uc011muj.2_Missense_Mutation_p.S978F|ODZ1_uc004euj.3_Missense_Mutation_p.S979F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	979					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GATAAAGTTGGAGATATCGCA	0.493000														11			51		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38831833	38831833	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:38831833G>A	uc021yzh.1	+	44	6604	c.6495G>A	c.(6493-6495)acG>acA	p.T2165T	DNAH8_uc003ooe.2_Silent_p.T1948T	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTCTTAACGATGGTGAGAA	0.289000														12			20		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189322	53189322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:53189322C>T	uc001say.3	-	0	571	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	169	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCTGAATTCCCCCAGGAAAG	0.597000														12			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215824121	215824121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:215824121C>T	uc001hku.1	-	64	14543	c.14156G>A	c.(14155-14157)gGa>gAa	p.G4719E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4719	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGGGCTTTTCCTGCAGAATT	0.488000										HNSCC(13;0.011)				47			104		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498891	216498891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:216498891G>A	uc001hku.1	-	5	1286	c.899C>T	c.(898-900)tCa>tTa	p.S300L	USH2A_uc001hkv.3_Missense_Mutation_p.S300L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	300	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGGCAATGTGATTGGGCATG	0.502000										HNSCC(13;0.011)				25			52		0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13008525	13008525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:13008525C>T	uc002mvq.3	+	10	1168	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	GCDH_uc002mvp.3_Missense_Mutation_p.P364L|GCDH_uc010xmt.2_Missense_Mutation_p.P198L|GCDH_uc010xmu.2_Missense_Mutation_p.P320L	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	364					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AGGGCTGCCCCCGAGATGGTT	0.607000														179			83		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410947	5410947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5410947G>A	uc010qzc.2	+	0	341	c.319G>A	c.(319-321)Gga>Aga	p.G107R	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	107						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTACTTTGGAGCGTGTCA	0.512000														119			76		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98778824	98778824	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:98778824G>A	uc001kmw.2	-	26	3039	c.2787C>T	c.(2785-2787)tgC>tgT	p.C929C		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	929	EGF-like 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GACTGGACAAGCAGAGATCAC	0.647000														11			23		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378918	55378918	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:55378918G>A	uc003pcn.3	-	5	719	c.560C>T	c.(559-561)tCc>tTc	p.S187F	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.S157F|HMGCLL1_uc010jzx.3_Missense_Mutation_p.S58F|HMGCLL1_uc011dxc.2_Missense_Mutation_p.S125F|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Missense_Mutation_p.S125F	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	187							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.S187S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTTCAATGGAACAGTTAAT	0.368000														43			16		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732413	37732414	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:37732413_37732414GG>AA	uc003xkm.2	-	2	1297_1298	c.1241_1242CC>TT	c.(1240-1242)ccc>cTT	p.P414L	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.P414L|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.P262L	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	414					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGAGTTTGCGGGGGCCATGTT	0.559000														53			37		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	794309	794309	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:794309G>A	uc010krz.1	+	4	1128	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	HEATR2_uc003siz.2_Missense_Mutation_p.D238N	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	370							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGACATCACCGACTGGGTGGT	0.657000														105			62		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50148305	50148305	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:50148305C>T	uc002poq.3	+	1	146	c.22C>T	c.(22-24)Cga>Tga	p.R8*		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	8					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGATGAGTCTCGAGGGAAGAC	0.592000														11			5		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153160	101153160	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:101153160G>A	uc003yjd.3	-	1	2058	c.1322C>T	c.(1321-1323)cCa>cTa	p.P441L	FBXO43_uc003yje.3_Missense_Mutation_p.P407L|FBXO43_uc010mbp.2_Missense_Mutation_p.P441L	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	441					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTGCAAGGCTGGGGTCTTTGA	0.433000														79			45		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83360566	83360566	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:83360566C>T	uc003kio.1	-	7	1324	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	EDIL3_uc003kip.1_Missense_Mutation_p.R292Q|EDIL3_uc011ctt.1_Missense_Mutation_p.R79Q	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	302	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.R302Q(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCAATGTCTTCGACAAACTTG	0.383000														35			14		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23221074	23221074	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:23221074G>A	uc002dlm.1	+	6	1220	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	361					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCAGACAGAGTCCTTCAA	0.602000														56			30		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046489	73046489	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:73046489G>A	uc004ebn.2	+	0		c.34450G>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TCTCATCTTGGGATTTCCCCA	0.443000														21			77		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542877	61542877	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:61542877G>A	uc002ydr.2	-	2	400	c.88C>T	c.(88-90)Cga>Tga	p.R30*	DIDO1_uc002yds.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydt.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydu.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydv.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydw.2_Nonsense_Mutation_p.R30*|DIDO1_uc002ydx.2_Nonsense_Mutation_p.R30*|DIDO1_uc011aao.1_Nonsense_Mutation_p.R30*	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	30					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGTCCTTCGAAAACCCCAT	0.617000														19			3		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14536360	14536360	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:14536360C>T	uc021wtn.1	-	24	3249	c.3249G>A	c.(3247-3249)agG>agA	p.R1083R	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	987					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTGCAGGACCCTGTCGAAGG	0.602000														20			12		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16256880	16256880	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:16256880C>T	uc001axk.1	+	10	4349	c.4145C>T	c.(4144-4146)tCt>tTt	p.S1382F	SPEN_uc010obp.1_Missense_Mutation_p.S1341F	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1382					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTTCTGATTCTGACGAAGAT	0.433000														57			5		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48386958	48386958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:48386958C>T	uc002phr.2	-	1	361	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	74					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCAGGGTGATCGCTCCCAGAT	0.517000														15			12		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515161	233515161	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:233515161C>T	uc001hvt.4	+	8	2670	c.2409C>T	c.(2407-2409)tcC>tcT	p.S803S	KIAA1804_uc001hvu.4_Silent_p.S249S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	803					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCATCCTCTCCACACCTTCTT	0.607000														100			15		0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76924771	76924771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:76924771G>A	uc003hjh.1	-	3	397	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	120					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTTTTGACGAGAACGTTGA	0.348000														23			26		0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834189	178834189	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:178834189C>T	uc001gma.3	-	2	1199	c.723G>A	c.(721-723)agG>agA	p.R241R	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Silent_p.R241R|ANGPTL1_uc010pnc.1_Silent_p.R163R	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	241						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AACCTGGATCCCTCTGAATCT	0.493000														77			15		0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045592	142045592	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142045592G>A	uc003vxp.4	+	1	229	c.120G>A	c.(118-120)ttG>ttA	p.L40L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAAGTCTTTGAAATGTGAAC	0.453000														146			44		0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112269701	112269701	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:112269701G>A	uc001ebo.2	-	1	965	c.783C>T	c.(781-783)ccC>ccT	p.P261P	FAM212B_uc001ebp.2_Silent_p.P246P	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	Homo sapiens family with sequence similarity 212, member B (FAM212B), transcript variant 1, mRNA.	261										cervix(1)|endometrium(1)	2						TGCCTGGGAAGGGGAAATGTC	0.612000														190			30		0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937213	33937213	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:33937213A>G	uc003jic.2	+	0	723	c.368A>G	c.(367-369)aAc>aGc	p.N123S		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	123						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TTCGTCACCAACCTGGCGCTG	0.587000														110			37		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383012	22383012	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:22383012T>G	uc001yuc.1	+	6	1521	c.540T>G	c.(538-540)gaT>gaG	p.D180E	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.D180E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTTCTGTGATGTCCGACAGG	0.532000														48			20		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933207	32933207	+	Silent	SNP	C	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:32933207C>G	uc003cff.3	+	3	2574	c.2511C>G	c.(2509-2511)ggC>ggG	p.G837G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	837					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGCAGCGGCTTTGGGCAGA	0.552000														99			70		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330206	125330206	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:125330206G>A	uc004bmp.1	-	0	551	c.551C>T	c.(550-552)cCt>cTt	p.P184L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTTCAGCACAGGGCTGAGGTC	0.453000														13			14		0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65274988	65274988	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:65274988C>T	uc003hcv.3	-	0	191	c.82G>A	c.(82-84)Gat>Aat	p.D28N	TECRL_uc003hcw.3_Missense_Mutation_p.D28N	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	28					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.D28G(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTCATATCATCCTTCAGTATG	0.433000														60			19		0	0	1	0	0
BAALC	79870	broad.mit.edu	37	8	104225165	104225165	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:104225165T>G	uc003yld.3	+	1	384	c.179T>G	c.(178-180)cTg>cGg	p.L60R	BAALC_uc003yle.3_Intron|LOC100499183_uc003ylf.2_Intron|BAALC_uc010mcc.3_5'Flank	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	Homo sapiens brain and acute leukemia, cytoplasmic (BAALC), transcript variant 1, mRNA.	95						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GAAGATGGACTGCCCTCCAAT	0.547000														74			34		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111551725	111551725	+	Missense_Mutation	SNP	G	A	A	rs150003283	by1000genomes	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:111551725G>A	uc010yxk.1	+	4	543	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	107					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GATCCAGACCGAAGCCACCTT	0.537000														38			28		0	0	1	0	0
LOC100132247	100132247	broad.mit.edu	37	16	22545849	22545849	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:22545849C>T	uc010bxg.3	+	8	1727	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	LOC100132247_uc010vbv.2_Silent_p.S515S|LOC100132247_uc021tew.1_Silent_p.S515S|LOC100132247_uc010bxi.3_Silent_p.S496S|LOC100132247_uc010bxk.3_Silent_p.S332S|DQ576951_uc021tey.1_5'Flank|DQ576951_uc010vbx.1_Non-coding_Transcript	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		AGACACCTTCCGAGCGTCAGC	0.582000														284			32		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46487735	46487735	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:46487735C>T	uc001cov.3	+	11	1687	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L	MAST2_uc001cow.3_Silent_p.L468L|MAST2_uc001coy.1_Silent_p.L142L|MAST2_uc001coz.1_Silent_p.L353L|MAST2_uc009vya.3_Silent_p.L390L|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	468					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGCTGGGCCTCACCCGGGATC	0.552000														55			138		0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132051943	132051943	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:132051943G>A	uc011cxf.2	-	6	1102	c.948C>T	c.(946-948)acC>acT	p.T316T	KIF3A_uc003kxn.3_Silent_p.T275T|KIF3A_uc003kxo.3_Silent_p.T316T|KIF3A_uc003kxp.3_Silent_p.T316T	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	316	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACCATCATGGTTTTTGAAT	0.328000														23			8		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872005	51872005	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:51872005C>T	uc002xwo.3	+	1	2895	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L	TSHZ2_uc021wex.1_Silent_p.L667L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	670					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCCCAGCCCCTGGAGCCCAC	0.612000														57			19		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34490385	34490385	+	Missense_Mutation	SNP	G	A	A	rs141157671		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:34490385G>A	uc003zum.3	+	6	713	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	174					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AAAAGTGACTGAAGAAGAATT	0.498000									Kartagener syndrome					30			93		0	0	1	0	0
KBTBD11	9920	broad.mit.edu	37	8	1950698	1950698	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:1950698C>T	uc022aqq.1	+	0	1340	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	KBTBD11_uc003wpw.4_Missense_Mutation_p.A447V	NM_014867	NP_055682	O94819	KBTBB_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 11 (KBTBD11), mRNA.	447										lung(1)|pancreas(1)	2		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)		ggcgccTTCGCCGTGGCGCAT	0.736000														7			3		0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119170443	119170443	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:119170443C>T	uc001pwe.3	+	15	2811	c.2673C>T	c.(2671-2673)atC>atT	p.I891I		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	891	Interaction with CD2AP.|UBA.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCAAAAACATCCTCCGGGAAT	0.493000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					310			218		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28500114	28500114	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:28500114G>A	uc003nll.2	+	3	378	c.376G>A	c.(376-378)Gga>Aga	p.G126R	GPX5_uc003nlm.2_Silent_p.G86G|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	126					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCGTCCAGGGGGAGGATTTGT	0.428000														81			48		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74452038	74452038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:74452038C>T	uc002sko.1	-	23	3225	c.3223G>A	c.(3223-3225)Gag>Aag	p.E1075K	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.E1059K|SLC4A5_uc010ffc.1_Missense_Mutation_p.E978K|SLC4A5_uc002skp.1_Missense_Mutation_p.E957K|SLC4A5_uc002sks.1_Silent_p.Q966Q	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	1075						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTTCCTTCTCTGGGAGGATG	0.527000														55			38		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999232	72999232	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:72999232C>T	uc002lly.3	+	1	2298	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	TSHZ1_uc021uln.1_Missense_Mutation_p.P579S	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	624						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CCTGCACTCCCCAGGGAGCCT	0.657000														35			27		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103836	53103836	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:53103836G>A	uc003tpz.3	+	0	488	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	158										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGACAGAGAgcccgccccgc	0.726000														20			22		0	0	1	0	0
C17orf90	339229	broad.mit.edu	37	17	79632342	79632342	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:79632342G>A	uc002kba.3	-	1	344	c.333C>T	c.(331-333)ttC>ttT	p.F111F	C17orf90_uc002kbb.3_3'UTR|CCDC137_uc002kbc.4_5'Flank	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	Homo sapiens chromosome 17 open reading frame 90 (C17orf90), mRNA.	111										lung(2)|prostate(1)	3	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CACCGTCCTGGAAGTGCTGCA	0.652000														40			23		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004743	41004743	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:41004743C>T	uc002ibv.3	+	0	1543	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	461					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGGTGCTGGTCGTCAGATCTA	0.537000														54			26		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155241715	155241715	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:155241715C>T	uc021xge.1	-	9	1682	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	PLCH1_uc021xgd.1_Missense_Mutation_p.E469K|PLCH1_uc021xgf.1_Missense_Mutation_p.E451K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	469					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CACTCGTCTTCAATTTCATCT	0.408000														85			56		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083780	42083780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:42083780G>A	uc002ore.4	+	1	389	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.R98Q	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	98						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						TACAGCGGTCGAGAGACAATA	0.488000														30			21		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2911389	2911389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:2911389G>A	uc010ckd.3	+	16	1534	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	RAP1GAP2_uc010cke.3_Missense_Mutation_p.E467K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	482					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGCCCAGAGGAGGACAAGTT	0.592000														21			26		0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138117707	138117707	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:138117707C>T	uc003ldh.3	+	1	189	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	CTNNA1_uc011cyx.2_5'UTR|CTNNA1_uc011cyy.2_5'UTR|CTNNA1_uc003ldi.3_5'UTR|CTNNA1_uc003ldj.3_Missense_Mutation_p.L32F	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	32	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTGGAGCCTCTTGTTACACA	0.408000														21			13		0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85484831	85484831	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:85484831G>T	uc001dkp.3	-	12	1784	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	MCOLN3_uc001dko.3_Missense_Mutation_p.S165Y|MCOLN3_uc001dkq.3_Missense_Mutation_p.S490Y	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	546						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GCAGAATAAAGATACTGGAGG	0.373000														56			12		2.68362e-12	2.70904e-12	1	1	0
TP63	8626	broad.mit.edu	37	3	189584501	189584501	+	Missense_Mutation	SNP	G	A	A	rs121908849		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:189584501G>A	uc003fry.2	+	5	886	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	TP63_uc003frx.2_Missense_Mutation_p.R266Q|TP63_uc003frz.2_Missense_Mutation_p.R266Q|TP63_uc010hzc.1_Missense_Mutation_p.R266Q|TP63_uc003fsa.2_Missense_Mutation_p.R172Q|TP63_uc003fsb.2_Missense_Mutation_p.R172Q|TP63_uc003fsc.2_Missense_Mutation_p.R172Q|TP63_uc003fsd.2_Missense_Mutation_p.R172Q|TP63_uc021xir.1_Missense_Mutation_p.R172Q|TP63_uc010hzd.1_Missense_Mutation_p.R87Q|TP63_uc003fse.1_Missense_Mutation_p.R147Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	266			R -> Q (in EEC3).		DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R266*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATTTGATTCGAGTAGAGGGG	0.403000										HNSCC(45;0.13)				31			22		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957987	12957987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:12957987G>A	uc003wwm.2	-	8	2303	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	DLC1_uc003wwk.1_Missense_Mutation_p.S183F|DLC1_uc003wwl.1_Missense_Mutation_p.S217F|DLC1_uc011kxx.1_Missense_Mutation_p.S109F	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	620					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGATGACGGAGTTAGTCCG	0.642000														102			26		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7083593	7083593	+	Missense_Mutation	SNP	G	A	A	rs139902169		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:7083593G>A	uc001mfb.1	+	9	3157	c.2834G>A	c.(2833-2835)tGt>tAt	p.C945Y		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	945					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTAATGCATGTTGTCTGGAT	0.398000														54			29		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772039	143772039	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:143772039C>T	uc011ktx.2	+	0	727	c.727C>T	c.(727-729)Cac>Tac	p.H243Y		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTGCTCCTCCCACCTCTGTGT	0.463000														108			27		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4859775	4859775	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:4859775G>A	uc003bqc.3	+	58	8182	c.7832G>A	c.(7831-7833)aGa>aAa	p.R2611K	ITPR1_uc021wsi.1_Missense_Mutation_p.R2578K|ITPR1_uc021wsj.1_Missense_Mutation_p.R2563K|ITPR1_uc011asu.2_Missense_Mutation_p.R589K|ITPR1_uc010hcc.2_Missense_Mutation_p.R346K|ITPR1_uc011asv.2_Missense_Mutation_p.R302K	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2626					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGCTTGGAAAGAGACAAGTTT	0.438000														11			6		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402324	90402324	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:90402324G>A	uc003pnn.1	-	62	10541	c.10425C>T	c.(10423-10425)atC>atT	p.I3475I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3475					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCGCTTGAGGATTAGCTTCC	0.577000														111			34		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703095	4703095	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:4703095G>A	uc001lzk.2	-	1	1091	c.847C>T	c.(847-849)Cct>Tct	p.P283S	OR51E2_uc021qcr.1_Missense_Mutation_p.P283S	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGACAGGAGGCAGCAGCAGG	0.502000														40			18		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88379773	88379773	+	Missense_Mutation	SNP	C	T	T	rs78562422	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:88379773C>T	uc001tam.1	-	10	1148	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	C12orf50_uc001tan.3_Missense_Mutation_p.R342Q	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	327								p.R327Q(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTCCGCATTTCGATTTTTATT	0.488000														67			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13886118	13886118	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:13886118T>A	uc003jfd.2	-	17	2740	c.2698A>T	c.(2698-2700)Aaa>Taa	p.K900*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	900	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGATATTTTTTCACTTTCT	0.318000									Kartagener syndrome					10			13		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099808	110099808	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:110099808G>A	uc003ymz.4	+	0	156	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	23						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGTGGCCTTAGAATACCAGGT	0.458000														33			27		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169494645	169494645	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:169494645G>A	uc003maf.3	+	44	4679	c.4599G>A	c.(4597-4599)ggG>ggA	p.G1533G	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.G1025G|DOCK2_uc003mah.3_Silent_p.G89G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1533	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGAACGGGATTGTGGACC	0.532000														43			35		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921274	24921274	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:24921274C>T	uc001ywo.3	+	0	734	c.260C>T	c.(259-261)gCt>gTt	p.A87V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	87					cell differentiation|multicellular organismal development|spermatogenesis			p.P86T(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GTCCTGCCGGCTGTGGGTTGG	0.682000														26			7		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869890	151869890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:151869890C>T	uc022chf.1	+	0	580	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	MAGEA6_uc004ffq.1_Nonsense_Mutation_p.Q194*|MAGEA6_uc004ffr.1_Nonsense_Mutation_p.Q194*	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	194	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGACAATCAGATCATGCC	0.557000														11			73		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77020967	77020967	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:77020967C>T	uc002bby.3	-	15	2193	c.2134G>A	c.(2134-2136)Gcc>Acc	p.A712T	SCAPER_uc010bkr.3_Missense_Mutation_p.A20T|SCAPER_uc002bbx.3_Missense_Mutation_p.A466T|SCAPER_uc002bbz.1_Missense_Mutation_p.A583T|SCAPER_uc002bca.1_Missense_Mutation_p.A577T|SCAPER_uc002bcb.1_Missense_Mutation_p.A718T	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	711	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCCTCACGGGCTTTTTCCTTT	0.448000														67			24		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512844	69512844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:69512844C>T	uc021xow.1	-	5	1729	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	524					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CTTCTTCTTTCCTTTTTTGGC	0.393000														111			25		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29122620	29122620	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:29122620G>A	uc002kwu.4	+	13	2327	c.2139G>A	c.(2137-2139)gaG>gaA	p.E713E	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	713			E -> K.		cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGATGTCCGAGATGGATGGAA	0.502000														71			43		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17413097	17413097	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:17413097G>A	uc001baf.3	-	6	835	c.753C>T	c.(751-753)ttC>ttT	p.F251F	PADI2_uc010ocm.2_Missense_Mutation_p.S170L|PADI2_uc001bag.1_Silent_p.F251F	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	251					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGCCTTCCACGAAGAACAGCA	0.622000														120			22		0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214132	3214132	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:3214132G>A	uc002fvi.2	+	0	594	c.528G>A	c.(526-528)gtG>gtA	p.V176V						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		GCCCCAATGTGATCAATCACT	0.517000														35			69		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38874181	38874181	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:38874181G>A	uc021yzh.1	+	62	9455	c.9346G>A	c.(9346-9348)Gag>Aag	p.E3116K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2899K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTTCAGGGGAGGTAAGTCT	0.338000														17			7		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117636	108117636	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:108117636C>T	uc003dxa.1	-	35	5098	c.5041G>A	c.(5041-5043)Gag>Aag	p.E1681K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1681						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCACCTGCTCCTTCAGATCA	0.537000														114			58		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588342	179588342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179588342C>T	uc021vsy.1	-	70	17978	c.17753G>A	c.(17752-17754)gGa>gAa	p.G5918E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2579E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6845	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K5917*(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)			TGGAGGGGTTCCTCTAATAAC	0.438000														10			8		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28884917	28884917	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:28884917G>A	uc002dri.3	+	10	2486	c.2047G>A	c.(2047-2049)Gcg>Acg	p.A683T	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_3'UTR|SH2B1_uc002drj.3_3'UTR|SH2B1_uc002drk.3_3'UTR|SH2B1_uc002drl.3_Missense_Mutation_p.A683T|SH2B1_uc010vdd.2_3'UTR|SH2B1_uc010vde.2_3'UTR|SH2B1_uc002drm.3_3'UTR	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	683					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAAAGAGAAAGCGGGCGGTGG	0.657000														0			2		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307302	102307302	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:102307302G>A	uc003pqp.4	+	9	1751	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	GRIK2_uc003pqn.3_Silent_p.G486G|GRIK2_uc010kcw.3_Silent_p.G486G|GRIK2_uc003pqo.4_Silent_p.G486G|GRIK2_uc021zdk.1_Silent_p.G486G|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	486					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGAAGATGGGAAATATGGAG	0.383000														49			15		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:168233482G>A	uc010jjg.3	-	8	1324	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SLIT3_uc003mab.3_Missense_Mutation_p.P302S|SLIT3_uc010jji.2_Missense_Mutation_p.P302S|SLIT3_uc003mac.1_Missense_Mutation_p.P99S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	302	LRRNT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTGGCAGGAATCTCCATC	0.577000														46			53		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010083	31010083	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:31010083C>A	uc021vfn.1	-	0	141	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	CAPN13_uc021vfm.1_Missense_Mutation_p.D37Y|CAPN13_uc002rnp.1_Missense_Mutation_p.D37Y	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	37	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AATGTCTCATCCTTAAACGTC	0.532000														6			3		0.115264	0.11547	1	1	0
DHX37	57647	broad.mit.edu	37	12	125437078	125437078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:125437078G>A	uc001ugy.3	-	20	2833	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S	DHX37_uc001ugz.1_5'UTR	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	912							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGCATCTTGGGATCCACGAAG	0.662000														37			7		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297327	117297327	+	Missense_Mutation	SNP	C	T	T	rs142374557	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:117297327C>T	uc001egu.4	+	1	165	c.136C>T	c.(136-138)Cct>Tct	p.P46S	CD2_uc010owz.1_Missense_Mutation_p.P46S|CD2_uc010oxa.1_Missense_Mutation_p.P46S	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	46	Ig-like V-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CTTGGACATTCCTAGTTTTCA	0.378000														31			54		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806844	2806844	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:2806844C>T	uc022aqr.1	-	67	10769	c.10379G>A	c.(10378-10380)gGa>gAa	p.G3460E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2775E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1352E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3461						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTAAATTTTCCAAAGTCTTT	0.328000														14			7		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885304	39885304	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:39885304C>T	uc001zkh.3	+	17	3050	c.2871C>T	c.(2869-2871)ttC>ttT	p.F957F	THBS1_uc010bbi.3_Silent_p.F429F	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	957					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AGACCGATTTCCGCCGATTCC	0.493000														27			18		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142221623	142221623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:142221623G>A	uc003ywd.1	-	7	2623	c.2315C>T	c.(2314-2316)cCa>cTa	p.P772L	SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	0					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGCTGCCCTGGGCACAATGT	0.507000														136			67		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60802406	60802406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:60802406C>T	uc010dds.3	-	7	2396	c.2111G>A	c.(2110-2112)gGg>gAg	p.G704E	MARCH10_uc010ddr.3_Missense_Mutation_p.G666E|MARCH10_uc002jag.4_Missense_Mutation_p.G666E|MARCH10_uc002jah.2_Missense_Mutation_p.G665E|BC037347_uc002jaj.1_Intron|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	666							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGGGGAACCCCCGGCTATCTG	0.547000														53			42		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762664	130762664	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:130762664G>A	uc003qcb.3	+	1	3475	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	TMEM200A_uc003qca.3_Missense_Mutation_p.G366E|TMEM200A_uc010kfh.3_Missense_Mutation_p.G366E|TMEM200A_uc010kfi.3_Missense_Mutation_p.G366E|TMEM200A_uc021zfg.1_Missense_Mutation_p.G366E	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	366						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATGGCTCTCGGACCTGGGGCT	0.522000														40			13		0	0	1	0	0
ANKRD5	63926	broad.mit.edu	37	20	10036272	10036272	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:10036272G>A	uc002wno.3	+	10	2688	c.2295G>A	c.(2293-2295)gaG>gaA	p.E765E	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.E765E|ANKRD5_uc010gbz.3_Silent_p.E576E	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	765							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ACATCACAGAGAAAGCTCGAG	0.468000														37			17		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060493	35060493	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:35060493C>T	uc002xff.3	+	2	808	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	DLGAP4_uc010zvp.2_Missense_Mutation_p.P125S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	125					cell-cell signaling	membrane	protein binding	p.P125S(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCTCCAATTTCCCCGTGGCGA	0.632000														97			49		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27141393	27141393	+	Silent	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:27141393T>A	uc002ylx.4	+	9	1365	c.1215T>A	c.(1213-1215)acT>acA	p.T405T	GABPA_uc002yly.4_Silent_p.T405T	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	405					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACTTGAAGACTCTTATTGGAT	0.393000														104			69		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242080067	242080067	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:242080067C>T	uc002wao.2	-	2	431	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PASK_uc010zol.2_Intron|PASK_uc010zom.2_Missense_Mutation_p.E100K|PASK_uc010fzl.2_Missense_Mutation_p.E100K|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Missense_Mutation_p.E100K|PASK_uc002waq.3_Missense_Mutation_p.E100K	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	100					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.E100K(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCGCGGTTCGGACGGGTCC	0.597000														37			28		0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263418	248263418	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:248263418G>A	uc001ids.3	+	2	1078	c.741G>A	c.(739-741)gtG>gtA	p.V247V	OR2L13_uc021pmc.1_Silent_p.V247V	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TAACTGTAGTGATCTTTTACT	0.458000														30			51		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50784856	50784856	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:50784856C>T	uc010enu.1	+	32	4343	c.4296C>T	c.(4294-4296)tcC>tcT	p.S1432S	MYH14_uc002prq.1_Silent_p.S1399S|MYH14_uc002prr.1_Silent_p.S1391S|MYH14_uc010ycb.2_Intron	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1391					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTCAGCTTTCCGAGTGGCGGC	0.682000														21			6		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17555245	17555245	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:17555245G>A	uc001bah.1	+	6	870	c.778G>A	c.(778-780)Gat>Aat	p.D260N		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	260					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CCCCGATGCCGATTTCCTAGG	0.627000														67			130		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980858	70980858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:70980858C>T	uc001swb.4	-	6	1616	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	PTPRB_uc010sto.2_Missense_Mutation_p.R529Q|PTPRB_uc010stp.2_Missense_Mutation_p.R439Q|PTPRB_uc001swc.4_Missense_Mutation_p.R747Q|PTPRB_uc001swa.4_Missense_Mutation_p.R747Q|PTPRB_uc001swd.4_Missense_Mutation_p.R746Q|PTPRB_uc009zrr.2_Missense_Mutation_p.R626Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	529	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTATTTTCGTCCAGGCAC	0.373000														35			17		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010581	45010581	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:45010581C>T	uc003tmh.2	-	7	1068	c.924G>A	c.(922-924)gtG>gtA	p.V308V	MYO1G_uc003tmg.2_Silent_p.V70V|MYO1G_uc010kym.2_Silent_p.V193V|MYO1G_uc003tmi.1_Silent_p.V220V|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Silent_p.V70V	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	308	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CCACATGGTCCACCAGTGCCT	0.632000														23			13		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616265	79616265	+	RNA	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:79616265A>T	uc011ctk.1	-	1		c.1250T>A			SPZ1_uc003kgn.3_Missense_Mutation_p.K77N			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAATTAAAGATATTCTTA	0.378000														28			32		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112650372	112650372	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:112650372G>A	uc021reb.1	-	48	7542	c.7146C>T	c.(7144-7146)ttC>ttT	p.F2382F	C12orf51_uc001ttr.1_Silent_p.F269F	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CGCAGTATGTGAAGTACACCC	0.567000														58			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9002184	9002184	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9002184G>A	uc002mkp.3	-	51	40524	c.40320C>T	c.(40318-40320)ttC>ttT	p.F13440F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.F257F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13442					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F13440F(1)|p.F125F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGATGGGTGAAACCTGCAT	0.507000														15			6		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106746	55106746	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:55106746C>T	uc002qgh.1	+	4	722	c.540C>T	c.(538-540)gcC>gcT	p.A180A	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.A180A	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	180	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGTCCCGGGCCATCTTCTCTG	0.567000														85			72		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284234	152284234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:152284234C>T	uc001ezu.1	-	2	3164	c.3128G>A	c.(3127-3129)aGc>aAc	p.S1043N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1043	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCTGGAGCTGTCTGCTGA	0.572000									Ichthyosis					713			135		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124567295	124567296	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:124567295_124567296GG>AA	uc003eho.3	-	3	768_769	c.471_472CC>TT	c.(469-474)atccgg>atTTgg	p.R158W		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	158	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCAGGCTCCGGATATTGTCCA	0.535000														54			59		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26628180	26628180	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:26628180G>A	uc003xfc.1	-	1	1323	c.887C>T	c.(886-888)tCt>tTt	p.S296F	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.S296F|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.S296F|ADRA1A_uc003xfh.1_Missense_Mutation_p.S296F	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	296					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGGGAAGAAAGACCCTGGAAG	0.368000														38			20		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439538	145439538	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:145439538G>A	uc003lnt.3	+	8	1903	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	SH3RF2_uc011dbl.1_Silent_p.Q555Q|SH3RF2_uc011dbm.1_Silent_p.Q40Q|SH3RF2_uc003lnu.3_Silent_p.Q46Q|SH3RF2_uc011dbn.1_Silent_p.Q46Q|SH3RF2_uc011dbo.2_Silent_p.Q12Q	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	555							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATTCTACCAGCCACAGGGGA	0.667000														36			34		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104912355	104912355	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:104912355C>T	uc001pip.1	-	2	393	c.366G>A	c.(364-366)agG>agA	p.R122R	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_3'UTR	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	143					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTTTCCATATCCTTTGAGCGT	0.443000														46			21		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175688114	175688114	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:175688114C>T	uc003ity.1	-	3	770	c.267_splice	c.e3+1	p.M89_splice	GLRA3_uc003itz.1_Splice_Site_p.M89_splice	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	89					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AAATGCCTACCATGGTCGTCT	0.353000														45			9		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228572	142228572	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:142228572G>A	uc003ywd.1	-	3	1322	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	SLC45A4_uc003ywc.1_Silent_p.S338S|SLC45A4_uc010meq.1_Silent_p.S336S	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	389					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTTTTGTGGGGGAGCCACTTC	0.642000														59			27		0	0	1	0	0
WDR38	401551	broad.mit.edu	37	9	127619824	127619824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:127619824G>A	uc011lzo.2	+	8	919	c.863G>A	c.(862-864)gGg>gAg	p.G288E	WDR38_uc011lzn.2_Missense_Mutation_p.G277E|WDR38_uc011lzp.2_Missense_Mutation_p.G239E|WDR38_uc004box.3_Missense_Mutation_p.G287E	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	Homo sapiens WD repeat domain 38 (WDR38), mRNA.	287										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACCCCAGATGGGAAAATCTTA	0.552000														11			23		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599037	136599037	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:136599037G>A	uc003qgx.1	-	3	1235	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q326*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q326*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q328*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	328					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCAGTTTCCTGATCTCCACCA	0.388000														71			21		0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9122581	9122581	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:9122581G>A	uc002knu.3	+	4	485	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_021074	NP_066552	P19404	NDUV2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	124					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	ATGTATAATCGAAAGCCAGTT	0.368000														67			9		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110835395	110835395	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:110835395C>T	uc001vqw.4	-	27	2162	c.2040G>A	c.(2038-2040)gaG>gaA	p.E680E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	680	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGCGCCCTTCTCTCCTGGCA	0.612000														12			23		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983779	1983779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:1983779C>T	uc021qsx.1	-	17	2100	c.1869G>A	c.(1867-1869)atG>atA	p.M623I	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	623						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCCCTTTATCCATCGGAACCT	0.488000														13			16		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784199	9784199	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:9784199G>A	uc003gmb.4	+	0	942	c.546G>A	c.(544-546)agG>agA	p.R182R		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	182					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACTGGCACAGGGACCAGGCGG	0.617000														63			15		0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610674	78610674	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:78610674G>A	uc003kfx.4	+	9	3208	c.2659_splice	c.e9+1	p.V887_splice	JMY_uc003kfw.1_Splice_Site	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	887					'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GAGGAGGAGAGGTACGTCAAC	0.443000														25			13		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513695	4513695	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:4513695C>T	uc002mar.1	-	2	235	c.235G>A	c.(235-237)Gac>Aac	p.D79N	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	79						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						CACACCAGGTCTTTGGCCCCG	0.622000														19			10		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230877	38230877	+	Missense_Mutation	SNP	G	A	A	rs149253687	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:38230877G>A	uc002ohe.3	-	4	583	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	ZNF573_uc010efs.2_Missense_Mutation_p.R85C|ZNF573_uc002ohd.3_Missense_Mutation_p.R170C|ZNF573_uc002ohf.3_Missense_Mutation_p.R114C|ZNF573_uc002ohg.3_Missense_Mutation_p.R84C|ZNF573_uc021utv.1_Missense_Mutation_p.R84C	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R114C(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAGCCACTACGAAAGTTCTTC	0.373000														63			27		0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82182205	82182205	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:82182205G>A	uc021pux.1	+	2	341	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	FAM213A_uc001kcc.4_Missense_Mutation_p.E71K|FAM213A_uc001kcd.4_Missense_Mutation_p.E60K|FAM213A_uc001kcf.4_Missense_Mutation_p.E71K|FAM213A_uc001kce.4_Missense_Mutation_p.E71K|FAM213A_uc021puy.1_Missense_Mutation_p.E67K	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	71						extracellular region											GGAGCTATGGGAAAAAAATGG	0.483000														31			15		0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871029	2871029	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:2871029C>T	uc002crt.3	+	4	730	c.624C>T	c.(622-624)ttC>ttT	p.F208F	PRSS21_uc002crr.3_Silent_p.F208F|PRSS21_uc002crs.3_Silent_p.F206F	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	208	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACCACCTCTTCCTCAAGTACA	0.542000														231			148		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548752	158548752	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:158548752G>A	uc010pin.2	-	0	938	c.938C>T	c.(937-939)gCt>gTt	p.A313V		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTTCTAAAAGCATTTTTCAT	0.433000														134			21		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46063269	46063269	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:46063269C>T	uc003cpe.3	-	2	395	c.171G>A	c.(169-171)gtG>gtA	p.V57V	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.V57V|XCR1_uc021wwx.1_Silent_p.V57V	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	57					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCTCATACTTCACCAGGACCC	0.572000														31			30		0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113833280	113833280	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:113833280C>T	uc021rmt.1	-	13	1353	c.1272_splice	c.e13+1	p.M424_splice	PCID2_uc001vtb.2_Splice_Site_p.M203_splice|PCID2_uc021rmq.1_Splice_Site_p.M370_splice|PCID2_uc021rmr.1_Splice_Site_p.M370_splice|PCID2_uc021rms.1_Splice_Site_p.M370_splice	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	370					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			ACTCACACACCATGTATATCA	0.433000														33			25		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242451697	242451697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:242451697C>T	uc001hzn.2	-	3	689	c.462G>A	c.(460-462)tgG>tgA	p.W154*	PLD5_uc021pll.1_Nonsense_Mutation_p.W62*|PLD5_uc001hzl.4_Nonsense_Mutation_p.W92*|PLD5_uc001hzm.4_Intron|PLD5_uc001hzo.2_Nonsense_Mutation_p.W62*	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	154						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGTTGAGATCCCAATGGGAAG	0.403000														96			19		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32953298	32953298	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:32953298C>T	uc001mty.3	+	3	374	c.107C>T	c.(106-108)tCc>tTc	p.S36F	QSER1_uc001mtz.1_Missense_Mutation_p.S36F|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	36										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGCATGCATTCCTCAGCAGCA	0.413000														46			37		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109696852	109696852	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:109696852C>T	uc001tob.3	+	46	6554	c.6435C>T	c.(6433-6435)aaC>aaT	p.N2145N	ACACB_uc001toc.3_Silent_p.N2145N|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.N811N	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2145	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGACTTCAACCGGGAGAAGT	0.572000														98			83		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155311831	155311831	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:155311831G>A	uc021xge.1	-	2	610	c.333C>T	c.(331-333)tcC>tcT	p.S111S	PLCH1_uc021xgd.1_Silent_p.S111S|PLCH1_uc021xgf.1_Silent_p.S93S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	111	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTCGGGGTTGGAGGTGATGA	0.567000														21			17		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998696	72998696	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:72998696C>T	uc002lly.3	+	1	1762	c.1199C>T	c.(1198-1200)aCc>aTc	p.T400I	TSHZ1_uc021uln.1_Missense_Mutation_p.T400I	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	445						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTGAAAGTGACCACCTCGGCT	0.607000														34			23		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48925816	48925816	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:48925816G>A	uc002rwu.4	-	8	874	c.804C>T	c.(802-804)ctC>ctT	p.L268L	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	268					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCCTCCAGGAGATTGACAA	0.458000														22			22		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560142	145560142	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:145560142G>A	uc001eob.1	+	7	736	c.628G>A	c.(628-630)Gct>Act	p.A210T	ANKRD35_uc010oyx.1_Missense_Mutation_p.A53T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	210										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCCACGGAGCTGACGCGGG	0.582000														35			85		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70871596	70871596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:70871596C>T	uc002ezr.3	-	76	13387	c.13236G>A	c.(13234-13236)atG>atA	p.M4412I	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4413			K -> E (in dbSNP:rs1774480).							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)				CTGTTACCTTCATTTTGGTAC	0.488000														37			21		0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017137	109017137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:109017137G>A	uc010sxe.2	-	1	1172	c.995C>T	c.(994-996)tCt>tTt	p.S332F	SELPLG_uc001tni.3_Missense_Mutation_p.S316F|SELPLG_uc021rdm.1_Missense_Mutation_p.S306F|SELPLG_uc001tnh.3_Missense_Mutation_p.S306F	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	316					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	p.A332V(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGCTTCACAGAGATGTGGTC	0.577000														17			20		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114088062	114088062	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:114088062G>A	uc001vtq.1	-	2	587	c.500C>T	c.(499-501)cCc>cTc	p.P167L	ADPRHL1_uc001vtp.1_Missense_Mutation_p.P85L	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	167					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTTACCTGTGGGATGGTTGTG	0.662000														3			4		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717458	110717458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:110717458C>T	uc009wfq.3	+	4	1090	c.629C>T	c.(628-630)gCc>gTc	p.A210V		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	210					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TACCGAGAGGCCTTGGACATC	0.582000														34			56		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084897	53084897	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:53084897C>T	uc003xqz.2	-	4	680	c.524G>A	c.(523-525)gGa>gAa	p.G175E	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.G140E|ST18_uc011lds.1_Missense_Mutation_p.G80E|ST18_uc003xra.2_Missense_Mutation_p.G175E|ST18_uc003xrb.2_Missense_Mutation_p.G175E	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	175						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D174Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTTGTCTCTTCCATCATCAGA	0.433000														31			21		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486462	133486462	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:133486462C>T	uc002ttp.3	-	17	5881	c.5507G>A	c.(5506-5508)gGa>gAa	p.G1836E	NCKAP5_uc002ttq.3_Missense_Mutation_p.G517E	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1836							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAGCATATCCGAATGATGA	0.542000														155			94		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138425405	138425405	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:138425405C>T	uc002tva.1	+	25	4623	c.4623C>T	c.(4621-4623)ttC>ttT	p.F1541F		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCATGATTTTCCTAATATTTA	0.313000														7			4		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52397078	52397078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:52397078C>T	uc011bef.2	+	31	5423	c.5162C>T	c.(5161-5163)tCc>tTc	p.S1721F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1721	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCTCTATTCCTTTGGCTTT	0.532000														70			57		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018754	1018754	+	Silent	SNP	C	T	T	rs111246053		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:1018754C>T	uc003gce.3	+	6	1295	c.1134C>T	c.(1132-1134)ccC>ccT	p.P378P	FGFRL1_uc003gcf.3_Silent_p.P378P|FGFRL1_uc003gcg.3_Silent_p.P378P|FGFRL1_uc010ibo.3_Silent_p.P378P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	378				Missing (in Ref. 3; AAK15273).	regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCCGTGGCCCGTGGTCATCG	0.682000														30			47		0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8507797	8507797	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:8507797G>A	uc004csf.3	-	9	1507	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	453	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TTGACAGTGGGATCTATAATG	0.473000														13			6		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29111072	29111072	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:29111072G>A	uc002kwu.4	+	8	1325	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	379	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGGTCAAAGTGAAAAATGTGA	0.368000														71			33		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090482	9090482	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9090482G>A	uc002mkp.3	-	0	1537	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	445	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						TCTTCTCCAGGAGCAGAGGTC	0.478000														77			65		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723366	48723366	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:48723366G>A	uc001rrm.3	+	0	604	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	98					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGCCGCCACGAAGCGCCCAG	0.662000														11			11		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33282819	33282819	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:33282819C>T	uc001bvy.1	-	0	815	c.27G>A	c.(25-27)gaG>gaA	p.E9E	S100PBP_uc001bvz.3_5'Flank|S100PBP_uc001bwa.1_5'Flank|S100PBP_uc001bwb.1_5'Flank|S100PBP_uc001bwc.3_5'Flank	NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	9					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GGTGCAGTTTCTCTTCAGGGC	0.652000														130			22		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509697	228509697	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:228509697G>C	uc009xez.1	+	54	15199	c.15155G>C	c.(15154-15156)cGc>cCc	p.R5052P	OBSCN_uc001hsn.3_Missense_Mutation_p.R5052P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5052					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGACATACCGCGAAGATGAG	0.592000														11			5		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176562432	176562432	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:176562432C>T	uc003mfr.4	+	1	466	c.328C>T	c.(328-330)Cca>Tca	p.P110S	NSD1_uc003mft.4_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.P110S|NSD1_uc011dfx.2_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.P110S|NSD1_uc003mfq.3_Missense_Mutation_p.P110S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	110					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGCTCAGACGCCAATTGTTTG	0.438000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				40			19		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68535278	68535278	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:68535278C>T	uc009xpn.1	-	7	1175	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	CTNNA3_uc001jmw.2_Missense_Mutation_p.G351E|CTNNA3_uc001jmx.4_Missense_Mutation_p.G351E	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	351					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTCTTTTTTTCCAGCCTGCAA	0.358000														24			35		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11015004	11015004	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:11015004G>A	uc002yis.1	-	6		c.1442C>T						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)		GACTGGACAGGAAGATAAGCT	0.403000														22			9		0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576567	158576567	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:158576567C>T	uc010pio.2	+	0	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTAACTGCTTCCTTCTGGCTG	0.557000														42			103		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	11058468	11058468	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:11058468G>A	uc003wtk.1	-	0	408	c.381C>T	c.(379-381)ctC>ctT	p.L127L		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	127						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACAGGCAGTCGAGCCACGGCC	0.761000														61			13		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:20959876C>T	uc010vbe.2	-	56	11272	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_uc010vbd.2_Missense_Mutation_p.E1193K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3758					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCAATTTCCTTACAGTAG	0.532000														3			46		0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687228	158687228	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:158687228C>T	uc021pbn.1	-	0	678	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F226F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AAGAGGGAATCCTCAATATCA	0.443000														26			50		0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50232275	50232275	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:50232275G>A	uc003cym.2	+	7	1056	c.940G>A	c.(940-942)Gag>Aag	p.E314K	GNAT1_uc003cyl.2_Missense_Mutation_p.E314K	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	314					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity	p.E314D(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGACGTGAAGGAGATCTATTC	0.567000											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			15		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30662441	30662441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:30662441G>A	uc002wxh.3	+	4	582	c.345G>A	c.(343-345)tgG>tgA	p.W115*	HCK_uc010gdy.3_Nonsense_Mutation_p.W95*|HCK_uc021wbv.1_Nonsense_Mutation_p.W94*|HCK_uc002wxi.3_Nonsense_Mutation_p.W93*	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	115	SH3.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.V115I(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGAGTGGTGGAAGGCTCGAT	0.547000														151			11		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26781365	26781365	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:26781365G>A	uc002rhk.3	-	0	202	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	25					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTACCTCGGAAAGTCACTT	0.652000														44			46		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58240915	58240915	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:58240915G>A	uc001vhq.1	+	2	3637	c.2745G>A	c.(2743-2745)agG>agA	p.R915R	PCDH17_uc010aec.1_Silent_p.R914R|PCDH17_uc001vhr.1_Silent_p.R4R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	915					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V914I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGTCTGTTAGGGAGGCACTCA	0.473000														36			25		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729593	51729593	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:51729593C>T	uc002pwa.2	+	3	766	c.726C>T	c.(724-726)atC>atT	p.I242I	CD33_uc010eos.1_Silent_p.I242I|CD33_uc010eot.1_Silent_p.I115I|CD33_uc010eou.1_Intron	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	242			I -> L (in dbSNP:rs988337).		cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAACTGGTATCTTTCCAGGAG	0.507000														37			9		0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28476822	28476822	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:28476822G>A	uc009vte.3	-	2	1046	c.711C>T	c.(709-711)gtC>gtT	p.V237V	PTAFR_uc021ojz.1_Silent_p.V237V|PTAFR_uc001bpl.3_Silent_p.V237V|PTAFR_uc001bpm.4_Silent_p.V237V|PTAFR_uc021oka.1_Silent_p.V237V	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	237					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCGCCAAGACCGTGCACA	0.617000														47			11		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281703	152281703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:152281703C>T	uc001ezu.1	-	2	5695	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1887	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGCTTCATGGTGACGC	0.577000									Ichthyosis					198			355		0	0	1	0	0
UBL7	84993	broad.mit.edu	37	15	74742405	74742405	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:74742405A>C	uc002axw.1	-	6	698	c.536T>G	c.(535-537)gTg>gGg	p.V179G	UBL7_uc002axx.1_Missense_Mutation_p.V219G|UBL7_uc002axy.1_Missense_Mutation_p.V179G|UBL7_uc002axz.1_Missense_Mutation_p.V179G	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	179							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTGAGCAGGCACCAACCTAGG	0.577000														10			4		0	0	1	0	0
KLHL5	51088	broad.mit.edu	37	4	39088189	39088189	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:39088189G>A	uc003gtr.2	+	4	1376	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	KLHL5_uc003gtp.3_Missense_Mutation_p.E319K|KLHL5_uc003gtq.3_Missense_Mutation_p.E178K|KLHL5_uc003gts.3_Missense_Mutation_p.E365K|KLHL5_uc003gtt.3_Missense_Mutation_p.E304K	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	365						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAGCCAGCGAAATTGCAAA	0.393000														29			56		0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316847	11316847	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:11316847C>T	uc004cus.3	+	5	434	c.366C>T	c.(364-366)tcC>tcT	p.S122S	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Silent_p.S108S|AMELX_uc004cuu.3_Silent_p.S92S	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	108					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GCCAACACTCCATGACTCCAA	0.637000														12			65		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75436945	75436945	+	Silent	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:75436945T>G	uc001sxg.1	-	4	2401	c.1857A>C	c.(1855-1857)tcA>tcC	p.S619S	KCNC2_uc009zry.3_Intron|KCNC2_uc001sxe.3_Intron|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Silent_p.S564S	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	619					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGTTGTAGGGTGATGTTACTG	0.443000														39			11		0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75801285	75801285	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:75801285G>A	uc002bal.3	-	5	1120	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	204	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTCAGGAGGAGACTGATGA	0.473000														14			7		0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880667	142880667	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142880667T>C	uc011ksw.2	+	0	156	c.156T>C	c.(154-156)aaT>aaC	p.N52N		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	52					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCATTGCAAATGGTTTCATCA	0.413000														32			30		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101835839	101835839	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:101835839C>T	uc001kql.2	-	1	509	c.249G>A	c.(247-249)ggG>ggA	p.G83G		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	83	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CGTGCATGTTCCCCACATACT	0.542000														21			29		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736456	4736456	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:4736456G>A	uc001qnb.4	-	3	1856	c.1612C>T	c.(1612-1614)Cac>Tac	p.H538Y		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	538					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TGGGCCAGGTGATATTGAATC	0.522000														24			3		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429708	135429708	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:135429708G>A	uc004ezu.1	+	5	4134	c.3843G>A	c.(3841-3843)aaG>aaA	p.K1281K	GPR112_uc010nsb.1_Silent_p.K1076K|GPR112_uc010nsc.1_Silent_p.K1048K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1281					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCCATCAAAGAATTCTTTTA	0.433000														4			35		0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763888	82763888	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:82763888G>A	uc004eeg.2	+	0	620	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	186	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCACTCCGACGAGGAGACGCC	0.602000														1			22		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200530	132200530	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:132200530A>T	uc002tst.2	-	0	1938	c.1472T>A	c.(1471-1473)tTt>tAt	p.F491Y						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GATCTCAGGAAAGTTCAGGTC	0.537000														25			20		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127867	152127867	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:152127867G>A	uc001ezs.1	-	2	1773	c.1708C>T	c.(1708-1710)Cat>Tat	p.H570Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	570	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACCATAATGATAGCTCTGG	0.488000														238			500		0	0	1	0	0
C19orf75	284369	broad.mit.edu	37	19	51770777	51770777	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:51770777G>A	uc002pwb.1	+	4	942	c.561G>A	c.(559-561)cgG>cgA	p.R187R	C19orf75_uc010eov.1_Non-coding_Transcript|C19orf75_uc010ycw.1_Silent_p.R93R	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	187						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						CTGAGAGCCGGATATTGGTAT	0.438000														44			42		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602692	96602692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:96602692G>A	uc010qnz.2	+	6	1060	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	CYP2C19_uc010qny.2_Missense_Mutation_p.E332K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	354					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGTGGTGCACGAGGTCCAGAG	0.532000														29			77		0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1997207	1997207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:1997207G>A	uc002cnh.3	-	4	723	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	226					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TTGACGCCTCGACCCTTGGTG	0.647000														66			49		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12888210	12888210	+	Missense_Mutation	SNP	G	A	A	rs77850388		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:12888210G>A	uc002gnr.4	+	19	2629	c.2302G>A	c.(2302-2304)Gaa>Aaa	p.E768K	ARHGAP44_uc010vvk.2_Missense_Mutation_p.E768K|ARHGAP44_uc010vvl.2_Missense_Mutation_p.E762K|ARHGAP44_uc002gns.4_Missense_Mutation_p.E562K|ARHGAP44_uc010vvm.2_Missense_Mutation_p.E762K|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	768					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GTCCCCTGGGGAAAGCATGTC	0.542000														13			21		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966216	20966216	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:20966216C>T	uc010vbe.2	-	54	10990	c.10990G>A	c.(10990-10992)Gcg>Acg	p.A3664T	DNAH3_uc010vbd.2_Missense_Mutation_p.A1099T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3664	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACATCACCGCCTTTGCACAG	0.522000														66			51		0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17826621	17826621	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:17826621C>T	uc003gpp.3	+	9	1590	c.1414C>T	c.(1414-1416)Ccc>Tcc	p.P472S	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	472					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	p.A471V(1)|p.A471A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GATTCGGGCGCCCATTGTTAC	0.328000														10			23		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130935880	130935880	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:130935880C>T	uc001uil.2	-	4	529	c.313G>A	c.(313-315)Gag>Aag	p.E105K	RIMBP2_uc001uim.3_Missense_Mutation_p.E13K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	105						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATAGCGCTCTCCTGACCTGGC	0.562000														19			20		0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30036912	30036912	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:30036912T>C	uc003npb.3	+	2	466	c.210T>C	c.(208-210)ttT>ttC	p.F70F	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	70						soluble fraction	protein binding|protein phosphatase inhibitor activity	p.A69S(1)		lung(2)|ovary(1)|prostate(1)|skin(2)	6						CTCGGGCCTTTGGCGAGAGCT	0.522000														63			20		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19721525	19721525	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:19721525C>T	uc003jgd.3	-	4	1108	c.574G>A	c.(574-576)Gga>Aga	p.G192R	CDH18_uc011cnm.2_Missense_Mutation_p.G192R|CDH18_uc003jgc.3_Missense_Mutation_p.G192R|CDH18_uc021xwu.1_Missense_Mutation_p.G192R	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	192	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCGCTGTTTCCATAGGTAGGG	0.453000														18			19		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233847	61233847	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:61233847G>A	uc010xeo.2	+	6	881	c.881G>A	c.(880-882)aGg>aAg	p.R294K	SERPINB12_uc010xen.2_Missense_Mutation_p.R274K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	274					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TAGCTTGAAAGGAAAATCACC	0.468000														69			58		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312165	45312165	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:45312165T>C	uc003bfn.3	-	3	710	c.559A>G	c.(559-561)Aac>Gac	p.N187D	PHF21B_uc011aqk.2_Missense_Mutation_p.N175D|PHF21B_uc003bfm.3_Missense_Mutation_p.N25D|PHF21B_uc011aql.2_Missense_Mutation_p.N187D|PHF21B_uc011aqm.1_Missense_Mutation_p.N175D	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	187							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTCACCTTGTTGTCAGCACTG	0.622000														6			15		0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578275	48578275	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:48578275G>A	uc001rrj.2	+	0	910	c.370G>A	c.(370-372)Ggg>Agg	p.G124R		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	124						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TCCTTCGCCTGGGATCGGGGA	0.672000														7			10		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33631484	33631484	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:33631484T>C	uc021qfs.1	+	13	4484	c.4360T>C	c.(4360-4362)Tgt>Cgt	p.C1454R		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1454						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TTCAGAACTCTGTGCTCCATT	0.483000														39			32		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502004	20502004	+	Splice_Site	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:20502004T>C	uc010tkz.2	-	1	915	c.915_splice	c.e1+1	p.*305_splice		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GCTTTAAATTTATATGCAGAG	0.294000														4			8		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107244	14107244	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:14107244C>T	uc001avi.3	+	7	3810	c.2954C>T	c.(2953-2955)cCg>cTg	p.P985L	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P985L|PRDM2_uc021ogk.1_Missense_Mutation_p.P748L|PRDM2_uc001avk.3_Missense_Mutation_p.P784L|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	985	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTTGCCACTCCGCCCCCTCCC	0.612000														131			31		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28272903	28272903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:28272903C>T	uc009xky.3	-	5	786	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.E230K|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	230							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTGAAAATTCATAATCTGAA	0.388000														9			16		0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733091	2733091	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:2733091G>A	uc010xgy.1	-	2	857	c.603C>T	c.(601-603)ttC>ttT	p.F201F	SLC39A3_uc002lwg.3_Silent_p.F201F	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	201						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCCCCACGAACAGGCTCA	0.706000														72			47		0	0	1	0	0
GRPEL2	134266	broad.mit.edu	37	5	148730806	148730806	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:148730806C>T	uc003lqj.3	+	3	765	c.639C>T	c.(637-639)gcC>gcT	p.A213A	GRPEL2_uc011dca.2_3'UTR	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	Homo sapiens GrpE-like 2, mitochondrial (E. coli) (GRPEL2), nuclear gene encoding mitochondrial protein, mRNA.	213					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity	p.L212fs*>8(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGGCTTGCCCGAGTGGAAG	0.512000														49			18		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179560117	179560117	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179560117G>A	uc021vsy.1	-	111	27721	c.27496C>T	c.(27496-27498)Cca>Tca	p.P9166S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5827S|TTN_uc010fre.1_Missense_Mutation_p.P277S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10093	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTGGCTGGAACTTTTCTC	0.343000														38			29		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17950420	17950420	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:17950420C>T	uc002nhn.4	-	9	1407	c.1307G>A	c.(1306-1308)gGa>gAa	p.G436E	JAK3_uc010ebh.3_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.G436E|JAK3_uc010xpx.1_Missense_Mutation_p.G436E	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	436	SH2; atypical.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G436G(1)|p.T435I(1)|p.G436R(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AAGGAAGGTTCCTGTGGGGCT	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									9			5		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81283110	81283110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:81283110C>T	uc001szj.1	-	1	314	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	41	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TCTCCAGATTCCTGTAGTTTT	0.348000														19			3		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35873655	35873655	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:35873655A>T	uc003jjs.3	+	4	700	c.611A>T	c.(610-612)aAa>aTa	p.K204I	IL7R_uc011coo.2_Missense_Mutation_p.K204I|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	204	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TATGAGATTAAAGTTCGATCC	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							47			16		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854232	88854232	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:88854232G>A	uc010kbz.3	-	1	892	c.762C>T	c.(760-762)ggC>ggT	p.G254G	CNR1_uc011dzr.2_Silent_p.G254G|CNR1_uc011dzs.2_Silent_p.G254G|CNR1_uc003pmq.4_Silent_p.G254G|CNR1_uc011dzt.2_Silent_p.G254G|CNR1_uc010kca.3_Silent_p.G221G|CNR1_uc021zco.1_Silent_p.G254G	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	254					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGCAGTTCCAGCCCAGGAGAG	0.542000														28			40		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719558	81719558	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:81719558T>A	uc001szo.2	-	21	2801	c.2640A>T	c.(2638-2640)aaA>aaT	p.K880N	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.K806N|PPFIA2_uc021rbh.1_Missense_Mutation_p.K781N|PPFIA2_uc021rbi.1_Missense_Mutation_p.K880N|PPFIA2_uc021rbj.1_Missense_Mutation_p.K880N|PPFIA2_uc021rbk.1_Missense_Mutation_p.K862N|PPFIA2_uc021rbl.1_Missense_Mutation_p.K880N|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.K447N|PPFIA2_uc021rbf.1_Missense_Mutation_p.K97N	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	806										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACCTACTTTTTCTTTAGTC	0.393000														17			8		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89929369	89929369	+	Silent	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:89929369C>A	uc010lep.3	+	16	2297	c.2046C>A	c.(2044-2046)atC>atA	p.I682I	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Silent_p.I357I|C7orf63_uc011khj.2_Silent_p.I664I|C7orf63_uc011khk.2_Silent_p.I244I	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	682							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATGGGAAGATCATTGGTGAGT	0.328000														17			5		1.024e-07	1.02952e-07	1	1	0
KLHL13	90293	broad.mit.edu	37	X	117035816	117035816	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:117035816C>T	uc011mtp.2	-	6	1602	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	KLHL13_uc004eqk.3_Missense_Mutation_p.G436E|KLHL13_uc004eql.3_Missense_Mutation_p.G487E|KLHL13_uc011mtn.2_Missense_Mutation_p.G327E|KLHL13_uc011mto.2_Missense_Mutation_p.G481E|KLHL13_uc011mtq.2_Missense_Mutation_p.G471E|KLHL13_uc004eqm.3_Missense_Mutation_p.G445E|KLHL13_uc022cde.1_Missense_Mutation_p.G471E	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	487					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATCACTCCTCCATACACAGT	0.353000														8			31		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:143771320G>A	uc011ktx.2	+	0	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000														45			33		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113395796	113395796	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:113395796C>T	uc003ynu.3	-	37	6190	c.6031_splice	c.e37+1	p.G2011_splice	CSMD3_uc003yns.3_Splice_Site_p.G1213_splice|CSMD3_uc003ynt.3_Splice_Site_p.G1971_splice|CSMD3_uc011lhx.2_Splice_Site_p.G1907_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2011	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTATTTACCTGAATAGCTT	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				17			13		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039446	31039446	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:31039446G>A	uc002nsu.1	+	3	3058	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	ZNF536_uc010edd.1_Missense_Mutation_p.E974K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Y973N(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATCTCAGTATGAACCCCTGGA	0.592000														85			60		0	0	1	0	0
RPS13	6207	broad.mit.edu	37	11	17096727	17096727	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:17096727G>A	uc001mmp.3	-	4	371	c.339C>T	c.(337-339)ttC>ttT	p.F113F	SNORD14_uc021qei.1_5'Flank	NM_001017	NP_001008	P62277	RS13_HUMAN	Homo sapiens ribosomal protein S13 (RPS13), mRNA.	113					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						GAATCAGACGGAATTTAGCAT	0.363000														30			15		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119592	3119592	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:3119592G>A	uc010vrc.2	+	0	678	c.678G>A	c.(676-678)caG>caA	p.Q226Q		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q226Q(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGTCTTCCAGGTTCCTTCCA	0.478000														38			71		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74627332	74627332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:74627332G>A	uc002axo.3	+	17	2436	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	CCDC33_uc002axp.3_Missense_Mutation_p.R537Q|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Missense_Mutation_p.R308Q|CCDC33_uc002axr.3_Missense_Mutation_p.R274Q	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	884							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACTCAGCTCGACGCTGGGGA	0.577000														49			19		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147591	54147591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:54147591G>A	uc003xrh.1	-	1	713	c.338C>T	c.(337-339)cCc>cTc	p.P113L	OPRK1_uc022aup.1_Intron|OPRK1_uc003xri.1_Missense_Mutation_p.P113L|OPRK1_uc010lyc.1_Missense_Mutation_p.P24L	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	113					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ACTCTGAAAGGGCATGGTTGT	0.383000														66			32		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627122	43627122	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:43627122G>A	uc011lrb.2	-	3	1594	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	522						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						CTGCGATGCAGGGCAAGCTAC	0.507000														247			155		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	350830	350830	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:350830G>A	uc003msx.3	+	7	956	c.517G>A	c.(517-519)Gga>Aga	p.G173R	DUSP22_uc003msy.1_3'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	173					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P172Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCCGCTCCGGGAATTCTGAA	0.403000														47			20		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74313347	74313347	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:74313347G>A	uc003hgz.1	+	7	1059	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	AFP_uc011cbg.1_Missense_Mutation_p.D112N	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	338	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGAGATAGAGATTTTAACCA	0.358000									Alpha-Fetoprotein, Hereditary Persistence of					32			7		0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48906539	48906539	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:48906539G>A	uc003gyt.3	-	1	231	c.28C>T	c.(28-30)Caa>Taa	p.Q10*	OCIAD2_uc003gyu.3_Nonsense_Mutation_p.Q10*	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	10	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TCTTTATCTTGGTTTCCACGA	0.443000														61			20		0	0	1	0	0
BX647938	0	broad.mit.edu	37	12	9717743	9717743	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:9717743C>T	uc001qwb.1	+	5		c.4172C>T								Homo sapiens mRNA; cDNA DKFZp686A1124 (from clone DKFZp686A1124).																		AATTTCCATCCTTTATTCCCT	0.418000														2			8		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341776	128341776	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:128341776G>A	uc002top.3	+	12	1476	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	475	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CATGGAGCAAGAGGAGTACCG	0.572000														35			16		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390904	100390904	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:100390904C>T	uc003pqh.1	-	3	823	c.508G>A	c.(508-510)Gtc>Atc	p.V170I	MCHR2_uc003pqi.1_Missense_Mutation_p.V170I	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	170						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCGAGTAGACCCAGACAGGC	0.453000														95			23		0	0	1	0	0
BTF3	689	broad.mit.edu	37	5	72800226	72800226	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:72800226C>T	uc003kcr.1	+	4	815	c.572C>T	c.(571-573)cCa>cTa	p.P191L	BTF3_uc003kcq.1_Missense_Mutation_p.P147L	NM_001037637	NP_001198	P20290	BTF3_HUMAN	Homo sapiens basic transcription factor 3 (BTF3), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GATGAAGTTCCAGGTAGGAAC	0.383000														12			19		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32258906	32258906	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:32258906G>A	uc001bts.1	-	12	2716	c.2658C>T	c.(2656-2658)gtC>gtT	p.V886V	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Silent_p.V886V|SPOCD1_uc001btv.3_Silent_p.V379V	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	886	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGTGTCCCGAGACCAGCTGGG	0.637000														12			3		0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160535278	160535278	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:160535278C>T	uc001fwh.4	-	1	383	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CD84_uc001fwf.4_Missense_Mutation_p.E102K|CD84_uc009wtn.3_Missense_Mutation_p.E102K|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.E102K|CD84_uc001fwj.3_Missense_Mutation_p.E102K|CD84_uc001fwk.3_Missense_Mutation_p.E102K	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	102					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.M101_E102>I*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTGCGTCTTCCATCCTCAGA	0.458000														82			150		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912907	23912907	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:23912907G>A	uc001uon.2	-	9	5697	c.5108C>T	c.(5107-5109)aCc>aTc	p.T1703I	SACS_uc001uoo.2_Missense_Mutation_p.T1556I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1703					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTGGGGTTGGTTTCCTCAAT	0.353000														32			10		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10355552	10355552	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:10355552C>T	uc002gmn.3	-	26	3555	c.3444G>A	c.(3442-3444)gaG>gaA	p.E1148E	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1148					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CACTGATCTCCTCCAGCTCCC	0.617000														29			67		0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163277	211163277	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:211163277C>T	uc002vec.3	-	2	300	c.171G>A	c.(169-171)gaG>gaA	p.E57E	MYL1_uc002veb.3_Silent_p.E13E	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	57	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGAGAAATGCCTCCTTGAATT	0.418000														35			9		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409144	130409144	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:130409144C>T	uc004ewe.4	-	16	3599	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	IGSF1_uc004ewd.3_Missense_Mutation_p.E1101K|IGSF1_uc022cdv.1_Missense_Mutation_p.E1092K|IGSF1_uc004ewf.2_Missense_Mutation_p.E1081K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1101	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGAGCCCCCTCCTTCAACAGG	0.547000														28			132		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509759	24509759	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:24509759A>C	uc003jgr.2	-	6	1678	c.1172T>G	c.(1171-1173)tTt>tGt	p.F391C	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L390L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGAACTTCAAACAGATAGGA	0.388000										HNSCC(23;0.051)				58			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179629430G>A	uc021vsy.1	-	41	10037	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_uc021vsz.1_Missense_Mutation_p.S3225F|TTN_uc021vta.1_Missense_Mutation_p.S3225F|TTN_uc021vtb.1_Missense_Mutation_p.S3225F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3271F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3271	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTACCAGGAAATTTTGGG	0.527000														80			44		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893104	76893104	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:76893104C>T	uc001oyb.2	+	23	3284	c.3012C>T	c.(3010-3012)ttC>ttT	p.F1004F	MYO7A_uc010rsl.2_Silent_p.F1004F|MYO7A_uc010rsm.1_Silent_p.F993F|MYO7A_uc001oyc.2_Silent_p.F1004F|MYO7A_uc001oyd.3_Silent_p.F344F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.F215F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1004					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGCCAAGTTCGCGGCCACCT	0.607000														58			39		0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35978400	35978400	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:35978400G>A	uc002hoi.2	-	13	1723	c.1679C>T	c.(1678-1680)cCa>cTa	p.P560L	DDX52_uc002hoh.2_Missense_Mutation_p.P452L	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	560	Lys-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCTTTCCAATGGTTTCTTAAT	0.303000														17			7		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924569	166924569	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:166924569G>A	uc003irh.2	+	5	1306	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TLL1_uc021xud.1_Missense_Mutation_p.G220E|TLL1_uc011cjn.2_Missense_Mutation_p.G220E|TLL1_uc011cjo.2_Missense_Mutation_p.G44E	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	220	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTCGGCGAGGAAATGGACCT	0.438000														21			47		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656185	167656185	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:167656185C>T	uc011cjq.1	-	9	1282	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D400N|SPOCK3_uc011cjr.1_Missense_Mutation_p.D280N|SPOCK3_uc003iri.1_Missense_Mutation_p.D400N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D349N|SPOCK3_uc003irj.1_Missense_Mutation_p.D397N|SPOCK3_uc011cjt.1_Missense_Mutation_p.D308N|SPOCK3_uc011cjp.2_Missense_Mutation_p.D357N|SPOCK3_uc011cju.1_Missense_Mutation_p.D304N|SPOCK3_uc011cjv.1_Missense_Mutation_p.D302N	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	400	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tcctcatcatcagtccattca	0.353000														27			9		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148346680	148346680	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:148346680G>A	uc001eqf.3	-	0	112	c.77C>T	c.(76-78)cCc>cTc	p.P26L	NBPF14_uc001eqe.3_5'UTR|NBPF14_uc001eqg.3_5'UTR|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc001erd.4_Missense_Mutation_p.P26L|NBPF14_uc010paj.2_5'UTR|NBPF14_uc010pav.2_Missense_Mutation_p.P26L|NBPF14_uc010paw.2_5'UTR	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	0						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGCCAACTGGGGGCGCAATTT	0.502000														227			30		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984721	110984721	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:110984721A>G	uc003ynr.4	-	1	1561	c.757T>C	c.(757-759)Ttc>Ctc	p.F253L	KCNV1_uc010mcw.3_Missense_Mutation_p.F253L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	253						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.W252C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCCCCGGTGAACCAGCTAATG	0.537000														52			19		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345121	20345121	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:20345121G>A	uc001vwh.1	+	0	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G232R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTCCAGAGGATCATCTAAG	0.383000														39			65		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567356	179567356	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179567356G>A	uc021vsy.1	-	103	26751	c.26526C>T	c.(26524-26526)aaC>aaT	p.N8842N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.N5503N|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9769	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCACGATGTTCTGTATGC	0.393000														45			17		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262319	61262319	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:61262319C>T	uc010xep.2	+	6	867	c.699C>T	c.(697-699)ttC>ttT	p.F233F	SERPINB13_uc002ljc.3_Silent_p.F224F|SERPINB13_uc002ljd.3_Silent_p.F88F|SERPINB13_uc010xeq.2_Silent_p.F45F|SERPINB13_uc010xer.2_Silent_p.F45F	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	224					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCTTCACTTTCCTGGAGGACT	0.433000														55			25		0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197586282	197586282	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:197586282G>A	uc002utp.1	+	20	2431	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	CCDC150_uc010zgs.1_Missense_Mutation_p.E413K|CCDC150_uc010zgt.1_Missense_Mutation_p.E183K|CCDC150_uc002utq.1_Missense_Mutation_p.E81K|CCDC150_uc002utr.1_Missense_Mutation_p.E81K	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	766										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTAGCTAGAGAAGACAACAG	0.388000														8			9		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56190614	56190614	+	Silent	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:56190614T>G	uc002xyo.3	-	2	563	c.282A>C	c.(280-282)gcA>gcC	p.A94A	ZBP1_uc010gjm.3_Silent_p.A94A|ZBP1_uc002xyp.3_Silent_p.A19A|ZBP1_uc010zzn.2_Silent_p.A94A	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	94						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GAATTGTAGCTGCATGTTGCT	0.592000														75			29		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175135	102175135	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:102175135C>T	uc003dvt.1	+	3	574	c.474C>T	c.(472-474)atC>atT	p.I158I	ZPLD1_uc003dvs.1_Silent_p.I142I|ZPLD1_uc011bhg.1_Silent_p.I142I	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	142	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CACCAACAATCATCAGCTATC	0.378000														77			59		0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68419059	68419059	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:68419059C>T	uc003xxq.4	-	5	855	c.599G>A	c.(598-600)tGg>tAg	p.W200*	CPA6_uc003xxr.4_Nonsense_Mutation_p.W52*|CPA6_uc003xxs.2_Nonsense_Mutation_p.W200*	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	200					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGACCAATCCATTCTCTTGC	0.423000														32			27		0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379527	45379527	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:45379527C>T	uc002zdx.3	+	3	891	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	AGPAT3_uc002zdv.3_5'UTR|AGPAT3_uc002zdw.3_5'UTR|AGPAT3_uc002zdy.3_5'UTR	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	0					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGGCTGTCCTCAGCGAGGGGC	0.667000														51			39		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156837938	156837938	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:156837938C>T	uc001fqh.1	+	4	527	c.471C>T	c.(469-471)cgC>cgT	p.R157R	NTRK1_uc001fqf.1_Silent_p.R127R|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.R157R|NTRK1_uc009wsk.1_Silent_p.R157R	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	157	LRRCT.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGCCCTGCGCTGGCTACAGC	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				101			13		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97771853	97771853	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:97771853C>T	uc001drv.3	-	17	2196	c.2059_splice	c.e17-1	p.D687_splice		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	687					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGCTCTGGATCCTGTTCAAAT	0.428000														49			94		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65680892	65680892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:65680892C>T	uc002aou.1	-	15	2950	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	IGDCC4_uc002aot.1_Missense_Mutation_p.E502K	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	914	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTGTCGCTCTCCAGGCCATGG	0.627000														76			25		0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151133436	151133436	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:151133436G>A	uc001ewy.3	-	2	1242	c.606C>T	c.(604-606)gtC>gtT	p.V202V	SCNM1_uc021oyk.1_Intron|LYSMD1_uc010pcr.2_Silent_p.V154V	NM_212551	NP_997716	Q96S90	LYSM1_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 1 (LYSMD1), transcript variant 1, mRNA.	202					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGGACCTAGGACTGCTCGTT	0.572000														80			31		0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324395	27324395	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:27324395G>A	uc010eyr.2	-	4	1075	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Intron|CGREF1_uc002riq.3_Missense_Mutation_p.A235V|CGREF1_uc021vfa.1_Missense_Mutation_p.A235V|CGREF1_uc010eys.2_Missense_Mutation_p.A235V|CGREF1_uc002rir.2_Missense_Mutation_p.A235V	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	235					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCCAGGGGCATCTCCTTT	0.672000														232			90		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2000354	2000354	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:2000354C>T	uc003wpx.4	+	2	324	c.186C>T	c.(184-186)tcC>tcT	p.S62S	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	62					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCCAGACGTCCCTGGGAGGAA	0.577000														85			27		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36047937	36047937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:36047937C>T	uc002oal.1	-	11	1776	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	ATP4A_uc010eee.1_Intron	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	583					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.D583N(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCCTCTACGTCGAAGGCATAG	0.582000														54			25		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430816	57430816	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:57430816C>T	uc001smw.4	-	19	2355	c.2115G>A	c.(2113-2115)caG>caA	p.Q705Q	MYO1A_uc010sqz.2_Silent_p.Q543Q|MYO1A_uc009zpd.3_Silent_p.Q705Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	705	IQ 1.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGTAAATCTTCTGTATGAGTG	0.552000														69			26		0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151082370	151082370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:151082370C>T	uc011kvk.1	-	3	1179	c.730G>A	c.(730-732)Gag>Aag	p.E244K	WDR86_uc003wka.2_Intron|WDR86_uc003wkb.2_Intron|WDR86_uc003wkc.2_Intron			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	244										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGACCTCTCCCTCTATAAG	0.647000														15			10		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748969	30748969	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30748969C>T	uc002dze.1	+	33	7993	c.7608C>T	c.(7606-7608)atC>atT	p.I2536I	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.I2331I	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2536	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGTGCCCATCTCTGCCTCAG	0.587000														72			48		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084992	53084992	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:53084992C>T	uc003xqz.2	-	4	585	c.429G>A	c.(427-429)caG>caA	p.Q143Q	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.Q108Q|ST18_uc011lds.1_Silent_p.Q48Q|ST18_uc003xra.2_Silent_p.Q143Q|ST18_uc003xrb.2_Silent_p.Q143Q	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	143						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CACTTACAGTCTGAACAGATA	0.383000														46			26		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662260	99662260	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:99662260C>T	uc010nmz.3	-	0	3012	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	PCDH19_uc004efw.4_Missense_Mutation_p.E446K|PCDH19_uc004efx.4_Missense_Mutation_p.E446K	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	446	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTGTCATTTTCGTCAGTGATG	0.572000														42			30		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77244168	77244168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:77244168C>T	uc004ecx.4	+	2	711	c.551C>T	c.(550-552)tCa>tTa	p.S184L	ATP7A_uc004ecw.2_Missense_Mutation_p.S184L	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	184	HMA 2.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ACCTGCCATTCATGTACTAGC	0.433000														19			98		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354137	57354137	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:57354137G>A	uc003xsz.2	-	1	579	c.498C>T	c.(496-498)aaC>aaT	p.N166N	PENK_uc003xta.3_Silent_p.N166N	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	166					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TACGCTCTCGGTTGTCCCCTG	0.537000														85			36		0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267062	124267062	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:124267062G>A	uc010saj.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GATTGAAGAGGAAATAGTACA	0.383000														71			31		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247326	10247326	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:10247326G>A	uc002gmk.1	-	15	1775	c.1685C>T	c.(1684-1686)tCc>tTc	p.S562F	MYH13_uc010vvf.1_Missense_Mutation_p.S237F	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	562	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAAGTTGTTGGATTTTCCAAG	0.547000														17			47		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400580	85400580	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:85400580C>T	uc002ble.3	+	5	3384	c.3217C>T	c.(3217-3219)Cct>Tct	p.P1073S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1073					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTTCTCTTCCTGGAACTGG	0.642000														19			9		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28926124	28926124	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:28926124G>A	uc002kwp.3	+	13	2275	c.2063G>A	c.(2062-2064)gGt>gAt	p.G688D	DSG1_uc010xbp.2_Missense_Mutation_p.G47D|U6_uc021uin.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	688					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGAGAAGGAGGTCTGAATATG	0.428000														70			21		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48766501	48766501	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:48766501G>A	uc001zwx.2	-	33	4556	c.4161C>T	c.(4159-4161)taC>taT	p.Y1387Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1387	EGF-like 23; 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)		ACAGACAGCGGTAAGATCCCA	0.448000														16			6		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922178	37922178	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:37922178C>T	uc002hsu.3	-	7	1457	c.1395G>A	c.(1393-1395)gtG>gtA	p.V465V	IKZF3_uc002htd.3_Silent_p.V431V|IKZF3_uc010cwd.3_Silent_p.V322V|IKZF3_uc002hsv.3_Silent_p.V392V|IKZF3_uc010cwe.3_Silent_p.V331V|IKZF3_uc010cwf.3_Silent_p.V283V|IKZF3_uc010cwg.3_Silent_p.V244V|IKZF3_uc002hsw.3_Silent_p.V426V|IKZF3_uc002hsx.3_Silent_p.V409V|IKZF3_uc002hsy.3_Silent_p.V426V|IKZF3_uc002hsz.3_Silent_p.V370V|IKZF3_uc002hta.3_Silent_p.V387V|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.V378V|IKZF3_uc002htc.3_Silent_p.V218V|IKZF3_uc010wel.2_Silent_p.V218V	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	465					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGTGAACATCACATAGTCCA	0.522000														91			41		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220355280	220355280	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:220355280C>T	uc010fwg.3	+	36	9071	c.9071C>T	c.(9070-9072)tCc>tTc	p.S3024F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3024	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.M3023I(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGATCATGTCCCTGCACGAG	0.632000														29			23		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349303	100349304	+	Missense_Mutation	DNP	TG	AC	AC			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:100349303_100349304TG>AC	uc003huv.2	-	3	564_565	c.323_324CA>GT	c.(322-324)cca>cGT	p.P108R	ADH7_uc021xqj.1_Missense_Mutation_p.P116R	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	108					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CTCTACATTGTGGCAGAAAGAG	0.337000														63			20		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889856	23889856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:23889856C>T	uc001ywj.4	-	0	3138	c.3034G>A	c.(3034-3036)Gtg>Atg	p.V1012M		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGTGCCTCCACCTTGGAATTA	0.582000														13			17		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45924212	45924212	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:45924212G>A	uc001jce.3	+	7	1080	c.981_splice	c.e7+1	p.Q327_splice	ALOX5_uc009xmt.3_Splice_Site_p.Q327_splice|ALOX5_uc010qfg.2_Splice_Site_p.Q327_splice|ALOX5_uc021ppr.1_Splice_Site_p.Q327_splice	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	327	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TTGCCATCCAGGTAGGCTGCT	0.567000														9			20		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21826263	21826263	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:21826263G>A	uc003svc.3	+	59	9671	c.9640G>A	c.(9640-9642)Gcc>Acc	p.A3214T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3214	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3214G(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGCTGAAAGCCTTTCCCAA	0.517000									Kartagener syndrome					68			34		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890441	229890441	+	Silent	SNP	C	T	T	rs140609082		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:229890441C>T	uc002vpr.4	-	2	698	c.660G>A	c.(658-660)agG>agA	p.R220R	PID1_uc002vps.4_Silent_p.R218R|PID1_uc002vpt.4_Silent_p.R187R|PID1_uc002vpu.4_Silent_p.R138R	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	220	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGAAAGTCTTCCTGAAGGCCT	0.552000														65			44		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333651	47333651	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:47333651C>T	uc001cqo.1	-	7		c.1076G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CTAGGAGTTCCCTGATTTCAT	0.428000														30			5		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590492	101590492	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:101590492C>T	uc001kqf.2	+	20	2906	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	923						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAATGGCAGGCATCTGAAGTC	0.463000														21			25		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22206685	22206686	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:22206685_22206686GG>AA	uc009vqd.3	-	16	2300_2301	c.2260_2261CC>TT	c.(2260-2262)cct>TTt	p.P754F	HSPG2_uc001bfj.3_Missense_Mutation_p.P753F	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	753	Laminin EGF-like 1; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCCACCAGGCACCCGAGTG	0.599000														60			9		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60585065	60585065	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:60585065C>T	uc001xer.4	+	5	1417	c.895C>T	c.(895-897)Cgt>Tgt	p.R299C	C14orf135_uc001xeq.2_Missense_Mutation_p.R299C|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	533						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CATACGTGATCGTTTGATTCA	0.323000														2			14		0	0	1	0	0
MIR143HG	728264	broad.mit.edu	37	5	148808503	148808503	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:148808503C>T	uc003lqp.2	+	4		c.5695C>T			MIR143HG_uc021yfm.1_Non-coding_Transcript|MIR143HG_uc021yfn.1_Non-coding_Transcript|MIR143HG_uc003lqs.2_Non-coding_Transcript|MIR143HG_uc021yfo.1_Non-coding_Transcript					Homo sapiens MIR143 host gene (non-protein coding) (MIR143HG), non-coding RNA.																		GTCTCCCAGCCTGAGGTGCAG	0.612000														15			8		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	101847244	101847245	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:101847244_101847245GG>AA	uc003pqp.4	+	0	384_385	c.91_92GG>AA	c.(91-93)gga>AAa	p.G31K	GRIK2_uc021zdi.1_Non-coding_Transcript|GRIK2_uc021zdj.1_Missense_Mutation_p.G31K|GRIK2_uc003pqn.3_Missense_Mutation_p.G31K|GRIK2_uc010kcw.3_Missense_Mutation_p.G31K|GRIK2_uc003pqo.4_Missense_Mutation_p.G31K|GRIK2_uc021zdk.1_Missense_Mutation_p.G31K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	31					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATATTCTCAAGGAACCACACAT	0.470000														85			9		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553490	106553490	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:106553490G>A	uc003prd.2	+	4	1689	c.1455G>A	c.(1453-1455)agG>agA	p.R485R	PRDM1_uc003pre.3_Silent_p.R351R	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	485					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGCATCCCAGGGAGGTGCTTG	0.687000			"""D, N, Mis, F, S"""		DLBCL									72			47		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206581035	206581035	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:206581035T>C	uc002vaw.3	+	2	1161	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	NRP2_uc002vat.3_Missense_Mutation_p.F124L|NRP2_uc002vau.3_Missense_Mutation_p.F124L|NRP2_uc002vav.3_Missense_Mutation_p.F124L|NRP2_uc002vax.3_Missense_Mutation_p.F124L|NRP2_uc002vay.3_Missense_Mutation_p.F124L|NRP2_uc010fud.3_Missense_Mutation_p.F124L	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	124	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTACATCAGGTTCACCTCCGA	0.622000														50			47		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751497	140751497	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140751497G>A	uc003ljw.2	+	0	1536	c.1536G>A	c.(1534-1536)ggG>ggA	p.G512G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.G512G|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	514	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGCGGGGTGGTGTTCG	0.672000														58			41		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955946	38955946	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:38955946C>T	uc002hvh.1	-	0	266	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	67	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCAGCATTTCCAAGGGCACC	0.537000														89			17		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142166030	142166030	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:142166030C>T	uc003yvy.3	+	7	1195	c.917C>T	c.(916-918)cCt>cTt	p.P306L	DENND3_uc010mep.3_Missense_Mutation_p.P319L|DENND3_uc003yvz.1_5'Flank	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	306										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGACATTCCTGATGTCCCC	0.448000														60			40		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974336	16974336	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:16974336G>A	uc009vow.2	+	4		c.1146G>A			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CGCGGGAAGGGTGAGGGCTAC	0.637000														81			7		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694456	42694456	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:42694456C>T	uc010ggo.3	+	6	1105	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	TOX2_uc002xle.4_Silent_p.F313F|TOX2_uc010ggp.3_Silent_p.F313F|TOX2_uc002xlf.4_Silent_p.F337F|TOX2_uc010zwk.2_Silent_p.F233F	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGCCTCCTTCCTGACGCCGT	0.657000														176			70		0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74964078	74964078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:74964078G>A	uc002ayn.3	-	5	690	c.202C>T	c.(202-204)Cca>Tca	p.P68S	EDC3_uc002ayo.3_Missense_Mutation_p.P68S|EDC3_uc002aym.3_Missense_Mutation_p.P68S	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	68	Required for P-body targeting and interaction with DCP1A (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCAGGTCCTGGTATCTCCAGA	0.433000														37			44		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143413154	143413154	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:143413154G>A	uc003ywj.3	-	3	823	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	TSNARE1_uc011lju.2_Nonsense_Mutation_p.Q262*|TSNARE1_uc003ywk.3_Nonsense_Mutation_p.Q262*|TSNARE1_uc003ywl.4_Nonsense_Mutation_p.Q43*	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	262					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GACATCTCCTGGAACAGCTCC	0.617000														10			4		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154864963	154864963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:154864963C>T	uc010hvr.1	+	14	1658	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	MME_uc003fab.1_Missense_Mutation_p.P483S|MME_uc003fac.1_Missense_Mutation_p.P483S|MME_uc003fad.1_Missense_Mutation_p.P483S|MME_uc003fae.1_Missense_Mutation_p.P483S	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	483					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.P483A(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GATCGGCTATCCTGATGACAT	0.328000														36			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060431	9060431	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9060431C>T	uc002mkp.3	-	2	27219	c.27015G>A	c.(27013-27015)agG>agA	p.R9005R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9007	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						TGCTGGTCTCCCTTGGTGTGG	0.498000														62			38		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30536228	30536228	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30536228G>A	uc002dyk.4	-	1	1409	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ZNF768_uc010vex.2_Silent_p.S380S|ZNF768_uc010vew.2_Silent_p.S380S	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	411					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CCGACCGCTGGGAGAAGCTCT	0.657000														47			13		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944679	10944679	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:10944679C>T	uc002yip.1	-	10	923	c.555G>A	c.(553-555)agG>agA	p.R185R	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.R167R|TPTE_uc002yir.1_Silent_p.R147R|TPTE_uc010gkv.1_Silent_p.R47R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	185					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)		TGGGAATATTCCTAAGCAACT	0.284000														164			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229899	140229899	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140229899C>T	uc003lhu.2	+	0	2543	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.L607F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	620	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGTGGCTTTCATACGA	0.672000														64			49		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94777836	94777836	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:94777836C>T	uc011lgk.2	+	5	684	c.613C>T	c.(613-615)Cct>Tct	p.P205S	TMEM67_uc010mat.1_Missense_Mutation_p.P120S|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Missense_Mutation_p.P124S	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	205					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	p.P195S(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AGGGAATTTTCCTCTACGTAG	0.328000														23			14		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976293	166976293	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:166976293C>T	uc003irh.2	+	12	2237	c.1590C>T	c.(1588-1590)agC>agT	p.S530S	TLL1_uc011cjn.2_Silent_p.S553S|TLL1_uc011cjo.2_Silent_p.S354S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	530	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGAAAATAGCCCTTTGATAG	0.368000														31			45		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49738092	49738092	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:49738092C>T	uc003cxh.3	+	14	1313	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	RNF123_uc010hky.1_Silent_p.I71I|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	409						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGCTCACTATCGCCATCCTGA	0.607000														85			55		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040593	147040593	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:147040593C>T	uc010jgo.1	-	1	693	c.545G>A	c.(544-546)gGg>gAg	p.G182E	JAKMIP2_uc003loq.1_Missense_Mutation_p.G182E|JAKMIP2_uc011dbx.1_Missense_Mutation_p.G140E|JAKMIP2_uc003lor.1_Missense_Mutation_p.G182E|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	182						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAAGGTCCCCAGCCTTGAT	0.517000														94			66		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26359298	26359298	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:26359298C>T	uc001isn.2	+	13	1687	c.1327C>T	c.(1327-1329)Ctt>Ttt	p.L443F	MYO3A_uc009xko.1_Missense_Mutation_p.L443F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.L443F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	443	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAATGCTCATCTTTTAGTTCA	0.323000														22			3		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50209163	50209163	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:50209163C>T	uc001zxu.3	-	19	2251	c.2109G>A	c.(2107-2109)ggG>ggA	p.G703G	ATP8B4_uc010ber.3_Silent_p.G576G|ATP8B4_uc010ufd.2_Silent_p.G513G|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	703					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CAGCATTATTCCCTGCTATCA	0.448000														37			7		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127730909	127730909	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:127730909G>A	uc003kuu.3	-	8	1576	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	FBN2_uc003kuv.2_Silent_p.L346L	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	379	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTCCCCGGGAGCTCTTGTG	0.532000														24			16		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56137260	56137260	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:56137260G>A	uc002xyn.4	+	2	521	c.358G>A	c.(358-360)Gag>Aag	p.E120K	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	120					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GATGTCAGAGGAGGATTTTGA	0.502000														47			13		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566080	5566080	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5566080G>A	uc010qzh.2	-	0	674	c.674C>T	c.(673-675)tCc>tTc	p.S225F	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S225S(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTGCGTAGGAAACAGCAAT	0.512000														29			17		0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068091	5068091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5068091G>A	uc010qyv.2	+	0	336	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACTGGCATGGAGGCTGAGG	0.512000														20			18		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462256	74462256	+	Missense_Mutation	SNP	G	A	A	rs144083187		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:74462256G>A	uc002sko.1	-	16	2407	c.2405C>T	c.(2404-2406)cCc>cTc	p.P802L	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P802L|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802L|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	802						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGCAGCTTGGGAGTTTCTAG	0.547000														26			12		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655480	142655480	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142655480C>T	uc003wcb.3	-	4	646	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	146					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGGCTTTCTCCTCCCCAGAG	0.478000														25			14		0	0	1	0	0
SMA	0	broad.mit.edu	37	5	68902941	68902941	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:68902941C>T	uc010ixi.1	+	0		c.16C>T								Homo sapiens cDNA, FLJ18088.																		CTCACTGCTTCCTACTAAAGG	0.403000														186			25		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46287844	46287844	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:46287844C>T	uc002ldd.3	+	9	1520	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N	CTIF_uc002ldc.3_Silent_p.N385N|CTIF_uc002lde.4_Silent_p.N14N	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	385	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TGCGGAACAACAGCAGCGACG	0.587000														48			25		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796697	109796697	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:109796697C>T	uc003ymy.1	-	1	736	c.631G>A	c.(631-633)Gcc>Acc	p.A211T	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.A211T	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	211					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			ATCTCCCGGGCTGCCACAGTG	0.617000														45			11		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870558	51870558	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:51870558G>A	uc002xwo.3	+	1	1448	c.561G>A	c.(559-561)tcG>tcA	p.S187S	TSHZ2_uc021wex.1_Silent_p.S184S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	187					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGTCCGTCTCGAAACCCAGCC	0.557000														46			24		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148996174	148996174	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:148996174C>T	uc003lra.1	+	4	567	c.503C>T	c.(502-504)cCt>cTt	p.P168L		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	168	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CTGGTAATTCCTCTGCAGAGG	0.557000														29			9		0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58207445	58207445	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:58207445G>A	uc010rkh.2	-	0	202	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAGAAGTACA	0.458000														39			18		0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86090553	86090553	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:86090553G>A	uc002sqq.1	-	1	267	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ST3GAL5_uc010ysy.1_Silent_p.S46S|ST3GAL5_uc010ysz.1_Silent_p.S46S|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Silent_p.S23S	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5), transcript variant 1, mRNA.	46					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACCATTGCAGGGAAGGCCTCG	0.512000														58			23		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43360272	43360272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:43360272C>T	uc003tid.1	+	4	996	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	HECW1_uc011kbi.1_Missense_Mutation_p.R131C|HECW1_uc003tie.1_Missense_Mutation_p.R163C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	131					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTATAAAAACCGTGGAGTCAA	0.458000														19			17		0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4893552	4893552	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:4893552C>T	uc002gak.3	-	3	333	c.53G>A	c.(52-54)aGg>aAg	p.R18K	CAMTA2_uc010cku.2_5'Flank|CAMTA2_uc002gag.2_5'Flank|CAMTA2_uc002gah.2_5'Flank|CAMTA2_uc002gai.2_5'Flank|CAMTA2_uc010vsu.2_5'Flank|INCA1_uc002gam.3_Missense_Mutation_p.R18K|INCA1_uc002gaj.3_Missense_Mutation_p.R18K|INCA1_uc002gal.3_Missense_Mutation_p.R18K	NM_001167987	NP_001161459	Q0VD86	INCA1_HUMAN	Homo sapiens inhibitor of CDK, cyclin A1 interacting protein 1 (INCA1), transcript variant 2, mRNA.	18						nucleus				upper_aerodigestive_tract(1)	1						GCTGACCACCCTGGAACACCT	0.557000														10			25		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324458	24324458	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:24324458C>T	uc003xeb.3	+	5	649	c.536C>T	c.(535-537)aCt>aTt	p.T179I	ADAM7_uc003xea.1_Missense_Mutation_p.T179I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	179					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCAGAAAAACTGTTCCAGGG	0.348000														59			40		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37521635	37521635	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:37521635C>T	uc004aac.3	-	7	2259	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	FBXO10_uc004aab.3_Missense_Mutation_p.E711K|FBXO10_uc004aad.3_Missense_Mutation_p.E261K	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	711						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGGTCGTCCTCCTTCTCCAGC	0.567000														4			16		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167630771	167630771	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:167630771G>A	uc010jjd.3	+	17	3481	c.3481G>A	c.(3481-3483)Gag>Aag	p.E1161K	ODZ2_uc003lzr.4_Missense_Mutation_p.E938K|ODZ2_uc003lzt.4_Missense_Mutation_p.E534K|ODZ2_uc010jje.3_Missense_Mutation_p.E432K	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCAGGGATTCGAGCTGGACCC	0.502000														102			31		0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155291627	155291627	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:155291627C>T	uc001fkj.2	+	1	292	c.63C>T	c.(61-63)tcC>tcT	p.S21S	RUSC1-AS1_uc001fkh.1_5'Flank|RUSC1-AS1_uc001fki.3_Intron|RUSC1_uc001fkk.2_Silent_p.S21S|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	21						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			AGCACGTCTCCCTGGGCCTGC	0.617000														106			24		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526289	84526289	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:84526289C>T	uc004eeq.3	+	9	2765	c.1879C>T	c.(1879-1881)Ctg>Ttg	p.L627L	ZNF711_uc004eep.3_Silent_p.L581L|ZNF711_uc004eeo.3_Silent_p.L581L|ZNF711_uc011mqy.1_Silent_p.L180L	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	581					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCAACGCCATCTGGATTTGTT	0.418000														2			10		0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	685745	685745	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:685745C>T	uc002frw.3	+	0	233	c.127C>T	c.(127-129)Cct>Tct	p.P43S	GLOD4_uc002fru.3_5'Flank|GLOD4_uc010vqc.2_5'Flank|GLOD4_uc002frv.3_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	43					RNA processing		RNA binding|RNA methyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AGTGGTGTTTCCTTCCGGAGA	0.647000														10			19		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34092150	34092150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:34092150C>T	uc021wco.1	+	29	6600	c.5953C>T	c.(5953-5955)Ctc>Ttc	p.L1985F	CEP250_uc010zve.2_Missense_Mutation_p.L1353F	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1985	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGCATCTCCTCGAGCAGGC	0.672000														9			5		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326973	152326973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:152326973C>T	uc001ezw.4	-	2	3362	c.3289G>A	c.(3289-3291)Gga>Aga	p.G1097R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1097	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGTCTGTCCTGAATTTGAC	0.488000														399			103		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17218703	17218703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:17218703C>T	uc003wxm.3	-	3	630	c.391G>A	c.(391-393)Gat>Aat	p.D131N		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	131	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCACTAAGATCGATCAGCACC	0.453000														37			27		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274201	103274201	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:103274201C>T	uc002tca.3	+	1	610	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	156						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCGGCTATTTCATGCCCACTC	0.468000														146			93		0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153945460	153945460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:153945460G>A	uc001fdm.1	+	5	917	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	CREB3L4_uc001fdn.3_Missense_Mutation_p.V217I|CREB3L4_uc010pef.1_Missense_Mutation_p.V70I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V197I|CREB3L4_uc001fdr.2_Missense_Mutation_p.V217I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V197I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	217					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGGAGAGGGTCCTCAAGAA	0.582000														32			81		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760570	92760570	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:92760570G>A	uc003umh.1	-	4	5931	c.4715C>T	c.(4714-4716)tCc>tTc	p.S1572F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1572F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1572F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1572F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1572F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1572F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1572										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCCTTCAATGGAAAATCCTAG	0.328000														21			11		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233807022	233807022	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:233807022C>T	uc010pxo.1	+	2	925	c.757C>T	c.(757-759)Ctg>Ttg	p.L253L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	253						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)	CACAGGTTACCTGCTACTTGG	0.423000														62			17		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113304595	113304595	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:113304595A>C	uc010syl.2	+	6	756	c.394A>C	c.(394-396)Aac>Cac	p.N132H	RPH3A_uc001ttz.3_Missense_Mutation_p.N132H|RPH3A_uc001tty.3_Missense_Mutation_p.N128H|RPH3A_uc009zwe.1_Missense_Mutation_p.N128H|RPH3A_uc010sym.2_Missense_Mutation_p.N83H|RPH3A_uc001tua.3_5'Flank	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	132	RabBD.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGAGACCAACAACCGCCTGCA	0.567000														5			3		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103671	53103671	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:53103671C>T	uc003tpz.3	+	0	323	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	103										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCTGCCCTTCCCGGGGAGAC	0.726000														25			18		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183066221	183066221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:183066221G>A	uc002uos.3	-	10	1202	c.1118C>T	c.(1117-1119)tCc>tTc	p.S373F	PDE1A_uc010zfp.1_Missense_Mutation_p.S269F|PDE1A_uc002uoq.1_Missense_Mutation_p.S373F|PDE1A_uc010zfq.1_Missense_Mutation_p.S373F|PDE1A_uc002uor.3_Missense_Mutation_p.S357F|PDE1A_uc002uou.3_Missense_Mutation_p.S339F	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	373	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CAGCTTCCAGGATTTGGCTGG	0.463000														48			45		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112454	248112454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:248112454C>T	uc001idt.1	+	0	295	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGTGGGATTCAGAGTTTCTT	0.428000														286			24		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14775954	14775954	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:14775954G>A	uc003zlm.3	-	25	5506	c.4690C>T	c.(4690-4692)Caa>Taa	p.Q1564*	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Nonsense_Mutation_p.Q100*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1564					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAATTGTGTTGAAGTAGCCCT	0.562000														19			57		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121743920	121743921	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:121743920_121743921CC>TT	uc010flp.3	+	11	2053_2054	c.2023_2024CC>TT	c.(2023-2025)ccc>TTc	p.P675F	GLI2_uc002tmq.1_Missense_Mutation_p.P347F|GLI2_uc002tmr.1_Missense_Mutation_p.P330F|GLI2_uc002tmt.4_Missense_Mutation_p.P347F|GLI2_uc002tmu.4_Missense_Mutation_p.P330F|GLI2_uc002tmw.1_Missense_Mutation_p.P658F	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	675					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGGCAGTGCCCCCAACAATGAC	0.688000														42			27		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118526499	118526499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:118526499G>A	uc001ehk.2	-	41	5875	c.5807C>T	c.(5806-5808)tCt>tTt	p.S1936F	SPAG17_uc021osr.1_Missense_Mutation_p.S446F	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1936						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTGTAAAAGAAGGCAGTTT	0.308000														11			18		0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21614955	21614955	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:21614955C>T	uc001rew.3	+	8	1021	c.894C>T	c.(892-894)gtC>gtT	p.V298V	PYROXD1_uc009ziq.3_Silent_p.V39V	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	298							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TGTGGCCTGTCTATGTGGAAT	0.368000														29			7		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107029606	107029606	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:107029606G>A	uc010ywi.1	-	21	5257	c.5200C>T	c.(5200-5202)Cct>Tct	p.P1734S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1734	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTATAACAGGAAGAAGTCTC	0.448000														92			62		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50049033	50049033	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:50049033A>G	uc002xwd.3	-	8	2513	c.2293T>C	c.(2293-2295)Tat>Cat	p.Y765H	NFATC2_uc002xwc.3_Missense_Mutation_p.Y765H|NFATC2_uc010zyv.2_Missense_Mutation_p.Y546H|NFATC2_uc010zyw.2_Missense_Mutation_p.Y546H|NFATC2_uc002xwe.3_Missense_Mutation_p.Y745H|NFATC2_uc010zyx.2_Missense_Mutation_p.Y745H|NFATC2_uc010zyy.2_Missense_Mutation_p.Y546H|NFATC2_uc010zyz.2_Missense_Mutation_p.Y546H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	765					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCTGCTGATAGCCCAGCAGG	0.701000														37			17		0	0	1	0	0
ESYT1	23344	broad.mit.edu	37	12	56522221	56522221	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56522221G>A	uc001sjr.3	+	0	236	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	ESYT1_uc001sjq.3_Missense_Mutation_p.G40S	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	40						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGGTTCTGGGGGCCAACCTGC	0.697000														11			6		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842048	5842048	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5842048C>T	uc010qzp.2	+	0	483	c.483C>T	c.(481-483)ttC>ttT	p.F161F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATCCCATTCACTCTCCTCA	0.537000														78			51		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086437	100086437	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:100086437G>A	uc003uvd.1	+	3	1252	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	NYAP1_uc003uve.1_Missense_Mutation_p.E147K	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	365	Pro-rich.																CCACTCCAAGGAGCCAGCCGG	0.687000														51			25		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986346	53986346	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:53986346C>T	uc011dxa.2	+	1	231	c.198C>T	c.(196-198)ttC>ttT	p.F66F	MLIP_uc003pcf.2_Silent_p.F55F|MLIP_uc003pcg.4_Silent_p.F55F|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	55						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CCTCTAAATTCCTTGTTAAAA	0.358000														41			30		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74491024	74491024	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:74491024G>A	uc003php.3	+	16	2376	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N	CD109_uc003phq.3_Missense_Mutation_p.D649N|CD109_uc010kba.3_Missense_Mutation_p.D572N	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	649	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCACGAAGGATTATATTGA	0.294000														16			8		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74477521	74477521	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:74477521G>A	uc002sko.1	-	11	1604	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.T534T|SLC4A5_uc010ffc.1_Silent_p.T534T|SLC4A5_uc002skp.1_Silent_p.T470T|SLC4A5_uc002sks.1_Silent_p.T534T	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	534						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGATCGCGTTGGTGATACAGC	0.522000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		117			18		0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110411643	110411643	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:110411643G>A	uc003kpb.2	+	4	551	c.352_splice	c.e4-1	p.I118_splice	TSLP_uc003kpa.2_Splice_Site	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	Homo sapiens thymic stromal lymphopoietin (TSLP), transcript variant 1, mRNA.	118						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATATTCTGCAGATAAATGCTA	0.363000														22			17		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474669	140474669	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140474669G>A	uc003lil.3	+	0	433	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	99	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCTGTGCGGCCCCACAGA	0.488000														58			12		0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737766	248737766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:248737766G>A	uc001iep.1	-	0	293	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTGACGGGGAAATGGTATC	0.547000														24			48		0	0	1	0	0
IGFBP6	3489	broad.mit.edu	37	12	53495900	53495900	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:53495900G>A	uc001sbu.1	+	3	738	c.672G>A	c.(670-672)ggG>ggA	p.G224G	SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA.	224	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCCTGCCAGGGTCTCCAGATG	0.642000														35			9		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85599427	85599427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:85599427G>A	uc003hpd.3	-	65	10561	c.10153C>T	c.(10153-10155)Cga>Tga	p.R3385*	WDFY3_uc003hpc.3_Nonsense_Mutation_p.R140*	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3385						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGTTCCCATCGGTACCCTGGA	0.502000														40			31		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72758635	72758635	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:72758635A>C	uc004ahm.2	+	8	1921	c.1304A>C	c.(1303-1305)gAg>gCg	p.E435A	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	435	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATCTTTGAAGAGAACCATGTG	0.443000														25			44		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52309872	52309872	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:52309872C>G	uc001rzj.3	+	7	1384	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	ACVRL1_uc001rzk.3_Missense_Mutation_p.N367K|ACVRL1_uc010snm.2_Missense_Mutation_p.N193K	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	367	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TCGGCAACAACCCGAGAGTGG	0.612000														57			17		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498667	31498667	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:31498667G>A	uc002ecf.4	+	5	620	c.601G>A	c.(601-603)Gac>Aac	p.D201N	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	201					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GATGTACACGGACACGGTACA	0.637000														199			113		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39581304	39581304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:39581304G>A	uc003xni.3	+	18	2110	c.2055G>A	c.(2053-2055)tgG>tgA	p.W685*	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Nonsense_Mutation_p.W661*	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	685					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATACACACTGGAACAACTGGT	0.294000														38			23		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222794551	222794551	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:222794551C>T	uc001hnl.3	+	1	193	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	62	SH3.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCCGGATTGTCGTTTTGTGAA	0.388000														42			9		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22951111	22951111	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:22951111G>A	uc021urt.1	-	2	377	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATACCTGGGGGTTTAGTTA	0.433000														16			7		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	30071464	30071464	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:30071464G>C	uc001usl.4	+	10	3757	c.3699G>C	c.(3697-3699)gaG>gaC	p.E1233D	MTUS2_uc001usm.4_Missense_Mutation_p.E202D|MTUS2_uc010aau.3_Missense_Mutation_p.E112D|MTUS2_uc010tdq.2_5'UTR	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1223						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACACAGAGGAGCAGCTGGAGG	0.622000														9			13		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50336869	50336869	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:50336869G>A	uc001zxu.3	-	4	364	c.222C>T	c.(220-222)tcC>tcT	p.S74S	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	74					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S73F(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCAGGTCAAGGAGGAAATTT	0.363000														21			15		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99968038	99968038	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:99968038T>A	uc001kox.4	+	4	517	c.167T>A	c.(166-168)cTc>cAc	p.L56H	C10orf28_uc001kow.4_Missense_Mutation_p.L56H|C10orf28_uc001koy.4_Missense_Mutation_p.L56H|C10orf28_uc009xvx.3_Missense_Mutation_p.L56H|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	56							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		GAAAGTTCTCTCTCCCAAAAA	0.393000														19			36		0	0	1	0	0
SH2D4A	63898	broad.mit.edu	37	8	19221777	19221777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:19221777C>T	uc003wzc.3	+	6	1209	c.901C>T	c.(901-903)Cct>Tct	p.P301S	SH2D4A_uc003wzb.3_Missense_Mutation_p.P301S|SH2D4A_uc011kym.2_Missense_Mutation_p.P256S	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	301						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AGGGGCATATCCTCAAAAACC	0.473000														32			18		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180049771	180049771	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:180049771C>T	uc003mlz.4	-	11	1696	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	FLT4_uc003mma.4_Silent_p.K539K|FLT4_uc003mmb.1_Silent_p.K72K|FLT4_uc011dgy.2_Silent_p.K539K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	539	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGGCCCACCTTGTTGGAGA	0.577000														29			14		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711441	152711441	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:152711441G>A	uc021zhb.1	-	50	8374	c.8151C>T	c.(8149-8151)atC>atT	p.I2717I	SYNE1_uc003qot.4_Silent_p.I2724I|SYNE1_uc003qou.4_Silent_p.I2717I|SYNE1_uc010kjb.1_Silent_p.I2700I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2717					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGAGCTCATGATGTCAGCCC	0.458000										HNSCC(10;0.0054)				35			17		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19319035	19319035	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:19319035G>A	uc002zpf.1	-	24	3202	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	HIRA_uc011agx.1_Missense_Mutation_p.R831W|HIRA_uc010grn.1_Silent_p.I787I|HIRA_uc010gro.2_Silent_p.I950I	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	994	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGTTCTGCCCGATGACTGGTA	0.587000														66			14		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770294	38770294	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:38770294G>A	uc003ciq.3	-	14	2379	c.2379C>T	c.(2377-2379)atC>atT	p.I793I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	793					sensory perception	voltage-gated sodium channel complex		p.I792V(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGATGGCCAGGATGATGGTGA	0.512000														34			33		0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214933	161214933	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:161214933G>A	uc011bpb.2	+	0	338	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	113						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGGCAGAAAGGAGAACCTGGA	0.443000														49			37		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	858803	858803	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:858803C>T	uc002wei.3	-	7	1323	c.1220_splice	c.e7+1	p.R407_splice	ANGPT4_uc010zpn.2_Splice_Site_p.R401_splice	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	407	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCCGAACCCACCTGTATAGCT	0.622000														22			8		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181326	18181326	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:18181326G>A	uc002gsx.1	-	17	2719	c.2490C>T	c.(2488-2490)aaC>aaT	p.N830N	TOP3A_uc010cpz.1_Silent_p.N282N|TOP3A_uc010vxr.1_Silent_p.N360N|TOP3A_uc002gsw.1_Silent_p.N282N|TOP3A_uc010vxs.1_Silent_p.N728N	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	830	2 X 27 AA approximate repeats.				DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCGGCCCCGGTTGGGGCCCT	0.617000														17			48		0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52339121	52339121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:52339121C>T	uc002abp.3	+	1	1258	c.464C>T	c.(463-465)cCa>cTa	p.P155L		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	155	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GATCTCAAACCAGCTAATCTT	0.438000														35			32		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541742	96541742	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:96541742C>T	uc010qnz.2	+	4	807	c.807C>T	c.(805-807)atC>atT	p.I269I	CYP2C19_uc009xus.1_Silent_p.I134I|CYP2C19_uc010qny.2_Silent_p.I247I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	269					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.L268L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCTTCCTGATCAAAATGGAGA	0.353000														23			30		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2944702	2944702	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:2944702C>T	uc022aqr.1	-	48	7781	c.7391G>A	c.(7390-7392)cGa>cAa	p.R2464Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R1794Q|CSMD1_uc010lrg.3_Missense_Mutation_p.R533Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2465	Sushi 14.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCGACCATTCGGTATCCAGG	0.517000														40			21		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43351512	43351512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:43351512G>A	uc003tid.1	+	3	783	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HECW1_uc011kbi.1_Missense_Mutation_p.G60S|HECW1_uc003tie.1_Missense_Mutation_p.G92S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	60					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCCCACGATGGCGTCACCAT	0.632000														49			30		0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	45004265	45004265	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:45004265C>T	uc002ozf.4	-	0	310	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	ZNF180_uc002ozh.4_Intron|ZNF180_uc002ozi.4_Intron|ZNF180_uc002ozg.4_Missense_Mutation_p.G7E|ZNF180_uc010ejm.3_Missense_Mutation_p.E10K	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTTCCAGCTTCCCGCGTAGAC	0.667000											OREG0025537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		163			57		0	0	1	0	0
DBNDD1	79007	broad.mit.edu	37	16	90076441	90076441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:90076441C>T	uc002fqe.1	-	0	89	c.15G>A	c.(13-15)tgG>tgA	p.W5*	DBNDD1_uc002fqf.1_Intron|DBNDD1_uc002fqg.1_Intron	NM_024043	NP_076948	Q9H9R9	DBND1_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 1 (DBNDD1), transcript variant 2, mRNA.	0						cytoplasm				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)		AAATATTCTTCCAGGTTTCTC	0.468000														42			21		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64176286	64176286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:64176286G>A	uc002scq.3	-	7	1185	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	VPS54_uc002scp.3_Missense_Mutation_p.S329L|VPS54_uc010fct.3_Missense_Mutation_p.S224L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	341					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						ACAAAGCTGTGATCCCAAATG	0.313000														5			6		0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10583845	10583845	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:10583845G>A	uc010exg.1	-	5	1001	c.567C>T	c.(565-567)atC>atT	p.I189I	ODC1_uc002rao.1_Silent_p.I189I|ODC1_uc010yjd.1_Silent_p.I59I	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	189					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CAACAACATCGATATTTAGCT	0.453000														80			25		0	0	1	0	0
CLPP	8192	broad.mit.edu	37	19	6368633	6368633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:6368633C>T	uc002mem.1	+	5	869	c.746C>T	c.(745-747)cCc>cTc	p.P249L		NM_006012	NP_006003	Q16740	CLPP_HUMAN	Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.	249					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|ovary(2)	6						GTCCACCCTCCCCAGGACGGT	0.632000														6			4		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694442	6694443	+	Splice_Site	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:6694442_6694443CC>TT	uc002mfm.3	-	24	3216	c.3154_splice	c.e24+1	p.G1052_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1052					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGGAGCCCACCCTTCTTGATGA	0.624000														35			12		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560340	59560340	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:59560340C>T	uc010ddo.3	+	8	1267	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	TBX4_uc002izi.3_Silent_p.F367F|TBX4_uc010woy.2_Silent_p.F368F	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	367					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCACTATTTCCGTTCCCCCC	0.567000														21			14		0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35719060	35719060	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:35719060G>A	uc002nyk.1	-	0	569	c.524C>T	c.(523-525)gCc>gTc	p.A175V		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	175						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCAGGGCATGGCTTCCTCCAG	0.622000														68			23		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663306	34663306	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:34663306G>A	uc001bxt.3	+	1	1639	c.801G>A	c.(799-801)aaG>aaA	p.K267K	C1orf94_uc001bxs.4_Silent_p.K77K	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	77							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGGTCACCAAGGACTTCCTAC	0.572000														60			14		0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83728787	83728787	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:83728787G>A	uc003pjp.2	-	7	1023	c.915C>T	c.(913-915)ttC>ttT	p.F305F	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjq.3_Silent_p.F95F	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	305						cytoplasm	ligase activity										CCAACAAGGGGAATTTTTTGA	0.378000														36			40		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522574	96522574	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:96522574G>A	uc010qnz.2	+	0	112	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	38					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCCTCTCCCAGTGATTGGAAA	0.443000														52			5		0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124999	71124999	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:71124999G>A	uc002ass.3	-	2	939	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	290					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						ATACCAATCAGGACAGCTTTC	0.502000														47			16		0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55668486	55668486	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:55668486G>A	uc002qjg.4	-	2	40	c.40C>T	c.(40-42)Cct>Tct	p.P14S	TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	14					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCTGGTGCAGGGCGAGGTTCC	0.667000														5			4		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	33020712	33020712	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:33020712C>T	uc021thd.1	+	0		c.60C>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		TGAGACTGTCCTGTCCAGCCT	0.577000														129			86		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137125	40137125	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:40137125G>A	uc021qgf.1	-	0	718	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.Q236*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.Q236*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.Q240*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.Q236*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	240					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCAAACCCTGGAAAGAGCCA	0.458000														45			34		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89202745	89202745	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:89202745G>A	uc021ryf.1	-	6	1261	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	EML5_uc021ryg.1_Missense_Mutation_p.P338S	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	338						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAGCCAAAGGTTTAGTAGGA	0.368000														30			95		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049684	107049684	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:107049684C>T	uc010ywi.1	-	15	2320	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	755					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTATAGTTTTCGAGTTCCTGC	0.368000														270			71		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26927934	26927934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:26927934C>T	uc001uqr.1	+	3	396	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	CDK8_uc001uqs.1_Missense_Mutation_p.R125W|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	125	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.R125L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TCAGTTACCTCGGGGAATGGT	0.373000														9			15		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56094848	56094848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56094848C>T	uc001shh.3	-	3	725	c.505G>A	c.(505-507)Gac>Aac	p.D169N	ITGA7_uc001shg.3_Missense_Mutation_p.D169N|ITGA7_uc010sps.2_Missense_Mutation_p.D72N|ITGA7_uc009znx.3_Missense_Mutation_p.D56N	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	169					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCCAGGTCCTGGCTGAGC	0.597000														25			19		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140827	143140827	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:143140827G>A	uc011ktg.2	+	0	282	c.282G>A	c.(280-282)caG>caA	p.Q94Q	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	94					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTGTACTGCAGTTTCTAGCTT	0.498000														78			48		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029313	32029314	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:32029313_32029314CC>TT	uc003nzl.2	-	20	7554_7555	c.7352_7353GG>AA	c.(7351-7353)cgg>cAA	p.R2451Q		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2511					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACCTGGGGCCGCCCGTCCCT	0.663000														63			30		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235257	3235257	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:3235257C>T	uc004crg.4	-	5	6622	c.6465G>A	c.(6463-6465)agG>agA	p.R2155R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2155	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGACGTCCGTCCTCCGCGGGG	0.701000														6			18		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119933	55119933	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:55119933G>A	uc003pcl.3	+	3	718	c.403_splice	c.e3-1	p.T135_splice	HCRTR2_uc010jzv.3_Splice_Site|HCRTR2_uc010jzw.1_Splice_Site_p.T70_splice	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	135					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTTTCTCTAGACCGTGTCGG	0.403000														16			32		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55863771	55863771	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:55863771G>A	uc003tqz.2	-	9	1251	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	378					cell cycle|cell division	septin complex	GTP binding|protein binding	p.F378F(2)|p.F167F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAAGATGCTCGAACTTGTCCT	0.378000														19			7		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86261363	86261364	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:86261363_86261364GT>AA	uc002blv.1	+	21	6144_6145	c.5974_5975GT>AA	c.(5974-5976)gtg>AAg	p.V1992K	AKAP13_uc002blu.1_Missense_Mutation_p.V1996K|AKAP13_uc010bnf.1_Missense_Mutation_p.V613K|AKAP13_uc002blw.1_Missense_Mutation_p.V457K|AKAP13_uc002blx.1_Missense_Mutation_p.V237K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1992	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAGAAAGATGTGGTCAAACGG	0.381000														46			10		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120465314	120465314	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:120465314G>A	uc001eik.3	-	26	5244	c.4947C>T	c.(4945-4947)ctC>ctT	p.L1649L		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1649	Negative regulatory region (NRR).				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)		GAGAGGCCAGGAGAGCTGCTG	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					159			31		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016290	22016290	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:22016290G>A	uc010tzk.1	-	0	589	c.427C>T	c.(427-429)Cca>Tca	p.P143S						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		TACTGTAATGGAAGTGAACCT	0.358000														30			4		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46916415	46916415	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:46916415G>A	uc002zhi.3	+	29	3070	c.3049_splice	c.e29-1	p.G1017_splice	COL18A1_uc002zhg.3_Splice_Site_p.G837_splice	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1252	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCCCACAGGGAATGCCCGGC	0.597000														64			41		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31266526	31266526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:31266526C>T	uc002hhq.3	+	6	903	c.445C>T	c.(445-447)Ccg>Tcg	p.P149S	TMEM98_uc002hhr.3_Missense_Mutation_p.P149S	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	149						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GATGTACCCTCCGTTGGACCC	0.493000														31			17		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32134683	32134683	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:32134683C>T	uc001rks.3	+	3	1208	c.794C>T	c.(793-795)cCa>cTa	p.P265L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	265								p.P265P(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TCAGCTGTACCATCACAGCAG	0.393000														56			11		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	209027999	209027999	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:209027999C>T	uc002vcq.4	-	1	198	c.181G>A	c.(181-183)Ggc>Agc	p.G61S	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	61	Beta/gamma crystallin 'Greek key' 2.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGGTACTTGCCTCGGCGCAGG	0.557000														46			31		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83333685	83333685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:83333685C>T	uc010uoi.2	-	17	2216	c.2039G>A	c.(2038-2040)tGg>tAg	p.W680*	AP3B2_uc010uoh.2_Nonsense_Mutation_p.W661*|AP3B2_uc010uoj.2_Nonsense_Mutation_p.W629*|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Nonsense_Mutation_p.W297*|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	661	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACTTGGTCCATTCAGGTAC	0.547000														6			4		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851562	43851562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:43851562C>T	uc010ggz.3	+	1	1346	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	SEMG2_uc002xnk.3_Missense_Mutation_p.S430F|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	430	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAAGGTGTATCCAAAGGCAGT	0.383000														67			34		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6335388	6335388	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:6335388C>T	uc003gja.3	-	6	885	c.861G>A	c.(859-861)gtG>gtA	p.V287V	PPP2R2C_uc003gjb.3_Silent_p.V270V|PPP2R2C_uc003gjc.3_Silent_p.V287V|PPP2R2C_uc011bwd.2_Silent_p.V280V|PPP2R2C_uc011bwe.2_Silent_p.V280V|PPP2R2C_uc003gjd.1_Silent_p.V375V	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	287					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GGCTGAACTTCACGTCGGACA	0.557000											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			50		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618904	129618904	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:129618904C>T	uc021zfb.1	+	20	3036	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F	LAMA2_uc003qbn.3_Silent_p.F977F|LAMA2_uc003qbo.3_Silent_p.F977F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	977	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTAAGTCATTCGACTGTGAAG	0.502000														19			24		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132269998	132269998	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:132269998G>A	uc003kyd.3	-	2	1167	c.759C>T	c.(757-759)ccC>ccT	p.P253P	AFF4_uc011cxk.2_5'UTR|AFF4_uc003kye.1_Silent_p.P253P|AFF4_uc003kyf.4_Silent_p.P253P	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	253	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATAGGCAGTGGGTTTCTGTA	0.512000														54			19		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50918051	50918051	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:50918051C>T	uc002lfe.2	+	16	3098	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S	DCC_uc010xdr.1_Intron|DCC_uc010dpf.2_Intron	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	828					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGATTATTATCCTTTGCTTGA	0.428000														82			13		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11362811	11362811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:11362811G>A	uc002mqs.4	-	4	532	c.491C>T	c.(490-492)tCc>tTc	p.S164F		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	164					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTCAGGGCCGGACCTCTCGTC	0.617000														5			5		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990398	63990398	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:63990398G>A	uc003peh.3	-	3	1092	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	353					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCTGAGCGCAGCAGAGTGCTT	0.502000														73			38		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179437688	179437688	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:179437688G>A	uc001gmo.3	+	16	2296	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	AXDND1_uc001gmn.2_3'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E595K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	637										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGAAATAGATGAAAAAATTAA	0.353000														21			37		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224583	3224583	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:3224583G>A	uc022aqr.1	-	19	3476	c.3086C>T	c.(3085-3087)tCg>tTg	p.S1029L	CSMD1_uc011kwj.2_Missense_Mutation_p.S422L|CSMD1_uc003wqe.3_Missense_Mutation_p.S186L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1030	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCCTCGTACGAAATTGAGAA	0.468000														17			10		0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8887305	8887305	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:8887305C>T	uc003wsk.2	+	6	1071	c.811C>T	c.(811-813)Cct>Tct	p.P271S		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	271	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	TTTTCAGGTTCCTAGAAGCCA	0.353000														32			20		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66350257	66350257	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:66350257T>C	uc021xzk.1	+	4	1008	c.700T>C	c.(700-702)Tta>Cta	p.L234L	MAST4_uc003jus.3_Silent_p.L45L|MAST4_uc003jut.2_Silent_p.L45L|MAST4_uc003juu.1_Silent_p.L52L|MAST4_uc011cra.1_Silent_p.L25L|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Silent_p.L40L|MAST4_uc003juw.3_Silent_p.L40L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	234						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCGGAAAAGCTTAATAGGCAA	0.393000														7			4		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626066	102626066	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:102626066G>C	uc002tbm.3	+	2	339	c.110G>C	c.(109-111)cGg>cCg	p.R37P	IL1R2_uc002tbn.3_Missense_Mutation_p.R37P|IL1R2_uc002tbo.1_Missense_Mutation_p.R37P	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	37	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.R37L(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CATTACAAGCGGGAGTTCAGG	0.592000														137			77		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27001622	27001622	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:27001622C>T	uc010crt.3	+	4	528	c.336C>T	c.(334-336)gtC>gtT	p.V112V	SUPT6H_uc002hby.3_Silent_p.V112V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	112	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTGTCAAAGTCAAAAGAGGAG	0.468000														46			30		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22758839	22758839	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:22758839G>A	uc021wml.1	+	61		c.6629G>A								Parts of antibodies, mostly variable regions.																		AAGCAGCTCCGACATGGGGAA	0.572000														79			37		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134908	128134908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:128134908C>T	uc011ebt.2	-	3	1027	c.878G>A	c.(877-879)gGa>gAa	p.G293E	THEMIS_uc010kfa.3_Missense_Mutation_p.G196E|THEMIS_uc021zfa.1_Missense_Mutation_p.G293E|THEMIS_uc010kfb.3_Missense_Mutation_p.G258E	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	293	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGGTGGTTTCCTTCAGGTGC	0.403000														90			28		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558185	140558185	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140558185G>A	uc011dai.2	+	0	815	c.570G>A	c.(568-570)agG>agA	p.R190R	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	190	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGATGGCAGGAAATACCCAG	0.502000														70			6		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64791923	64791923	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:64791923C>T	uc002ann.3	+	0	305	c.305C>T	c.(304-306)cCc>cTc	p.P102L	ZNF609_uc010bgy.3_Missense_Mutation_p.P102L	NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	102						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTAGCAAACCCACTCCAGGG	0.537000														41			17		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139838840	139838840	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:139838840T>C	uc003lfs.2	+	8	1726	c.1572T>C	c.(1570-1572)ctT>ctC	p.L524L	ANKHD1-EIF4EBP3_uc003lfq.2_Silent_p.L524L|ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.L524L|ANKHD1-EIF4EBP3_uc003lft.1_5'UTR|ANKHD1-EIF4EBP3_uc003lfu.1_5'UTR|ANKHD1-EIF4EBP3_uc003lfo.3_Silent_p.L524L|ANKHD1-EIF4EBP3_uc003lfp.3_Silent_p.L513L|ANKHD1-EIF4EBP3_uc010jfk.3_Silent_p.L524L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	524						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACTTTCTTATTAAGGCAG	0.448000														36			18		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747058	10747058	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:10747058C>T	uc002mpf.3	+	14	1432	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	SLC44A2_uc002mpe.4_Silent_p.F429F|SLC44A2_uc002mpg.1_Silent_p.F151F|SLC44A2_uc002mph.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	431					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	AGTTCGCCTTCTACGGTGGTG	0.607000														48			45		0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403841	28403841	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:28403841C>T	uc003nli.4	-	1	384	c.203G>A	c.(202-204)aGa>aAa	p.R68K	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.R68K	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	68	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						CTCCTGGAGTCTTTGAAGAGC	0.557000														49			21		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044767	20044767	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:20044767C>T	uc002non.3	+	3	1179	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	335						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TAAGAGAATTCATACTGGAGA	0.373000														28			14		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584383	88584383	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:88584383G>A	uc003hqv.3	+	5	1557	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	DMP1_uc003hqw.3_Missense_Mutation_p.E469K	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	485					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAAAAACATTGAGATAGAGAG	0.463000														65			114		0	0	1	0	0
LOC283693	283693	broad.mit.edu	37	15	83395821	83395821	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:83395821G>A	uc002bjb.3	-	2	481	c.12C>T	c.(10-12)atC>atT	p.I4I						Homo sapiens actin, gamma pseudogene (LOC283693), non-coding RNA.																		CCCCAAACATGATCTGAATCA	0.592000														5			8		0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332361	50332361	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:50332361G>A	uc021wyn.1	-	1	759	c.673C>T	c.(673-675)Ctt>Ttt	p.L225F	HYAL3_uc003cze.2_Intron|HYAL3_uc003czf.2_Intron|HYAL3_uc003czd.2_Missense_Mutation_p.L225F|HYAL3_uc003czg.2_Missense_Mutation_p.L225F	NM_001200029	NP_001186958	O43820	HYAL3_HUMAN	Homo sapiens hyaluronoglucosaminidase 3 (HYAL3), transcript variant 5, mRNA.	225					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTGCGGGCAAGGGTGGCTGCA	0.632000														56			38		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53282826	53282826	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:53282826C>T	uc001vhf.2	-	5	745	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	LECT1_uc001vhg.2_Missense_Mutation_p.E212K|LECT1_uc001vhh.2_Missense_Mutation_p.E201K	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	212					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TCTCTTCTTTCCCTCTGGATT	0.368000														54			26		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936114	30936114	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:30936114G>A	uc002nsu.1	+	1	1783	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ZNF536_uc010edd.1_Missense_Mutation_p.E549K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGCAACCACGAAGACACTTT	0.552000														70			48		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131218612	131218612	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:131218612C>T	uc004ewn.3	-	8	824	c.646_splice	c.e8-1	p.G216_splice	FRMD7_uc022cdy.1_Splice_Site_p.G96_splice|FRMD7_uc011muy.2_Splice_Site_p.G201_splice	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	216	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTTTGTATTTCCCTACAATGA	0.358000														4			21		0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88423533	88423533	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:88423533C>T	uc003ujv.3	-	1	906	c.724G>A	c.(724-726)Gat>Aat	p.D242N	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.D242N	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	242										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACCTCAGAATCCAGAGTGATG	0.403000														19			7		0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24730521	24730521	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:24730521C>T	uc002zzw.3	+	8	2843	c.2540C>T	c.(2539-2541)tCc>tTc	p.S847F	SPECC1L_uc002zzv.4_Missense_Mutation_p.S847F|SPECC1L_uc011ajq.2_Missense_Mutation_p.S847F|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	847					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CTCATCAAGTCCTTTGACAGT	0.443000														61			58		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446917	29446917	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:29446917C>T	uc003aeg.3	+	7	2748	c.2748C>T	c.(2746-2748)acC>acT	p.T916T	ZNRF3_uc021wnq.1_Silent_p.T816T	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	916						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						AGTCCAGCACCACTGCCACTG	0.597000														6			14		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329477	56329477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:56329477C>T	uc010ygf.2	-	3	775	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	22	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCTGAAATTCCTTGTCACTG	0.433000														30			11		0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757402	74757402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:74757402C>T	uc002smi.1	+	0	871	c.269C>T	c.(268-270)aCc>aTc	p.T90I	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Missense_Mutation_p.T90I|HTRA2_uc002smk.1_Missense_Mutation_p.T90I|HTRA2_uc002sml.1_Missense_Mutation_p.T90I|HTRA2_uc010ffl.3_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ACCCCAGATACCAGGACCCGG	0.687000														12			7		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117176665	117176665	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:117176665C>T	uc003vjd.3	+	6	939	c.807C>T	c.(805-807)atC>atT	p.I269I	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	269	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGAAAATATCCAATCTGTTA	0.318000									Cystic Fibrosis					8			8		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57972099	57972099	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:57972099G>A	uc001sor.1	+	22	2720	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	KIF5A_uc010srr.1_Missense_Mutation_p.E749K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	838					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAACAACCTGGAACAGCTTAC	0.473000														43			31		0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97250670	97250671	+	Missense_Mutation	DNP	CC	TT	TT	rs142842336	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:97250670_97250671CC>TT	uc001drq.3	+	7	1010_1011	c.764_765CC>TT	c.(763-765)tcc>tTT	p.S255F	PTBP2_uc001drn.2_Missense_Mutation_p.S255F|PTBP2_uc001dro.2_Missense_Mutation_p.S255F|PTBP2_uc010otz.1_Missense_Mutation_p.S266F|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Missense_Mutation_p.S203F|PTBP2_uc001drr.3_Missense_Mutation_p.S255F|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.3_5'UTR	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	255	RRM 2.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATTGATTTTTCCAAACTTGTGA	0.361000														14			41		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123338711	123338711	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:123338711C>T	uc001udj.1	+	7	758	c.699C>T	c.(697-699)ctC>ctT	p.L233L	HIP1R_uc001udg.1_Silent_p.L221L|HIP1R_uc001udi.1_Silent_p.L233L	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	233					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CGGTCAAGCTCCTGTTCAAGC	0.562000														54			52		0	0	1	0	0
LCE2C	353140	broad.mit.edu	37	1	152648614	152648614	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:152648614C>T	uc021ozc.1	+	0	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F	LCE2C_uc001fah.3_Silent_p.F41F	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	41	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCATGTTTCCCTGCAGTCT	0.627000														198			36		0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528639	27528639	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:27528639G>A	uc003xga.1	+	5	1733	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	SCARA3_uc003xgb.1_Intron	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	531					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity	p.T530T(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TTTGGAACTGGAGGGCCGAGA	0.682000														10			4		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15374358	15374358	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:15374358A>T	uc003nbj.3	+	1	300	c.56A>T	c.(55-57)gAt>gTt	p.D19V	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.2_5'UTR	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	19					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GATGACAGTGATGGGATTCCG	0.398000														148			26		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100083	3100083	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:3100083C>T	uc002cth.3	+	2	543	c.306C>T	c.(304-306)gtC>gtT	p.V102V	MMP25_uc002cti.1_Silent_p.V38V	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	102					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGGGGCTGGTCAGGCGGCGTC	0.706000														93			56		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173355	126173355	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:126173355G>T	uc003vlr.2	-	7	2392	c.2081C>A	c.(2080-2082)tCt>tAt	p.S694Y	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S694Y|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	694					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACCAGCTGAGATGCTGGACT	0.498000										HNSCC(24;0.065)				26			37		2.19489e-29	2.22774e-29	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78474052	78474052	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:78474052G>A	uc001vkp.1	-	6	1559	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	EDNRB_uc001vkq.1_Missense_Mutation_p.S379F|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Missense_Mutation_p.S379F|EDNRB_uc010aez.1_Missense_Mutation_p.S379F	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	379					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GTTAATGCAGGAATTCAGTGA	0.348000														51			7		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378856	114378856	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:114378856C>T	uc003pwg.4	-	1	638	c.606G>A	c.(604-606)agG>agA	p.R202R	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.R202R	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	202					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTTTGTTCTTCCTCTCCTTCC	0.403000														163			65		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26400815	26400815	+	Missense_Mutation	SNP	G	A	A	rs114090829	by1000genomes	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:26400815G>A	uc003abz.1	+	41	6714	c.6464G>A	c.(6463-6465)aGc>aAc	p.S2155N	MYO18B_uc003aca.1_Missense_Mutation_p.S2036N|MYO18B_uc010guy.1_Missense_Mutation_p.S2037N|MYO18B_uc010guz.1_Missense_Mutation_p.S2035N|MYO18B_uc011aka.1_Missense_Mutation_p.S1309N|MYO18B_uc011akb.1_Missense_Mutation_p.S1668N|MYO18B_uc010gva.1_Missense_Mutation_p.S138N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2155						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGCATCCTCAGCCCCAGGTAA	0.517000														64			42		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196973818	196973818	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:196973818C>T	uc001gts.4	+	8	1486	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	453	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGGCCCCCTCCATCTATTAAC	0.398000														116			23		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020458	69020458	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:69020458G>A	uc003xxv.1	+	23	2857	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	PREX2_uc011lez.1_Missense_Mutation_p.E879K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	944					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAATGTGATGGAAGTTTCTTA	0.418000														30			17		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15815413	15815413	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:15815413C>T	uc002ddx.3	-	32	4572	c.4465G>A	c.(4465-4467)Gaa>Aaa	p.E1489K	MYH11_uc002ddv.3_Missense_Mutation_p.E1489K|MYH11_uc002ddw.3_Missense_Mutation_p.E1482K|MYH11_uc002ddy.3_Missense_Mutation_p.E1482K|MYH11_uc010bvg.3_Missense_Mutation_p.E1314K|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E188K|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1482					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCTTGGTTTCCTTCTCCCTG	0.532000			T	CBFB	AML									56			43		0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567046	45567046	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:45567046A>G	uc001rom.2	-	2	1640	c.1103T>C	c.(1102-1104)aTt>aCt	p.I368T						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCATCCCAATACTGAAAGC	0.498000														50			18		0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	68987559	68987559	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:68987559C>T	uc002arj.4	+	2	591	c.297C>T	c.(295-297)atC>atT	p.I99I	CORO2B_uc021spj.1_Silent_p.I94I|CORO2B_uc010bic.3_Silent_p.I94I	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	99					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACCCCTTCATCGACAACATCA	0.597000														50			14		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28862219	28862219	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:28862219C>T	uc001urz.3	+	17	2635	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	PAN3_uc001ury.3_Missense_Mutation_p.P516L|PAN3_uc001urx.3_Missense_Mutation_p.P628L	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	828	Interaction with PAN2.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	p.P628L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCAGGTGCTCCCTGGATTGAC	0.373000														27			25		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775351	47775351	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:47775351C>G	uc022bvq.1	+	4	1555	c.1306C>G	c.(1306-1308)Cat>Gat	p.H436D	ZNF81_uc010nhy.2_Missense_Mutation_p.H436D	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	436						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAGAGAATTCATACAGGAGA	0.433000														4			22		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49707048	49707048	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:49707048G>A	uc003jom.3	-	2	615	c.366C>T	c.(364-366)acC>acT	p.T122T	EMB_uc003jol.3_Silent_p.T53T|EMB_uc011cpy.2_Silent_p.T72T	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	122	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GGGTATACAAGGTGCTTCCTG	0.363000														30			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179666924	179666924	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179666924G>A	uc021vsy.1	-	2	461	c.236C>T	c.(235-237)tCc>tTc	p.S79F	TTN_uc021vsz.1_Missense_Mutation_p.S79F|TTN_uc021vta.1_Missense_Mutation_p.S79F|TTN_uc021vtb.1_Missense_Mutation_p.S79F|TTN_uc002unb.2_Missense_Mutation_p.S79F|TTN_uc002und.3_Missense_Mutation_p.S79F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	79	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTTCAGGGAATATCGTCC	0.562000														84			45		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19926050	19926050	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:19926050G>A	uc003cbl.4	-	10	2187	c.1991C>T	c.(1990-1992)aCt>aTt	p.T664I	EFHB_uc003cbm.3_Missense_Mutation_p.T534I	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	664					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TATGAGGAGAGTTTGTTCAGG	0.368000														48			17		0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30997780	30997780	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30997780G>A	uc002eaf.2	+	3	465	c.359G>A	c.(358-360)gGa>gAa	p.G120E	HSD3B7_uc010cac.2_Missense_Mutation_p.G120E|HSD3B7_uc002eag.2_Missense_Mutation_p.G120E|HSD3B7_uc002eah.2_Missense_Mutation_p.G120E	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	120					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGCAGACCGGAACACGGTTC	0.577000														43			28		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872770	55872770	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:55872770G>A	uc010riy.2	+	0	252	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAACCTTAGCGAACTTACTGA	0.438000										HNSCC(53;0.14)				344			72		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790998	110790998	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:110790998C>T	uc003hzx.4	+	2	1151	c.958C>T	c.(958-960)Cct>Tct	p.P320S	LRIT3_uc003hzw.4_Missense_Mutation_p.P182S	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	320						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGGAGATCATCCTGAGTGGGA	0.473000														130			30		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997451	66997451	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:66997451G>A	uc002eqt.3	+	2	424	c.345G>A	c.(343-345)caG>caA	p.Q115Q	CES3_uc010cdz.3_Silent_p.Q115Q	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	115						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		ACGGAAAACAGCAGATCTTCT	0.607000														50			21		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558433	228558433	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:228558433C>T	uc009xez.1	+	92	20264	c.20220C>T	c.(20218-20220)ttC>ttT	p.F6740F	OBSCN_uc001hsr.1_Silent_p.F1369F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6740					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCAAGTTCCTCCTGGCCC	0.632000														117			23		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080848	5080848	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5080848G>A	uc010qyw.2	-	0	10	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGTCATTGGGAAGGAACATC	0.498000														36			27		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645264	167645264	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:167645264C>T	uc010jjd.3	+	22	4341	c.4341C>T	c.(4339-4341)tgC>tgT	p.C1447C	ODZ2_uc003lzr.4_Silent_p.C1217C|ODZ2_uc003lzt.4_Silent_p.C820C|ODZ2_uc010jje.3_Silent_p.C711C	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCATGCACTGCCAAGTTCCTG	0.507000														150			80		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	209025690	209025690	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:209025690G>A	uc002vcq.4	-	2	380	c.363C>T	c.(361-363)atC>atT	p.I121I	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	121	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGAGGGAATAGATCTCAGGGA	0.552000														70			42		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664211	169664211	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:169664211C>T	uc011bpp.2	-	1		c.3592G>A								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		GATCTCCTGCCACAAAGGCCT	0.512000														40			26		0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91552184	91552184	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:91552184C>T	uc001tbt.3	-	3	681	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.E143K	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	143					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCTGGCAATTCCTTCAGCTGA	0.403000														56			26		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835496	102835496	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:102835496G>A	uc002tbs.3	+	6	934	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	IL1RL2_uc002tbt.3_Missense_Mutation_p.V152M	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	270	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TAACACTTTGGTGGATGATTA	0.388000														48			33		0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461252	11461252	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:11461252C>T	uc001qzf.1	-	2	699	c.665G>A	c.(664-666)gGa>gAa	p.G222E	PRB4_uc001qzt.3_Missense_Mutation_p.G222E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	285	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGGGCTTTCCAGCAGGAGG	0.627000										HNSCC(22;0.051)				100			105		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202404	56202405	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:56202404_56202405GG>AA	uc002lhj.4	-	4	5228_5229	c.5014_5015CC>TT	c.(5014-5016)cca>TTa	p.P1672L	ALPK2_uc002lhk.1_Missense_Mutation_p.P1003L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1672							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTTGACATGGATCCTGCAGT	0.535000														60			29		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154189432	154189432	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:154189432C>T	uc004fmt.3	-	9	1626	c.1455G>A	c.(1453-1455)aaG>aaA	p.K485K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	485	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGCTTGATTCTTAAATATAA	0.358000														1			9		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453717	84453717	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:84453717G>A	uc001vlk.3	-	0	2812	c.1926C>T	c.(1924-1926)atC>atT	p.I642I		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	642						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTTCCTCAGGATAAACACGA	0.562000														31			19		0	0	1	0	0
C3orf19	51244	broad.mit.edu	37	3	14712622	14712622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:14712622C>T	uc003byw.3	+	10	1416	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	C3orf19_uc010hej.3_Missense_Mutation_p.P271L	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA.	442										endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	14						ACTCCTGCCCCCGACAACCCA	0.542000														45			27		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871684	51871684	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:51871684C>T	uc002xwo.3	+	1	2574	c.1687C>T	c.(1687-1689)Cag>Tag	p.Q563*	TSHZ2_uc021wex.1_Nonsense_Mutation_p.Q560*	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	563				Q -> R (in Ref. 1; BAC03610).	multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TATGGGATCCCAGGTACTGCA	0.597000														95			38		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107580511	107580511	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:107580511G>A	uc003vev.2	-	22	3917	c.3756C>T	c.(3754-3756)agC>agT	p.S1252S	LAMB1_uc003vew.2_Silent_p.S1228S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1228	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S1228S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTTATCTCGCTGACTTTCC	0.517000														59			45		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56817587	56817587	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56817587G>A	uc001slf.2	-	15	2128	c.1960C>T	c.(1960-1962)Ctt>Ttt	p.L654F		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	654					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCACGGGGAAGTGGAGCAGAG	0.507000														52			30		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112926865	112926865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:112926865G>A	uc003kqn.3	+	26	4155	c.3953G>A	c.(3952-3954)cGg>cAg	p.R1318Q		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1318	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AGTAATGAACGGAAGCTAAAT	0.398000														76			37		0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2276740	2276740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:2276740C>T	uc002fum.4	+	16	2210	c.2033C>T	c.(2032-2034)tCc>tTc	p.S678F	SGSM2_uc002fun.4_Missense_Mutation_p.S633F|SGSM2_uc010vqw.2_Missense_Mutation_p.S633F|SGSM2_uc002fuo.2_3'UTR|SGSM2_uc002fuq.3_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	633	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACCAAGTTCTCCTCAGGCAGC	0.652000														9			20		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51458162	51458162	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:51458162G>A	uc003dbe.2	-	13	2288	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	VPRBP_uc021wys.1_Silent_p.I700I|VPRBP_uc003dbf.1_Silent_p.I30I	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	754					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCAGGGCCCGGATTTGGTCTG	0.557000														139			27		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308966	248308966	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:248308966G>A	uc010pze.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E173K(2)|p.R172W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGGTCTCGGGAAATAGCCCA	0.428000														137			213		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157767670	157767670	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:157767670C>T	uc001frg.3	-	8	1287	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	FCRL1_uc001frf.3_Intron|FCRL1_uc001frh.3_Missense_Mutation_p.E392K|FCRL1_uc001fri.3_Intron|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	392						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTACTGATTCCTGCTCCGGC	0.483000														19			39		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48807693	48807693	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:48807693G>A	uc001zwx.2	-	11	1754	c.1359C>T	c.(1357-1359)tgC>tgT	p.C453C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	453	EGF-like 6.				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	p.Y452C(1)		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)		GGACCAACTGGCAGTAATCAG	0.463000														30			36		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66859151	66859151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:66859151G>A	uc001stk.3	-	7	1017	c.776C>T	c.(775-777)cCt>cTt	p.P259L	GRIP1_uc010sta.1_Missense_Mutation_p.P203L|GRIP1_uc001stj.3_5'UTR|GRIP1_uc001stm.3_Missense_Mutation_p.P259L|GRIP1_uc001stl.1_Missense_Mutation_p.P203L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	259	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCTGGCACCAGGAGTTTTGGC	0.413000														23			32		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330826	33330826	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:33330826G>A	uc002xav.3	-	11	5805	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V	NCOA6_uc002xaw.3_Silent_p.V1078V|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Silent_p.V1078V|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1078	NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GACTGACCATGACAGGCACAC	0.527000														134			20		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55025539	55025539	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:55025539C>T	uc001sgi.1	-	3	376	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	113					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GAATTGTTTTCCACCTGGCAC	0.473000														68			13		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135098321	135098321	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:135098321C>T	uc003vsv.2	-	5	934	c.603G>A	c.(601-603)aaG>aaA	p.K201K	CNOT4_uc011kpy.2_Silent_p.K201K|CNOT4_uc011kpz.2_Silent_p.K201K|CNOT4_uc003vst.3_Silent_p.K201K|CNOT4_uc003vss.3_Silent_p.K201K|CNOT4_uc003vsu.2_Silent_p.K201K	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	201					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ACTGCATATTCTTTAAGAAGT	0.428000														34			16		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73759361	73759361	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:73759361G>A	uc001ouu.2	-	27	5611	c.5384C>T	c.(5383-5385)tCc>tTc	p.S1795F	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1795						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGCAGGGAAGGAAAAGGGACT	0.433000														18			8		0	0	1	0	0
RRP7A	27341	broad.mit.edu	37	22	42912125	42912125	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:42912125G>A	uc003bcp.3	-	0	797	c.303C>T	c.(301-303)ctC>ctT	p.L101L	RRP7A_uc003bcq.3_Silent_p.L78L	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	78							RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						AGGTGGACAGGAGGCGGGACA	0.622000														7			17		0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74159269	74159269	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:74159269C>T	uc003uau.3	+	20	2293	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GTF2I_uc003uav.3_Silent_p.F620F|GTF2I_uc003uaw.3_Silent_p.F621F|GTF2I_uc003uay.3_Silent_p.F619F|GTF2I_uc003uax.3_Silent_p.F600F	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	641					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAATCAAGTTCGTTGTTAAAA	0.413000														38			18		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154855984	154855984	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:154855984G>A	uc010hvr.1	+	8	1025	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	MME_uc003fab.1_Missense_Mutation_p.E272K|MME_uc003fac.1_Missense_Mutation_p.E272K|MME_uc003fad.1_Missense_Mutation_p.E272K|MME_uc003fae.1_Missense_Mutation_p.E272K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	272					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCTTGCTTTGGAAATGAATAA	0.358000														41			35		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936912	15936912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:15936912G>A	uc003jfn.1	+	3	1574	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	365					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGGGTCACCGACGTGGGCAT	0.677000														4			7		0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146126700	146126700	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:146126700G>T	uc003qla.3	-	1	1041	c.842C>A	c.(841-843)tCt>tAt	p.S281Y	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	281							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ACAAAGAGCAGAAGTGTCATA	0.343000														148			19		3.32936e-07	3.3443e-07	1	1	0
STIL	6491	broad.mit.edu	37	1	47735460	47735460	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:47735460G>A	uc001crd.1	-	13	2617	c.2462C>T	c.(2461-2463)tCc>tTc	p.S821F	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S774F|STIL_uc010omo.1_Missense_Mutation_p.S821F|STIL_uc001crc.1_Missense_Mutation_p.S821F|STIL_uc001cre.1_Missense_Mutation_p.S821F|STIL_uc001crf.1_Missense_Mutation_p.S434F|STIL_uc001crg.1_Missense_Mutation_p.S774F	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	821					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTCCTCACTGGAAATTTTGGT	0.373000														28			56		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897222	153897222	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:153897222C>T	uc003inf.2	+	10	2854	c.2779C>T	c.(2779-2781)Ccc>Tcc	p.P927S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	927					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATCCCGGGGGCCCTCCCAGAA	0.672000														60			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675720	100675720	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:100675720C>T	uc003uxp.1	+	2	1076	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	341	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTACGCCTGCCAGCACCATGC	0.483000														230			158		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39613338	39613338	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:39613338C>T	uc003xnj.3	-	15	1781	c.1706G>A	c.(1705-1707)gGa>gAa	p.G569E	ADAM2_uc003xnk.3_Missense_Mutation_p.G550E|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Missense_Mutation_p.G413E	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	569	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S568C(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCAGAGATGTCCACTTATGTT	0.348000														32			11		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139413	3139413	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:3139413G>A	uc002ctv.1	-	4	1945	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	ZSCAN10_uc002cty.1_Silent_p.S280S|ZSCAN10_uc002ctw.1_Silent_p.S537S|ZSCAN10_uc002ctx.1_Silent_p.S547S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	619					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCAGGTTGGAGCTATTGCGGA	0.711000														55			32		0	0	1	0	0
CPLX2	10814	broad.mit.edu	37	5	175306953	175306953	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:175306953G>A	uc003mde.1	+	4	656	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	CPLX2_uc003mdf.1_Missense_Mutation_p.G104S|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	104					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol		p.A103A(1)		endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CATCCCTGCGGGCTGCGGGGA	0.627000														13			18		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593705	123593705	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:123593705C>T	uc003vle.3	+	2	520	c.81C>T	c.(79-81)ttC>ttT	p.F27F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F27F|SPAM1_uc022aks.1_Silent_p.F27F|SPAM1_uc003vlf.4_Silent_p.F27F|SPAM1_uc010lku.3_Silent_p.F27F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	27					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTTTCACCTTCCTTCTGATTC	0.408000														25			8		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22265811	22265811	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:22265811C>T	uc010air.1	+	1	226	c.94C>T	c.(94-96)Ctc>Ttc	p.L32F	TRA_uc021rpa.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 172.																		CCACGTAATTCTCTCTGAAGC	0.448000														21			92		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614882	184614882	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:184614882T>C	uc003ivx.3	+	20	2580	c.2378T>C	c.(2377-2379)tTa>tCa	p.L793S	TRAPPC11_uc003ivw.3_Missense_Mutation_p.L793S|TRAPPC11_uc010isc.3_Missense_Mutation_p.L137S|TRAPPC11_uc003ivy.3_Missense_Mutation_p.L399S	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	793																	ACCGCTGGCTTAAAACCAGGT	0.393000														40			8		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457486	21457486	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:21457486G>A	uc001rer.3	-	4	715	c.464C>T	c.(463-465)tCa>tTa	p.S155L	SLCO1A2_uc010siq.2_Missense_Mutation_p.S23L|SLCO1A2_uc001res.3_Missense_Mutation_p.S155L|SLCO1A2_uc010sio.2_Missense_Mutation_p.S23L|SLCO1A2_uc010sip.2_Missense_Mutation_p.S23L|SLCO1A2_uc001ret.3_Missense_Mutation_p.S153L|SLCO1A2_uc001reu.2_Missense_Mutation_p.S135L	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	155					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CCACATTAATGATTTAACTTC	0.353000														46			14		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148891574	148891574	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:148891574C>T	uc009wkv.1	+	8		c.876C>T								Homo sapiens cDNA, FLJ17483.																		TTGACTGAATCAGGGAAGACT	0.358000														124			5		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94007025	94007025	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:94007025T>A	uc001ybv.1	+	9	924	c.841T>A	c.(841-843)Ttc>Atc	p.F281I	UNC79_uc001ybs.1_Missense_Mutation_p.F281I|UNC79_uc001ybu.1_Missense_Mutation_p.F219I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	458						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGAAGCCGAGTTCCATGCTGA	0.488000														15			39		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39874869	39874869	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:39874869G>A	uc003opb.3	-	9	1313	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	MOCS1_uc003opa.3_3'UTR|MOCS1_uc003opd.3_3'UTR|MOCS1_uc003ope.3_Missense_Mutation_p.S289F	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	392					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCTGGTGGGGAATTGGGGAA	0.473000														22			30		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956611	93956611	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:93956611C>T	uc003poe.3	-	14	2866	c.2625G>A	c.(2623-2625)aaG>aaA	p.K875K	EPHA7_uc003pof.3_Silent_p.K870K|EPHA7_uc011eac.2_Silent_p.K871K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	875	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAGCACGCTCCTTTTGCCAAC	0.423000														37			23		0	0	1	0	0
GLYCTK	132158	broad.mit.edu	37	3	52326387	52326387	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:52326387C>T	uc003ddo.3	+	4	913	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	GLYCTK_uc003ddq.2_Missense_Mutation_p.S214L|GLYCTK_uc003ddm.3_Non-coding_Transcript|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.R273C|GLYCTK_uc003ddr.3_5'UTR	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	273					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TATCCTCAATCGCTACGGCCT	0.607000														34			18		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98378574	98378574	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:98378574G>A	uc002syh.4	-	35	5042	c.4813C>T	c.(4813-4815)Ccg>Tcg	p.P1605S	TMEM131_uc002syg.3_5'Flank	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1605						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGGGGAGACGGGGAAGCAGGT	0.547000														38			23		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34807691	34807691	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:34807691G>A	uc010gfq.3	+	8	3021	c.2658G>A	c.(2656-2658)ggG>ggA	p.G886G	EPB41L1_uc002xeu.3_Silent_p.G686G|EPB41L1_uc002xev.3_Silent_p.G787G|EPB41L1_uc002xew.3_Silent_p.G679G|EPB41L1_uc002xex.3_Silent_p.G608G|EPB41L1_uc002xey.3_Silent_p.G538G|EPB41L1_uc002xez.3_Silent_p.G686G|EPB41L1_uc002xfb.3_Silent_p.G788G	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	788					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGATCATCGGGAAAGATGTCC	0.607000														77			21		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51246236	51246236	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:51246236C>T	uc011bds.2	+	12	1092	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	357						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCCCAGATCCACGAGAACAT	0.453000														6			7		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121947466	121947466	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:121947466C>T	uc001uat.3	-	10	1655	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L	KDM2B_uc001uar.3_Silent_p.L108L|KDM2B_uc001uas.3_Silent_p.L486L|KDM2B_uc021rfd.1_Silent_p.L486L|KDM2B_uc001uau.3_Silent_p.L400L|KDM2B_uc021rfe.1_Silent_p.L517L|KDM2B_uc001uav.4_Silent_p.L427L	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	517					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGAGCTTTCAGGCCCTTCA	0.602000														34			42		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107847042	107847042	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:107847042C>T	uc003hyi.3	-	1	992	c.287G>A	c.(286-288)gGa>gAa	p.G96E	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.G96E	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	96	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGCCGATGATCCTTGGTGGGG	0.512000														59			14		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274182	10274182	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:10274182C>T	uc010uym.2	-	2	397	c.87G>A	c.(85-87)aaG>aaA	p.K29K	GRIN2A_uc002czo.4_Silent_p.K29K|GRIN2A_uc002czr.4_Silent_p.K29K|GRIN2A_uc010buk.3_Silent_p.K29K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	29					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGGGGGACCCTTCTCCGCCG	0.692000														41			29		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692189	12692189	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:12692189G>A	uc002mtz.2	-	4	829	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AAGGAAAAGAGAAATGCGAAG	0.433000														30			8		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131373	17131373	+	Missense_Mutation	SNP	C	T	T	rs144997343		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:17131373C>T	uc011awc.2	+	6	3425	c.3329C>T	c.(3328-3330)cCc>cTc	p.P1110L	PLCL2_uc011awd.2_Missense_Mutation_p.P992L	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1118					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAAGTCATACCCGAAAAAGCA	0.423000														24			18		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124191384	124191384	+	Silent	SNP	C	T	T	rs139902134		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:124191384C>T	uc001ufp.3	+	15	2009	c.1881C>T	c.(1879-1881)ccC>ccT	p.P627P	TCTN2_uc009zya.3_Silent_p.P626P	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	627					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CACAGTTACCCCACCCCCTGA	0.433000														38			11		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188832	11188832	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:11188832C>T	uc003wtp.1	+	0	338	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	73	DUF6 1.					integral to membrane											GCTGGAGCTGCTCATCTGTCG	0.637000														145			82		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52493941	52493942	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:52493941_52493942GG>AA	uc001wzo.3	-	11	2885_2886	c.2651_2652CC>TT	c.(2650-2652)gcc>gTT	p.A884V	NID2_uc010tqs.2_Intron|NID2_uc010tqt.1_Missense_Mutation_p.A884V|NID2_uc001wzp.3_Missense_Mutation_p.A884V	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	884	EGF-like 4.					basement membrane	calcium ion binding|collagen binding	p.A884A(2)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCCCATCGCCGGCATAACCAGG	0.589000														1			9		0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526394	84526394	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:84526394G>A	uc004eeq.3	+	9	2870	c.1984G>A	c.(1984-1986)Gat>Aat	p.D662N	ZNF711_uc004eep.3_Missense_Mutation_p.D616N|ZNF711_uc004eeo.3_Missense_Mutation_p.D616N|ZNF711_uc011mqy.1_Missense_Mutation_p.D215N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	616					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CCATACTAAGGATTTTCCTCA	0.408000														5			12		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156665	22156665	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:22156665G>A	uc021urr.1	-	3	1320	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTTTCTTA	0.378000														12			29		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823882	47823882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:47823882C>T	uc002pgj.1	+	1	897	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	283					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		AAGCTGGACTCCCTGTGTGTC	0.567000														50			47		0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27830724	27830724	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:27830724C>T	uc002rla.3	+	9	1036	c.949C>T	c.(949-951)Cca>Tca	p.P317S	ZNF512_uc010ylw.2_Missense_Mutation_p.P288S|ZNF512_uc002rlb.3_Missense_Mutation_p.P238S|ZNF512_uc010ylx.2_Missense_Mutation_p.P238S|ZNF512_uc002rlc.3_Missense_Mutation_p.P238S|ZNF512_uc010ylv.2_Missense_Mutation_p.P238S|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Missense_Mutation_p.P210S	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					ATCCTTCTTTCCAGAGTCAGG	0.478000														27			6		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42264848	42264848	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:42264848C>T	uc003cky.3	+	15	2697	c.2481C>T	c.(2479-2481)gtC>gtT	p.V827V	TRAK1_uc011azi.2_Silent_p.V806V	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	827					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AAAAGAACGTCCGCAGCAGCG	0.577000														19			25		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989651	15989651	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:15989651G>A	uc002nbs.1	-	12	1543	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	CYP4F2_uc010xot.1_Missense_Mutation_p.P349L	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	498					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCCTGCGGGGCTCGGTGTG	0.667000														62			4		0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48446052	48446052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:48446052C>T	uc001zwi.4	-	9	1148	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	MYEF2_uc001zwh.4_5'Flank|MYEF2_uc001zwj.4_Missense_Mutation_p.G342R|MYEF2_uc001zwl.3_Missense_Mutation_p.G182R	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	342	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|RNA binding|nucleotide binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ATAGGCTGTCCACCCGGACCA	0.393000														18			11		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181724441	181724441	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:181724441C>T	uc009wxt.3	+	27	4092	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F	CACNA1E_uc001gow.3_Silent_p.F1299F|CACNA1E_uc009wxs.3_Silent_p.F1280F|CACNA1E_uc001gox.1_Silent_p.F525F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1299					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACAAGCTCTTCATGTTCATCT	0.473000														50			92		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151837862	151837862	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:151837862C>T	uc010ipj.3	-	5	918	c.674G>A	c.(673-675)tGg>tAg	p.W225*	LRBA_uc003ilu.4_Nonsense_Mutation_p.W225*|LRBA_uc010ipk.1_Nonsense_Mutation_p.W144*	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	225						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGGTATGGCCATTTGGCTAT	0.318000														10			20		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	549873	549873	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:549873C>T	uc001qig.3	+	10	1312	c.1132C>T	c.(1132-1134)Cgt>Tgt	p.R378C	CCDC77_uc009zdk.3_Missense_Mutation_p.R346C|CCDC77_uc010sdp.2_Missense_Mutation_p.R346C|CCDC77_uc010sdq.2_Missense_Mutation_p.R346C	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	378						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGCCCGAATTCGTGAGGAAGA	0.433000														40			11		0	0	1	0	0
ESAM	90952	broad.mit.edu	37	11	124626244	124626244	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:124626244G>A	uc001qav.4	-	3	639	c.466C>T	c.(466-468)Cca>Tca	p.P156S	ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Missense_Mutation_p.P83S|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Intron	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	156	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CGGCAGGATGGAGGAGCTGGA	0.597000														10			6		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330313	128330313	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:128330313G>A	uc003qbk.3	-	13	2659	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	PTPRK_uc010kfc.3_Silent_p.I765I|PTPRK_uc003qbj.3_Silent_p.I765I|PTPRK_uc011ebu.2_Silent_p.I765I|PTPRK_uc003qbl.1_Silent_p.I635I|PTPRK_uc011ebv.1_Silent_p.I765I	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	764					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGAGAAGGAGGATGAACACCA	0.418000														63			20		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881601	228881601	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:228881601G>A	uc002vpq.2	-	6	4016	c.3969C>T	c.(3967-3969)atC>atT	p.I1323I	SPHKAP_uc002vpp.2_Silent_p.I1323I|SPHKAP_uc010zlx.1_Silent_p.I1323I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1323						cytoplasm	protein binding	p.I1323I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCCACAATGATTTTGTTCT	0.493000														42			20		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711115	41711115	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:41711115C>T	uc002yyq.1	-	6	1890	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	480	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGGTAGACTCCCCCGTCCCGG	0.562000														42			14		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43696745	43696745	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:43696745G>A	uc001zro.3	+	16	2226	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L	TUBGCP4_uc001zrn.3_Silent_p.L661L|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	662					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGGAACTCTGGGCAGGTAGG	0.408000														35			14		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61956365	61956365	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:61956365G>A	uc001jky.3	-	14	2046	c.1708C>T	c.(1708-1710)Cat>Tat	p.H570Y	ANK3_uc010qih.2_Missense_Mutation_p.H553Y|ANK3_uc001jkz.4_Missense_Mutation_p.H564Y|ANK3_uc001jlb.1_Missense_Mutation_p.H99Y|ANK3_uc001jlc.1_Missense_Mutation_p.H231Y	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	570					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGCCACATGAAGAGGAGTA	0.388000														4			9		0	0	1	0	0
ZNF155	7711	broad.mit.edu	37	19	44500381	44500381	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:44500381C>T	uc010xwt.1	+	5	589	c.405C>T	c.(403-405)ttC>ttT	p.F135F	ZNF155_uc002oxy.1_Silent_p.F124F|ZNF155_uc002oxz.1_Silent_p.F124F	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACTCTCAGTTCTTTGAAAATG	0.458000														30			27		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48367985	48367985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:48367985C>T	uc001rqu.3	-	52	4385	c.4204G>A	c.(4204-4206)Gaa>Aaa	p.E1402K	COL2A1_uc001rqt.3_Missense_Mutation_p.E183K|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.E1333K	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1402	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGCTGCTTCGTCCAGATAG	0.567000														31			30		0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410686	153410686	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:153410686G>A	uc010pdx.2	-	1	231	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.									p.S50C(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGTTGGGGAAGTTCTCCT	0.507000														28			38		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40384076	40384076	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:40384076G>A	uc002omp.4	-	20	9542	c.9534C>T	c.(9532-9534)gcC>gcT	p.A3178A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3178	TIL 7.					extracellular region	protein binding	p.A3178V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCACATACGGCTGGCGTCG	0.647000														170			45		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173532	113173532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:113173532C>T	uc010mtz.3	-	36	6796	c.6459G>A	c.(6457-6459)atG>atA	p.M2153I	SVEP1_uc010mty.3_Missense_Mutation_p.M79I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2153	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATAGCCATTCATGATGCTTG	0.517000														13			30		0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163235180	163235180	+	Splice_Site	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:163235180T>C	uc003qua.3	+	3	381	c.157_splice	c.e3-1	p.V53_splice	PACRG_uc003qub.3_Splice_Site_p.V53_splice|PACRG_uc003quc.3_Splice_Site_p.V53_splice	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	53										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CCAATTAAGGTGAGAGGCCCT	0.363000														51			27		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574588	142574588	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142574588C>T	uc003wbx.2	-	4	719	c.490G>A	c.(490-492)Gag>Aag	p.E164K	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.E35K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	164					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AAAGGGTGCTCCCCTGTGGAC	0.572000														27			10		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876190	125876190	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:125876190C>T	uc003eim.1	-	3	714	c.524G>A	c.(523-525)gGg>gAg	p.G175E	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.G201E|ALDH1L1_uc003eip.1_Missense_Mutation_p.G84E|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	175	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCTCACCATCCCTTTGATGCC	0.657000														69			48		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042651	74042651	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:74042651G>A	uc002sjr.1	+	2	1422	c.1301G>A	c.(1300-1302)gGg>gAg	p.G434E		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	434										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TTTGAAAATGGGATTGAGTCT	0.458000														26			16		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	406981	406981	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:406981G>A	uc003zgf.2	+	27	3554	c.3442G>A	c.(3442-3444)Gat>Aat	p.D1148N	DOCK8_uc022bcu.1_Missense_Mutation_p.D1080N|DOCK8_uc010mgv.3_Missense_Mutation_p.D1048N|DOCK8_uc010mgu.3_Missense_Mutation_p.D450N|DOCK8_uc003zgk.2_Missense_Mutation_p.D606N	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1148					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.D1148N(1)|p.D1080N(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGCATGTTCGATCTGACTTC	0.537000														20			47		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134072500	134072500	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:134072500G>A	uc011ljd.2	-	0	104	c.26C>T	c.(25-27)cCa>cTa	p.P9L	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mdy.1_Intron|SLA_uc010mdz.1_Intron|SLA_uc010mea.2_Intron	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	0						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCCTCCAAGTGGAGAATGACC	0.502000														9			13		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47601351	47601351	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:47601351C>T	uc002xtx.4	+	14	2196	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	ARFGEF2_uc010zyf.2_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	682	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGCCCAATTCCTGCACCAGGA	0.527000														116			69		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	453869	453869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:453869C>T	uc003jba.3	+	3	877	c.749C>T	c.(748-750)aCc>aTc	p.T250I		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	261					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAAATGTTCACCATCTTGGAG	0.488000														36			56		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236829	140236829	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140236829C>T	uc003lhx.2	+	0	1196	c.1196C>T	c.(1195-1197)aCc>aTc	p.T399I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.T399I|PCDHAC2_uc011dad.2_Missense_Mutation_p.T399I	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	414	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTCCACCTACAAGAAT	0.592000														91			72		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853479	12853479	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:12853479C>T	uc001auj.2	+	1	206	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	35										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCAGGGTGCTCTATCTCCC	0.617000														155			34		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286319	57286319	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:57286319G>A	uc002qnr.2	-	10	1703	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.P237S|PEG3_uc010ygq.1_Missense_Mutation_p.P237S|PEG3_uc010etp.2_Missense_Mutation_p.P441S|PEG3_uc010ygs.1_Missense_Mutation_p.P441S|PEG3_uc002qnq.2_Missense_Mutation_p.P441S	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	585					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACCCAGGAGGAAGGACTCTT	0.478000														31			9		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91421520	91421520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:91421520C>T	uc002bpu.1	+	7	1042	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	276					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGCCTTCTTCCGTGGGGTTAG	0.587000														38			11		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323032	124323032	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:124323032G>A	uc001uft.4	+	27	4603	c.4578G>A	c.(4576-4578)gtG>gtA	p.V1526V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1526	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGACCCCGTGATCAAGAGGT	0.547000														21			7		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5733876	5733876	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:5733876C>T	uc002mda.3	+	4	347	c.286C>T	c.(286-288)Cca>Tca	p.P96S	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	96						integral to membrane											GGTCGGCGTACCAGAAGTGAC	0.343000														23			7		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	209028143	209028143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:209028143G>A	uc002vcq.4	-	1	54	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	13	Beta/gamma crystallin 'Greek key' 1.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CAGCGACCCTGAAAGTCTCGG	0.542000														78			31		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56699100	56699100	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:56699100G>A	uc010dcz.2	-	4	583	c.465C>T	c.(463-465)atC>atT	p.I155I	TEX14_uc002iwr.2_Silent_p.I155I|TEX14_uc002iws.2_Silent_p.I155I|TEX14_uc010dda.2_5'UTR	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	155						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAAGCCCTGGATGATGGCCT	0.582000														37			25		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158504540	158504540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:158504540G>A	uc003qqx.2	+	20	3051	c.2945G>A	c.(2944-2946)cGa>cAa	p.R982Q	SYNJ2_uc003qqw.2_Missense_Mutation_p.R982Q|SYNJ2_uc003qqy.2_Missense_Mutation_p.R745Q|SYNJ2_uc003qqz.2_Missense_Mutation_p.R599Q|SYNJ2_uc003qra.2_Missense_Mutation_p.R325Q	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	982							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATTCGGAAACGAGACAGCATG	0.532000														39			32		0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31117976	31117976	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:31117976G>A	uc003nsp.4	-	7	1418	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	CCHCR1_uc011dne.2_Missense_Mutation_p.S321F|CCHCR1_uc003nsq.4_Missense_Mutation_p.S374F|CCHCR1_uc003nsr.4_Missense_Mutation_p.S321F|CCHCR1_uc010jsk.1_Missense_Mutation_p.S321F	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	321					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGGCTCCAGGGAATCTGAAGG	0.572000														28			12		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052591	44052591	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:44052591G>A	uc001jaw.4	-	1	1590	c.937C>T	c.(937-939)Cac>Tac	p.H313Y	ZNF239_uc001jax.4_Missense_Mutation_p.H313Y|ZNF239_uc009xmj.3_Missense_Mutation_p.H313Y|ZNF239_uc009xmk.3_Missense_Mutation_p.H313Y|ZNF239_uc021pph.1_Missense_Mutation_p.H313Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.V312V(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCTCCAGTGTGGACTCGCTGG	0.522000														22			30		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76062171	76062171	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:76062171G>A	uc001oxh.1	-	4	2023	c.2023C>T	c.(2023-2025)Cct>Tct	p.P675S	PRKRIR_uc021qnn.1_Missense_Mutation_p.P500S|PRKRIR_uc010rrz.1_Missense_Mutation_p.P500S	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	675					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TACACATTAGGAAAAAACTTG	0.428000														71			21		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471168	44471168	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:44471168C>T	uc002oxx.2	+	5	1842	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	ZNF221_uc010ejb.1_Missense_Mutation_p.P505L|ZNF221_uc010xws.1_Missense_Mutation_p.P505L	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGGGAAAAACCTTTCAAATGT	0.443000														32			21		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135047787	135047787	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:135047787G>A	uc011kpy.2	-	11	2323	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	CNOT4_uc011kpz.2_Silent_p.I661I|CNOT4_uc003vst.3_Silent_p.I593I|CNOT4_uc003vss.3_Silent_p.I590I	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	330					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGTGCAGCGGGATCTGTGTGC	0.612000														103			76		0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026036	129026036	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:129026036G>A	uc002tpt.4	-	1	970	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	312					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGGGCCGGATGAACTTGAGGT	0.612000														14			22		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492197	107492197	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:107492197C>T	uc010hpr.3	+	10	1956	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	BBX_uc003dwk.4_Silent_p.S543S|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Silent_p.S564S|BBX_uc003dwm.4_Silent_p.S543S|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S543S(2)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGGAGAAATCCTCAGACACCA	0.428000														39			25		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196620890	196620890	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:196620890C>T	uc002utj.4	-	61	11654	c.11553G>A	c.(11551-11553)gtG>gtA	p.V3851V	DNAH7_uc002uti.4_Silent_p.V334V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3851					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAAGTCATTCACATAGCTGC	0.383000														30			8		0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205801747	205801747	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:205801747C>T	uc001hdj.3	-	10	1340	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	422						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ATATTGACTTCCGGGAAGACG	0.577000														70			14		0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129349023	129349024	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:129349023_129349024CC>TT	uc003vpa.3	+	5	835_836	c.715_716CC>TT	c.(715-717)ccc>TTc	p.P239F	NRF1_uc003voz.3_Missense_Mutation_p.P239F|NRF1_uc011kpa.2_Missense_Mutation_p.P78F|NRF1_uc003vpb.3_Missense_Mutation_p.P239F	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	239					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	p.P239P(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGAAGATATCCCCTGGGCAAAT	0.515000														111			69		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117375660	117375660	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:117375660C>T	uc001prh.1	-	9	2343	c.2341G>A	c.(2341-2343)Gtc>Atc	p.V781I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	721	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCCACATGACCTTGGGTGGG	0.592000														34			21		0	0	1	0	0
GNG4	2786	broad.mit.edu	37	1	235747047	235747047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:235747047C>T	uc001hxe.4	-	2	546	c.92G>A	c.(91-93)aGg>aAg	p.R31K	GNG4_uc009xfz.3_Missense_Mutation_p.R31K|GNG4_uc001hxh.4_Missense_Mutation_p.R31K	NM_001098722	NP_004476	P50150	GBG4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 4 (GNG4), transcript variant 1, mRNA.	31					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TACCTTGACCCTGTCCATACA	0.517000														41			98		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79326062	79326062	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:79326062G>A	uc010mpk.3	-	7	1252	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	PRUNE2_uc022bih.1_Silent_p.A198A	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	376					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGAGAGGGGGGCACTGCCTG	0.517000														4			9		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101654122	101654122	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:101654122C>A	uc010fiv.3	-	7	1410	c.1279G>T	c.(1279-1281)Ggg>Tgg	p.G427W	TBC1D8_uc010yvw.2_Missense_Mutation_p.G442W|TBC1D8_uc002tau.4_Missense_Mutation_p.G184W	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	427					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCAAGATCCCCAAATCTGTGG	0.502000														60			32		3.03874e-20	3.08003e-20	1	1	0
HAO2	51179	broad.mit.edu	37	1	119929329	119929329	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:119929329C>T	uc001ehr.1	+	4	778	c.646C>T	c.(646-648)Cga>Tga	p.R216*	HAO2_uc001ehq.1_Nonsense_Mutation_p.R216*	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	216	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R216Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GAGCATAACTCGATTGCCCAT	0.428000														65			21		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1268386	1268386	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:1268386G>A	uc002cks.3	+	32	5870	c.5622G>A	c.(5620-5622)gcG>gcA	p.A1874A	CACNA1H_uc002ckt.3_Silent_p.A1868A|CACNA1H_uc002cku.3_Silent_p.A580A|CACNA1H_uc010brj.3_Silent_p.A585A|CACNA1H_uc002ckv.3_Silent_p.A574A	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1874					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGGAGGATGCGGAGCTGGACG	0.682000														6			4		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134989	39134989	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:39134989C>T	uc003jls.3	-	6	1710	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	FYB_uc003jlt.3_Missense_Mutation_p.G548E|FYB_uc003jlu.3_Missense_Mutation_p.G548E|FYB_uc011cpl.2_Missense_Mutation_p.G558E	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	548	SH3.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.E547V(1)|p.G548*(1)|p.G548R(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CAACCATTTTCCTTCTGGGTT	0.418000														46			29		0	0	1	0	0
LPPR2	64748	broad.mit.edu	37	19	11470529	11470529	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:11470529C>T	uc002mrf.2	+	4	589	c.213C>T	c.(211-213)ttC>ttT	p.F71F	LPPR2_uc002mre.2_Silent_p.F96F|LPPR2_uc010dxy.2_5'UTR|Prion_pknot_uc021uph.1_5'Flank	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	96						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						GTGCCTTTTTCCCTGCACCAC	0.657000														21			13		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46996735	46996735	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:46996735G>A	uc003oyt.3	-	1	262	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Silent_p.F21F	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	21					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCACCCCCAGGAAGCCACCGT	0.517000														51			32		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90280911	90280911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:90280911G>A	uc002boj.3	+	14	1817	c.1716G>A	c.(1714-1716)tgG>tgA	p.W572*	WDR93_uc010bnr.3_Nonsense_Mutation_p.W544*|WDR93_uc010upz.2_Nonsense_Mutation_p.W289*	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	572					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGTCCCCTGGAAGCCAGTGT	0.542000														23			31		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547741	35547741	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:35547741C>T	uc003zww.3	+	1	1478	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.S408L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	408						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTCCCAATCATCCCCAAGC	0.567000														27			70		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658496	142658496	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142658496G>A	uc003wcb.3	-	2	384	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	58					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAAACAAAGGAGCAGGCCCA	0.582000														29			21		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11363159	11363159	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:11363159C>T	uc002das.3	-	1	1	c.-40_splice	c.e1-1		RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.						cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CCTCCTCATCCTCTCCCAGCA	0.582000														25			15		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826916	46826916	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:46826916G>A	uc003oyo.3	-	16	3013	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	GPR116_uc011dwj.1_Silent_p.I463I|GPR116_uc011dwk.1_Silent_p.I337I|GPR116_uc003oyp.3_Silent_p.I766I|GPR116_uc003oyq.3_Silent_p.I908I|GPR116_uc010jzi.1_Silent_p.I580I	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	908					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTGGGCAAGGATGGCTTGGA	0.448000														57			34		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661061	4661061	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:4661061C>T	uc010qyk.2	+	0	117	c.41C>T	c.(40-42)tCa>tTa	p.S14L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCCACTTCAAATGGAAAT	0.473000														72			46		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119957972	119957972	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:119957972G>A	uc001txe.3	+	8	1480	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	339										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCTTATAAGGAAATGCAGAC	0.483000														96			38		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232835	21232835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:21232835C>T	uc002red.3	-	25	7033	c.6905G>A	c.(6904-6906)gGa>gAa	p.G2302E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2302					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)	AATTGTAGTTCCCAATTGATC	0.328000														55			37		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48272128	48272128	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:48272128C>T	uc002iqm.3	-	20	1541	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	472	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGTTCACCTCGAGCTCCTCG	0.697000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							4			4		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41161821	41161821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:41161821C>T	uc003jmk.2	-	9	1642	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	C6_uc003jml.1_Missense_Mutation_p.E478K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	478	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAGGATTTTCCTTCACTGAT	0.428000														92			41		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156742036	156742036	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:156742036C>T	uc021ygm.1	+	12	1425	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	CYFIP2_uc011ddn.2_Silent_p.T404T|CYFIP2_uc011ddo.2_Silent_p.T234T|CYFIP2_uc021ygn.1_Silent_p.T429T|CYFIP2_uc021ygo.1_Silent_p.T429T|CYFIP2_uc003lwt.3_Silent_p.T308T|CYFIP2_uc011ddp.2_Silent_p.T164T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	430					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCTGGCACCGCGGAGGAAT	0.522000														7			9		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819456	17819456	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:17819456G>A	uc022btm.1	-	0	675	c.675C>T	c.(673-675)gtC>gtT	p.V225V	RAI2_uc004cyf.3_Silent_p.V225V|RAI2_uc004cyg.3_Silent_p.V225V|RAI2_uc011miy.2_Silent_p.V175V|RAI2_uc022btl.1_Silent_p.V225V|RAI2_uc004cyh.4_Silent_p.V225V|RAI2_uc010nfa.3_Silent_p.V225V	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	225	Pro-rich.				embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TGGCTGGTGGGACCAGGGGGG	0.632000														5			31		0	0	1	0	0
CNIH3	149111	broad.mit.edu	37	1	224868717	224868717	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:224868717C>T	uc001hos.1	+	1	837	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	Homo sapiens cornichon homolog 3 (Drosophila) (CNIH3), mRNA.	47					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCAGTGCAATCCTGTTCATGC	0.483000														76			15		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178562941	178562941	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:178562941G>A	uc003mjw.3	-	12	2156	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	685	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A685T(2)|p.D684D(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGGCTGAAGGCGTCCTTGTA	0.637000														40			33		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439925	150439925	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150439925C>T	uc022apw.1	+	5	1450	c.1310C>T	c.(1309-1311)aCt>aTt	p.T437I	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.T233I	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CTCCAAAGAACTGGAGCTGGG	0.582000														41			23		0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34133673	34133673	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:34133673C>T	uc001mvk.3	+	3	519	c.275C>T	c.(274-276)cCc>cTc	p.P92L	NAT10_uc010ren.2_Missense_Mutation_p.P20L	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	92						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGGACGACCCCTTTGAACTC	0.483000														31			17		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946444	150946444	+	Silent	SNP	G	A	A	rs142348925	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:150946444G>A	uc003lue.4	-	0	2062	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	FAT2_uc010jhx.1_Silent_p.I683I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	683					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGTGGAGGATAGTCTTTG	0.408000														38			23		0	0	1	0	0
ATAD3A	55210	broad.mit.edu	37	1	1455959	1455959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:1455959C>T	uc001afz.2	+	6	982	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	ATAD3A_uc001aga.2_Missense_Mutation_p.R238C|ATAD3A_uc001agb.2_Missense_Mutation_p.R159C	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	Homo sapiens ATPase family, AAA domain containing 3A (ATAD3A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GGAAGGATTCCGTGCCTTTGT	0.587000														25			67		0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80085758	80085758	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:80085758G>A	uc002kdx.1	-	15	2410	c.2373C>T	c.(2371-2373)acC>acT	p.T791T	CCDC57_uc002kdy.3_Silent_p.T98T	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	792										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTGATTTACAGGTCACCGTGT	0.572000														41			44		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31297434	31297434	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:31297434G>A	uc003jhe.2	+	3	922	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CDH6_uc003jhd.2_Missense_Mutation_p.D188N	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.D188N(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGATGCAGATGATCCAACATA	0.378000														68			30		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114245	56114245	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:56114245T>C	uc010rjg.2	+	0	731	c.731T>C	c.(730-732)tTc>tCc	p.F244S		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TACAAAGCCTTCTCCACCTGT	0.403000										HNSCC(65;0.19)				44			6		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196874364	196874364	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:196874364C>T	uc001gtp.3	+	2	520	c.383C>T	c.(382-384)tCt>tTt	p.S128F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S127F|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	488	Sushi 2.				complement activation, alternative pathway	extracellular space		p.R127R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGGGAAATTCTTCAGGATCA	0.308000														42			84		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39934346	39934346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:39934346G>A	uc004den.4	-	3	545	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	BCOR_uc004dep.4_Missense_Mutation_p.P85S|BCOR_uc004deo.4_Missense_Mutation_p.P85S|BCOR_uc004dem.4_Missense_Mutation_p.P85S|BCOR_uc004deq.4_Missense_Mutation_p.P85S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	85			P -> L (in MCOPS2; dbSNP:rs28935183).		heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATGTTTCCCGGGACCCGCAGC	0.587000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							7			17		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57569798	57569798	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:57569798C>T	uc001snd.3	+	23	4366	c.3900C>T	c.(3898-3900)atC>atT	p.I1300I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1300					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAACACCATCGCCCTGGACT	0.597000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			23		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62593567	62593567	+	Silent	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:62593567A>C	uc003xuj.3	-	2	551	c.282T>G	c.(280-282)ggT>ggG	p.G94G	ASPH_uc011leg.2_Silent_p.G65G|ASPH_uc003xuo.2_Silent_p.G94G|ASPH_uc003xul.3_Silent_p.G80G|ASPH_uc011lei.2_Silent_p.G80G|ASPH_uc011lej.2_Silent_p.G80G|ASPH_uc011leh.2_Silent_p.G80G|ASPH_uc003xum.3_Silent_p.G94G|ASPH_uc003xun.3_Silent_p.G94G|ASPH_uc011lek.2_Silent_p.G94G|ASPH_uc011lel.2_Silent_p.G80G|ASPH_uc011lem.2_Silent_p.G65G|ASPH_uc003xur.3_Silent_p.G109G	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	94					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AATCTCCATCACCATCAGCAT	0.294000														52			32		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24491823	24491823	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:24491823C>T	uc003jgr.2	-	10	2244	c.1738G>A	c.(1738-1740)Ggc>Agc	p.G580S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	580	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G580A(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCAGTGTGCCTGTGCTGCTC	0.493000										HNSCC(23;0.051)				61			8		0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205555205	205555205	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:205555205C>T	uc001hcv.4	+	5	1105	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	MFSD4_uc010prk.2_Missense_Mutation_p.P253L|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.P285L	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	340					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTGGAGAAGCCCCTGTCTGTG	0.597000														58			11		0	0	1	0	0
HEATR7A	727957	broad.mit.edu	37	8	145223308	145223308	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:145223308C>T	uc003zbk.4	+	3	370	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	HEATR7A_uc003zbg.2_Missense_Mutation_p.R45C|HEATR7A_uc003zbi.4_Missense_Mutation_p.R45C|HEATR7A_uc003zbh.4_Missense_Mutation_p.R45C|HEATR7A_uc011lla.1_Missense_Mutation_p.R45C|HEATR7A_uc010mft.3_Missense_Mutation_p.R45C	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	45							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						GGAGACGCTCCGTGCCTGCGA	0.632000														33			25		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89599058	89599058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:89599058C>T	uc001dna.2	-	9	1684	c.1545G>A	c.(1543-1545)atG>atA	p.M515I	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	515						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GAGCCTCCATCATTTGCTGCT	0.443000														66			70		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664268	124664269	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:124664268_124664269CT>TC	uc003yqs.1	-	0	922_923	c.898_899AG>GA	c.(898-900)agg>GAg	p.R300E		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	300										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TAGGACGTCCCTGGTGGTCTGC	0.569000														74			23		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345791	124345791	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:124345791G>A	uc001lgk.1	+	15	1781	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	DMBT1_uc001lgl.1_Missense_Mutation_p.D549N|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.D559N|DMBT1_uc021qag.1_Missense_Mutation_p.D549N|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D559N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	559	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATTGTCCTGGATGACGTGCG	0.587000														55			92		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39945566	39945566	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:39945566C>T	uc021olw.1	+	61	17315	c.17315C>T	c.(17314-17316)tCc>tTc	p.S5772F	MACF1_uc021ols.1_Missense_Mutation_p.S5261F|MACF1_uc021olt.1_Missense_Mutation_p.S5264F|MACF1_uc001cde.2_Missense_Mutation_p.S141F|MACF1_uc001cdg.3_Missense_Mutation_p.S55F|MACF1_uc001cdh.3_Missense_Mutation_p.S55F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7222					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTCGAAGGTCCAAACCATCT	0.537000														68			14		0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30437396	30437396	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:30437396G>C	uc002ynb.3	-	6	754	c.655C>G	c.(655-657)Cat>Gat	p.H219D	CCT8_uc011acp.2_Missense_Mutation_p.H200D|CCT8_uc002yna.3_Missense_Mutation_p.H168D|CCT8_uc011acq.2_Missense_Mutation_p.H146D	NM_006585	NP_006576	P50990	TCPQ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta) (CCT8), mRNA.	219					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACCATGCCATGCAATACTGAA	0.388000														47			25		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895324	42895324	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:42895324G>A	uc003gwt.3	+	0	42	c.41G>A	c.(40-42)cGg>cAg	p.R14Q		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	14					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GACAGGCCACGGAAAGTCCGG	0.512000														77			23		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039114	184039114	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:184039114C>T	uc003fnp.3	+	9	1013	c.742C>T	c.(742-744)Cct>Tct	p.P248S	EIF4G1_uc003fno.2_Missense_Mutation_p.P189S|EIF4G1_uc010hxw.2_Missense_Mutation_p.P84S|EIF4G1_uc010hxx.3_Missense_Mutation_p.P255S|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Missense_Mutation_p.P255S|EIF4G1_uc003fnq.3_Missense_Mutation_p.P161S|EIF4G1_uc003fnr.3_Missense_Mutation_p.P84S|EIF4G1_uc003fns.3_Missense_Mutation_p.P208S|EIF4G1_uc003fnv.4_Missense_Mutation_p.P248S|EIF4G1_uc003fnw.3_Missense_Mutation_p.P255S|EIF4G1_uc003fnx.3_Missense_Mutation_p.P52S	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	248					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCAGGGCTGCCTGGCCCAGA	0.567000														89			34		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687748	61687748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:61687748C>T	uc002eog.2	-	11	3119	c.2164G>A	c.(2164-2166)Gat>Aat	p.D722N		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	722					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V721V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATAAATTCATCGACATCAACA	0.438000														48			30		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113660984	113660984	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:113660984C>T	uc001pof.1	+	0		c.1032C>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		TTGCTGTAACCGACAAAGACA	0.582000														21			6		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28974478	28974478	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:28974478T>C	uc003xhh.4	-	30	3766	c.3707A>G	c.(3706-3708)cAg>cGg	p.Q1236R	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1236					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTGCTGAGCTGAGGGCAGCC	0.582000														57			41		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408441	2408441	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:2408441C>T	uc010xgx.2	+	6	828	c.828C>T	c.(826-828)gtC>gtT	p.V276V	TMPRSS9_uc002lvv.1_Silent_p.V310V	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	276	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGTGGTCCAGATCGTCA	0.657000														71			62		0	0	1	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3145151	3145151	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:3145151C>A	uc002wia.1	-	2	3369	c.1971G>T	c.(1969-1971)aaG>aaT	p.K657N	ProSAPiP1_uc002wib.1_Missense_Mutation_p.K611N	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	657						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCAGGCCTTCTTCTCCTCGC	0.637000														43			17		4.7546e-09	4.791e-09	1	1	0
HEATR7A	727957	broad.mit.edu	37	8	145218744	145218744	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:145218744C>T	uc003zbk.4	+	2	252	c.15C>T	c.(13-15)tcC>tcT	p.S5S	HEATR7A_uc003zbg.2_Silent_p.S5S|HEATR7A_uc003zbi.4_Silent_p.S5S|HEATR7A_uc003zbh.4_Silent_p.S5S|HEATR7A_uc011lla.1_Silent_p.S5S|HEATR7A_uc010mft.3_Silent_p.S5S	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	5							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						CTGAGTCCTCCATGAAGAGTG	0.512000														31			16		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722209	141722209	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:141722209C>T	uc003vwy.3	+	6	906	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	284	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCTGGCCCATATTTAACA	0.463000														75			15		0	0	1	0	0
LINC00336	401253	broad.mit.edu	37	6	33555423	33555423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:33555423C>T	uc003oew.1	-	1	567	c.565G>A	c.(565-567)Gag>Aag	p.E189K	GGNBP1_uc021ywq.1_Intron|GGNBP1_uc003oev.3_Intron					Homo sapiens long intergenic non-protein coding RNA 336 (LINC00336), non-coding RNA.																		gCAAGGACCTCCTGAGATGAC	0.512000														54			15		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944801	112944801	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:112944801C>T	uc002tho.1	+	7	1309	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	FBLN7_uc010fki.1_Silent_p.S300S|FBLN7_uc010fkj.1_Silent_p.S212S	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	346					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCTGCCTTCCAACCTGAAGA	0.647000														80			62		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76501379	76501379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:76501379C>T	uc010dhp.2	-	30	5077	c.4952G>A	c.(4951-4953)gGg>gAg	p.G1651E		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTCACCTGCCCCGAGAGGTC	0.597000														21			12		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368439	86368439	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:86368439C>T	uc001vll.1	-	1	2664	c.2205G>A	c.(2203-2205)atG>atA	p.M735I	SLITRK6_uc021rla.1_Missense_Mutation_p.M735I	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	735						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTTGTATTTCATATTTGACC	0.373000														123			94		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056552	120056552	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:120056552G>A	uc001ehv.1	+	3	551	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	136					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTCCTACAAGGAAATCATCCA	0.537000														75			189		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18845580	18845580	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:18845580G>A	uc002dfm.3	-	49	8874	c.8511C>T	c.(8509-8511)ccC>ccT	p.P2837P	SMG1_uc010bwb.3_Silent_p.P2697P|SMG1_uc010bwa.3_Silent_p.P1568P	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2837					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S2837S(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACGCTTCCATGGGGTTCGGGA	0.438000														9			6		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090197	34090197	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:34090197G>A	uc001bxm.1	-	34	5724	c.5547C>T	c.(5545-5547)tcC>tcT	p.S1849S	CSMD2_uc001bxn.1_Silent_p.S1809S|CSMD2_uc001bxo.1_Silent_p.S722S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1809	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAAGCCAGGGGACAGGATGG	0.657000														134			21		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427417	119427417	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:119427417C>T	uc001ehl.1	-	7	1744	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	TBX15_uc009whj.1_Missense_Mutation_p.D301N	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGCCGGCCATCACAAGTGTTG	0.557000														36			79		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36489278	36489278	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:36489278G>A	uc002hpz.3	-	9	1914	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	631						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCAGCTTCCAGAACTGGCAGG	0.607000														21			14		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397310	57397310	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:57397310G>A	uc001sml.2	-	1	1545	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	ZBTB39_uc021qzg.1_Silent_p.F464F	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGACCACATGGAAATCTTTGG	0.582000														24			21		0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79896596	79896596	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:79896596G>A	uc001vkz.2	-	21	2841	c.2827_splice	c.e21-1	p.A943_splice	RBM26_uc001vky.2_Splice_Site_p.A914_splice|RBM26_uc001vla.2_Splice_Site_p.A917_splice|RBM26_uc001vkx.2_Splice_Site_p.A653_splice|RBM26_uc010tia.2_Splice_Site_p.A298_splice	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	941	RRM 2.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ATGAACTGCAGCCTAAAATGA	0.303000														25			49		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31374395	31374395	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:31374395C>T	uc002wyc.3	+	4	715	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Missense_Mutation_p.H132Y|DNMT3B_uc002wye.3_Missense_Mutation_p.H132Y|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.H144Y	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	132	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCCGCAACCATGTGGACGA	0.622000														116			18		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820576	35820576	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:35820576G>A	uc010ngt.1	+	1	542	c.263G>A	c.(262-264)aGc>aAc	p.S88N	MAGEB16_uc022bus.1_Missense_Mutation_p.S88N	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	88										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGGCTTCCAGCAATCAAGAA	0.507000														1			8		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852508	63852508	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:63852508C>T	uc001jlt.2	+	9	3742	c.3286C>T	c.(3286-3288)Ccg>Tcg	p.P1096S	ARID5B_uc001jlu.2_Missense_Mutation_p.P853S	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1096					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CTCCAGGCTCCCGGCTGGGTA	0.567000														69			6		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117302341	117302341	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:117302341G>A	uc001prh.1	-	30	5465	c.5463C>T	c.(5461-5463)acC>acT	p.T1821T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1761					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGGAGGTGAGGGTGCGGGCAG	0.627000														106			21		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55497622	55497622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:55497622G>A	uc021vbq.1	+	7	2416	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	NLRP2_uc010yfp.2_Missense_Mutation_p.D746N|NLRP2_uc002qij.3_Missense_Mutation_p.D769N|NLRP2_uc010esp.3_Missense_Mutation_p.D747N|NLRP2_uc010esn.3_Missense_Mutation_p.D745N|NLRP2_uc010eso.3_Missense_Mutation_p.D766N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	769					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGACCAGGATGATATGTTTCC	0.438000														32			14		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415740	19415740	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:19415740C>T	uc010tcj.1	-	0		c.30370G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AGGCTGTTTTCCTAATCTTTC	0.338000														70			27		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29598914	29598914	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:29598914G>A	uc001usl.4	+	0	167	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	27						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAATAATAATGAAAGCATCTT	0.458000														53			17		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155816	106155816	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:106155816C>T	uc011cez.2	+	2	1185	c.780C>T	c.(778-780)tcC>tcT	p.S260S	TET2_uc003hxk.3_Silent_p.S239S|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Silent_p.S239S|TET2_uc010ilp.2_Silent_p.S239S|TET2_uc021xql.1_Silent_p.S239S	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	239					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E259*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTGTGTTTCCATTGCGGTGC	0.448000			"""Mis N, F"""		MDS									12			24		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211856	100211856	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:100211856G>A	uc001pga.3	+	22	3453	c.2949G>A	c.(2947-2949)tgG>tgA	p.W983*	CNTN5_uc021qpb.1_Nonsense_Mutation_p.W983*|CNTN5_uc021qpc.1_Nonsense_Mutation_p.W909*|CNTN5_uc010ruk.2_Nonsense_Mutation_p.W254*	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	983	Fibronectin type-III 4.				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)		ACCTCAGGTGGGAGCAGCAAG	0.428000														73			38		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430366	10430366	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:10430366A>G	uc010coi.3	-	28	4007	c.3879T>C	c.(3877-3879)ttT>ttC	p.F1293F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.F1293F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1293					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F1293V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTGGCGTGAAAACTCACCTG	0.383000														12			22		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759830	196759830	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:196759830G>A	uc002utj.4	-	29	4867	c.4766C>T	c.(4765-4767)tCc>tTc	p.S1589F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1589	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATCTTCTCGGAAAAGAATGC	0.368000														24			14		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711173	41711173	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:41711173C>T	uc002yyq.1	-	6	1832	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	460	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCCCTCCGACGTGATCATCT	0.612000														31			34		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72172100	72172100	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:72172100G>A	uc002atl.4	-	29	6174	c.5701C>T	c.(5701-5703)Cgg>Tgg	p.R1901W	MYO9A_uc002atk.3_Missense_Mutation_p.R696W|MYO9A_uc002atm.1_Missense_Mutation_p.R697W	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1901	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATTCTGCCGAAATTCCTTC	0.378000														24			27		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173630	126173630	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:126173630G>A	uc003vlr.2	-	7	2117	c.1806C>T	c.(1804-1806)atC>atT	p.I602I	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.I602I|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	602					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.V601L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAAAGGTCACGATCACAAAGG	0.483000										HNSCC(24;0.065)				26			10		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103734	52103734	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:52103734G>A	uc001jje.3	-	6	1095	c.141C>T	c.(139-141)ccC>ccT	p.P47P	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Silent_p.P47P|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Silent_p.P47P|SGMS1_uc021pqo.1_Silent_p.P47P|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	53	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.P47T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGCACAAGGGGGGTTTTTTGA	0.512000														6			26		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32190816	32190816	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:32190816C>T	uc010vfv.1	-	6		c.1008G>A								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		ATGGCAAGCTCGTTGTCTTGT	0.502000														18			8		0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87938468	87938468	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:87938468T>A	uc002fkn.1	-	2	439	c.383A>T	c.(382-384)cAa>cTa	p.Q128L		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	128					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		GAAGTGAAATTGCTTCAGTCT	0.532000														81			56		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753976	123753976	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:123753976C>T	uc001pzi.3	-	3	755	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	183						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCTCAGATTCCTTACATTCG	0.423000														41			20		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824237	114824237	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:114824237C>T	uc003ibq.1	-	1	1881	c.993G>A	c.(991-993)caG>caA	p.Q331Q	ARSJ_uc010imu.1_Silent_p.Q331Q|ARSJ_uc010imv.1_Silent_p.Q159Q	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	331						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CTGCCGTAGGCTGGCCACCAT	0.468000														66			12		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760381	167760381	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:167760381C>T	uc002udx.3	+	1	478	c.389C>T	c.(388-390)cCa>cTa	p.P130L	XIRP2_uc010fpn.3_Missense_Mutation_p.P130L|XIRP2_uc010fpo.3_Missense_Mutation_p.P130L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAACAAACCAGCTGAGTAC	0.458000														55			34		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294721	124294721	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:124294721C>T	uc010sak.2	-	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCTGATAATCCCACAAGGAT	0.473000														26			23		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444230	15444230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:15444230G>A	uc003gno.3	+	2	957	c.698G>A	c.(697-699)gGa>gAa	p.G233E	C1QTNF7_uc011bxb.2_Missense_Mutation_p.G226E|C1QTNF7_uc003gnp.3_Missense_Mutation_p.G226E	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	226	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GCCAACACAGGAAACCATGAT	0.458000														48			93		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430961	37430961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:37430961G>A	uc021ppc.1	+	6	1067	c.968G>A	c.(967-969)aGa>aAa	p.R323K	ANKRD30A_uc001iza.1_Missense_Mutation_p.R323K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	379						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCAAAAGGAAGACCTAGGAAG	0.428000														35			44		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17753740	17753740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:17753740C>T	uc021uqk.1	-	19	2425	c.2383G>A	c.(2383-2385)Ggt>Agt	p.G795S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	796					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGGATGGCACCCGACACGGCA	0.507000														11			5		0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4496433	4496433	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:4496433G>A	uc002fyf.1	+	2	764	c.697G>A	c.(697-699)Gag>Aag	p.E233K	SMTNL2_uc002fye.2_Missense_Mutation_p.E89K	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	233										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AAGCCCCAGCGAGGTCATCAC	0.652000														10			29		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73043728	73043728	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:73043728C>T	uc004ebn.2	+	0		c.31689C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		ATTTTTATATCCTAGGGCATG	0.358000														3			12		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516124	78516124	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:78516124C>T	uc001syp.3	+	15	4327	c.4154C>T	c.(4153-4155)tCc>tTc	p.S1385F	NAV3_uc001syo.3_Missense_Mutation_p.S1385F|NAV3_uc010sub.2_Missense_Mutation_p.S885F|NAV3_uc009zsf.3_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1385	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATCATGGCTCCTTGTCTGGA	0.557000										HNSCC(70;0.22)				36			52		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138000072	138000072	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:138000072C>T	uc002tva.1	+	8	2103	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.L591L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGTTTTCTCCCATGCAAAA	0.473000														30			7		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390750	197390750	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:197390750C>T	uc001gtz.3	+	5	2001	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	CRB1_uc010poz.2_Missense_Mutation_p.P529S|CRB1_uc009wza.3_Missense_Mutation_p.P486S|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.P598S|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.P79S|CRB1_uc001gub.1_Missense_Mutation_p.P247S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	598	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCTCCTACTCCACTTGAAAG	0.448000														95			20		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336119	124336119	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:124336119C>T	uc001lgk.1	+	6	594	c.488C>T	c.(487-489)cCc>cTc	p.P163L	DMBT1_uc001lgl.1_Missense_Mutation_p.P163L|DMBT1_uc001lgm.1_Missense_Mutation_p.P163L|DMBT1_uc021qaf.1_Missense_Mutation_p.P163L|DMBT1_uc021qag.1_Missense_Mutation_p.P163L|DMBT1_uc021qah.1_Missense_Mutation_p.P163L|DMBT1_uc009xzz.1_Missense_Mutation_p.P163L|DMBT1_uc010qtx.1_Missense_Mutation_p.P163L|DMBT1_uc009yaa.1_Missense_Mutation_p.P15L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	163	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCTCAGGACCCATTGCCCTG	0.587000														126			6		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380238	114380238	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:114380238A>G	uc001eds.3	-	12	1914	c.1784T>C	c.(1783-1785)cTa>cCa	p.L595P	PTPN22_uc021orx.1_Missense_Mutation_p.L595P|PTPN22_uc009wgq.3_Missense_Mutation_p.L540P|PTPN22_uc021ory.1_Missense_Mutation_p.L571P|PTPN22_uc010owo.2_Missense_Mutation_p.L351P|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.L595P|PTPN22_uc009wgs.2_Missense_Mutation_p.L468P|PTPN22_uc001edu.2_Missense_Mutation_p.L595P	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	595					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGTTCAATAGTGAGGAAAT	0.333000														19			59		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63410327	63410327	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:63410327G>A	uc022byb.1	-	0	2840	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	FAM123B_uc004dvo.3_Missense_Mutation_p.S947F	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	947					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						AGTATAGAGGGAAAGGGGACT	0.587000														7			14		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941602	144941602	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:144941602G>A	uc003zaa.1	-	0	5833	c.5820C>T	c.(5818-5820)ctC>ctT	p.L1940L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1940						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGGTCCAGGAGGAACCCGG	0.642000														64			51		0	0	1	0	0
PRR18	285800	broad.mit.edu	37	6	166720853	166720853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:166720853C>T	uc003quw.1	-	0	1019	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_175922	NP_787118	Q8N4B5	PRR18_HUMAN	Homo sapiens proline rich 18 (PRR18), mRNA.	260						endoplasmic reticulum				haematopoietic_and_lymphoid_tissue(2)|lung(1)	3		Breast(66;2.35e-05)|Ovarian(120;0.0606)|Prostate(117;0.0959)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-19)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;7.96e-05)		ACCAGGCCCTCGTCCACCGCC	0.741000														6			9		0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41768146	41768146	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:41768146G>A	uc001uxw.1	-	0	557	c.248C>T	c.(247-249)tCc>tTc	p.S83F	AK056182_uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 7 (KBTBD7), mRNA.	83	BTB.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGATTGCAGGAAAAGAGGCG	0.607000														66			40		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86286971	86286971	+	Silent	SNP	C	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:86286971C>A	uc002blv.1	+	35	8477	c.8307C>A	c.(8305-8307)gcC>gcA	p.A2769A	AKAP13_uc002blu.1_Silent_p.A2773A|AKAP13_uc002blw.1_Silent_p.A1234A|AKAP13_uc002blx.1_Silent_p.A1014A	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2769	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCACCTCTGCCTCTACCCGCC	0.522000														29			43		5.78141e-17	5.84937e-17	1	1	0
COL21A1	81578	broad.mit.edu	37	6	55925714	55925714	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:55925714C>T	uc003pcs.3	-	25	2559	c.2327G>A	c.(2326-2328)gGa>gAa	p.G776E	COL21A1_uc010jzz.3_Missense_Mutation_p.G161E|COL21A1_uc011dxg.2_Missense_Mutation_p.G149E|COL21A1_uc011dxh.2_Missense_Mutation_p.G161E|COL21A1_uc003pcr.3_Missense_Mutation_p.G133E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	776	Collagen-like 5.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACCTGGGGGTCCCTGAGGACC	0.493000														17			18		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137500059	137500059	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:137500059G>A	uc003lcf.1	-	12	1830	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	BRD8_uc011cyl.2_Missense_Mutation_p.P371L|BRD8_uc021yea.1_Missense_Mutation_p.P482L|BRD8_uc003lcg.3_Missense_Mutation_p.P665L|BRD8_uc003lci.3_Missense_Mutation_p.P595L|BRD8_uc011cym.2_Missense_Mutation_p.P576L|BRD8_uc011cyn.1_Missense_Mutation_p.P551L	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	592					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTTCAATGGGATTTGAGCC	0.408000														50			31		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181725162	181725162	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:181725162C>T	uc009wxt.3	+	28	4255	c.4060C>T	c.(4060-4062)Cac>Tac	p.H1354Y	CACNA1E_uc001gow.3_Missense_Mutation_p.H1354Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.H1335Y|CACNA1E_uc001gox.1_Missense_Mutation_p.H580Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1354					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCATGAATTCCACTACGACAA	0.502000														30			9		0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870846	129870846	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:129870846G>A	uc004bqr.1	-	1	665	c.165C>T	c.(163-165)acC>acT	p.T55T	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	55					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGAAGGTGTAGGTGCACTTGT	0.592000														6			26		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991293	144991293	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:144991293G>A	uc003zaf.1	-	31	13277	c.13107C>T	c.(13105-13107)ttC>ttT	p.F4369F	PLEC_uc003zab.1_Silent_p.F4232F|PLEC_uc003zac.1_Silent_p.F4236F|PLEC_uc003zad.2_Silent_p.F4232F|PLEC_uc003zae.1_Silent_p.F4200F|PLEC_uc003zag.1_Silent_p.F4210F|PLEC_uc003zah.2_Silent_p.F4218F|PLEC_uc003zaj.2_Silent_p.F4259F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4369	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCATGTCGGCGAACTCGGTGA	0.667000														53			34		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814345	123814345	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:123814345G>A	uc010sab.2	-	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCTCCAGGAAGGAGAAATTCC	0.493000														52			33		0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45973110	45973110	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:45973110C>T	uc009vxv.3	+	1	313	c.164C>T	c.(163-165)aCg>aTg	p.T55M		NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC), mRNA.	55							cobalamin binding	p.T55T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACTCAGCACGCCTGCCATG	0.587000														74			4		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116014795	116014795	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:116014795C>T	uc001lbl.1	+	3	570	c.249C>T	c.(247-249)atC>atT	p.I83I	VWA2_uc001lbk.1_Silent_p.I83I|VWA2_uc009xyf.1_Intron	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	83	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GTCTGGACATCAGCCCCGAGA	0.517000														34			58		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282270	23282270	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:23282270C>T	uc001wgr.4	-	1	476	c.338G>A	c.(337-339)gGa>gAa	p.G113E	SLC7A7_uc001wgs.4_Missense_Mutation_p.G113E|SLC7A7_uc001wgt.4_Missense_Mutation_p.G113E|SLC7A7_uc001wgu.4_Missense_Mutation_p.G113E|SLC7A7_uc001wgv.4_Missense_Mutation_p.G113E	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	113					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGCAAGGAATCCTCCAAAGGC	0.537000														33			82		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701157	17701157	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:17701157C>T	uc002grm.3	+	2	5364	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	RAI1_uc002grn.1_Missense_Mutation_p.S1632F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1632	Ser-rich.					cytoplasm|nucleus	zinc ion binding	p.A1631T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		tcctctgcctcctcttcctca	0.647000														30			43		0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72400827	72400827	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:72400827G>A	uc001dfw.3	-	1	572	c.344C>T	c.(343-345)cCa>cTa	p.P115L	NEGR1_uc001dfv.3_5'UTR|NEGR1_uc010oqs.2_Missense_Mutation_p.P115L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	115	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACACGTGTATGGGCCATCATC	0.418000														20			33		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173702945	173702945	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:173702945A>T	uc001gjc.3	+	2	296	c.117A>T	c.(115-117)caA>caT	p.Q39H	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.Q21H|KLHL20_uc001gjd.3_Missense_Mutation_p.Q39H	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	39					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGGTTCCCCAACCTGCCCGCA	0.527000														29			86		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4553335	4553335	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:4553335G>A	uc001qmr.1	-	1	458	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	138					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	p.F138F(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCATGGCAACGAAGAGGGCAC	0.517000														12			19		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56561889	56561889	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56561889C>T	uc001skb.3	-	24	2818	c.2712G>A	c.(2710-2712)cgG>cgA	p.R904R	SMARCC2_uc001skd.3_Silent_p.R935R|SMARCC2_uc001ska.3_Silent_p.R935R|SMARCC2_uc001skc.3_Silent_p.R934R|SMARCC2_uc010sqf.2_Silent_p.R824R	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	904					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTCAAAGTGCCGAAGTTTGA	0.527000														73			17		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56231153	56231153	+	Silent	SNP	G	A	A	rs139275281		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:56231153G>A	uc001sib.3	-	8	1315	c.1194C>T	c.(1192-1194)tcC>tcT	p.S398S	MMP19_uc001sia.3_Silent_p.S112S|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	398	Hemopexin-like 3.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GCCAGTACCCGGAGCCCTGGA	0.612000														35			40		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31963866	31963866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:31963866C>T	uc011doy.2	+	25	3416	c.3365C>T	c.(3364-3366)cCa>cTa	p.P1122L	C4B_uc011doz.2_Missense_Mutation_p.P1122L	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1122					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GACCCCTGTCCAGTGTTAGAC	0.622000														137			31		0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14688711	14688711	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:14688711A>G	uc001rcc.1	-	5	887	c.726T>C	c.(724-726)ctT>ctC	p.L242L		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	242					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AGTGAGCAAAAAGGATGTTCT	0.428000														54			12		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4409122	4409122	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:4409122G>A	uc001qmo.3	+	4	1122	c.817G>A	c.(817-819)Gat>Aat	p.D273N		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	273					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CAAGTCGGAGGATGAACTGGA	0.562000			T	IGL@	"""NHL,CLL"""									26			4		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424618	125424618	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:125424618G>A	uc022bmz.1	+	0	624	c.624G>A	c.(622-624)atG>atA	p.M208I		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTGTCATAATGACCCCGTTTT	0.403000														29			54		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49457098	49457098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:49457098C>T	uc001jgi.3	-	2	606	c.275G>A	c.(274-276)gGa>gAa	p.G92E	FRMPD2_uc001jgh.3_Missense_Mutation_p.G83E|FRMPD2_uc001jgj.3_Missense_Mutation_p.G83E	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	92	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTCACTCTGTCCCTGTAGCAG	0.562000														8			8		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379612	42379612	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:42379612C>T	uc001zox.3	-	2	236	c.141G>A	c.(139-141)gtG>gtA	p.V47V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	47	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCTGTAGGATCACGTAAGGGT	0.542000														72			62		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471302	128471302	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:128471302G>A	uc002tpg.2	-	17	3362	c.3163C>T	c.(3163-3165)Ccc>Tcc	p.P1055S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1055					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.P1055S(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGATCAGGGGGAAACGGAGGC	0.652000														100			62		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640463	156640463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:156640463C>T	uc001fpq.3	-	3	3650	c.3517G>A	c.(3517-3519)Gag>Aag	p.E1173K	NES_uc021pbh.1_Missense_Mutation_p.E91K	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1173	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTGACTCCTCCCTACCCTCC	0.647000														125			19		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188467	98188467	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:98188467G>A	uc003dsm.3	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T15K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCACAGGATTTACAGAT	0.388000														78			48		0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132063785	132063785	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:132063785C>T	uc010htp.2	+	6	753	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ACPP_uc003eon.3_Silent_p.F188F|ACPP_uc003eop.4_Silent_p.F221F	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	221						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TTCACAATTTCACTTTACCCT	0.398000														51			32		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94519598	94519599	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:94519598_94519599CC>TT	uc004arj.2	-	2	617_618	c.418_419GG>AA	c.(418-420)ggg>AAg	p.G140K	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Missense_Mutation_p.G140K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	140	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity	p.N139K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTTCATCCCGTTGGTGGCC	0.559000														18			33		0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68289196	68289196	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:68289196C>T	uc002evr.3	+	3	498	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	PLA2G15_uc010vld.2_Missense_Mutation_p.H139Y|PLA2G15_uc010vle.2_Silent_p.S86S|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	139					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTCCTATTTCCACACCATGGT	0.557000														23			20		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24509190	24509190	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:24509190G>A	uc002rfe.2	-	15	2012	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L	ITSN2_uc002rff.2_Missense_Mutation_p.S585L|ITSN2_uc002rfg.3_Missense_Mutation_p.S585L|ITSN2_uc010eyd.2_Missense_Mutation_p.S610L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	585					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTTCTAATGATTTTTTATG	0.323000														16			18		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383811	12383811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:12383811G>A	uc010xmj.2	-	4	1608	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.P420L	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GCATTCATAGGGTTTCTCTCC	0.433000														30			13		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778514	110778514	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:110778514C>T	uc001tqk.4	+	13	2375	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	ATP2A2_uc001tql.4_Silent_p.I604I|ATP2A2_uc021rdt.1_Silent_p.I452I	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	604					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTCCGAGAATCGAGGTGGCCT	0.527000														75			27		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778223	43778223	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:43778223C>T	uc001ciu.3	+	11	2055	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	TIE1_uc010okd.2_Silent_p.T626T|TIE1_uc010oke.2_Silent_p.T581T|TIE1_uc009vwq.3_Silent_p.T582T|TIE1_uc010okf.1_Silent_p.T271T|TIE1_uc010okg.2_Silent_p.T271T	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	626	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCACTGCACCCTCCTGGGCC	0.682000														83			10		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170058150	170058150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:170058150C>T	uc002ues.3	-	43	8653	c.8440G>A	c.(8440-8442)Gag>Aag	p.E2814K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2814	LDL-receptor class A 18.				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)	CAATTTTTCTCATCTGAAGTG	0.368000														32			19		0	0	1	0	0
NEDD8-MDP1	100528064	broad.mit.edu	37	14	24701578	24701578	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:24701578C>T	uc021rrm.1	-	1	1	c.-102_splice	c.e1-1		NEDD8-MDP1_uc001wno.2_Splice_Site|NEDD8-MDP1_uc001wnn.2_Splice_Site|NEDD8-MDP1_uc001wnp.2_Splice_Site|GMPR2_uc001wnq.1_5'Flank|GMPR2_uc001wnu.2_5'Flank|GMPR2_uc001wnr.3_5'Flank|GMPR2_uc001wns.3_5'Flank|GMPR2_uc001wnv.3_5'Flank|GMPR2_uc010alk.1_5'Flank|GMPR2_uc001wnw.3_5'Flank|GMPR2_uc001wnx.3_5'Flank|GMPR2_uc010all.3_5'Flank|GMPR2_uc010toe.1_5'Flank	NM_001199823	NP_001186752			Homo sapiens NEDD8-MDP1 readthrough (NEDD8-MDP1), mRNA.																		ACTTCTACTTCCGGGTCACTG	0.627000														1			6		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682615	218682615	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:218682615G>A	uc002vgt.2	-	23	4526	c.4128C>T	c.(4126-4128)gcC>gcT	p.A1376A	TNS1_uc002vgr.2_Silent_p.A1363A|TNS1_uc002vgs.2_Silent_p.A1355A|TNS1_uc010zjv.1_Silent_p.A1355A	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1376						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTTGCCGGAAGGCTGCGGAGT	0.647000														26			9		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853873	51853873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:51853873G>A	uc001rys.1	+	7	1172	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	SLC4A8_uc010sni.2_Missense_Mutation_p.E279K|SLC4A8_uc001rym.3_Missense_Mutation_p.E279K|SLC4A8_uc001ryn.3_Missense_Mutation_p.E279K|SLC4A8_uc001ryo.2_Missense_Mutation_p.E279K|SLC4A8_uc001ryp.1_Missense_Mutation_p.E279K|SLC4A8_uc010snj.2_Missense_Mutation_p.E359K|SLC4A8_uc001ryq.4_Missense_Mutation_p.E332K|SLC4A8_uc001ryr.3_Missense_Mutation_p.E332K|SLC4A8_uc010snk.2_Missense_Mutation_p.E279K	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	332					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGGCCTAACAGAAGTGCCAAT	0.443000														112			26		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84302256	84302256	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:84302256C>T	uc021zcf.1	-	20	1877	c.1847_splice	c.e20-1	p.V616_splice	SNAP91_uc011dzd.2_Splice_Site_p.V119_splice|SNAP91_uc003pka.3_Splice_Site_p.V614_splice|SNAP91_uc011dze.2_Splice_Site_p.V614_splice|SNAP91_uc003pkc.3_Intron|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Intron	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	616					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)		CAAATGCATCCACTGCAGTGA	0.493000														15			8		0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155207281	155207281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:155207281G>A	uc001fjh.3	-	6	1016	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	GBA_uc021pau.1_Intron|GBA_uc010pfx.2_Missense_Mutation_p.P235S|GBA_uc010pfw.2_Missense_Mutation_p.P171S|GBA_uc001fjl.3_Missense_Mutation_p.P284S|GBA_uc001fjk.3_Missense_Mutation_p.P284S|GBA_uc010pfy.2_Missense_Mutation_p.P197S|GBA_uc009wqk.2_Missense_Mutation_p.P197S	NM_000157	NP_001165282	P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid (GBA), transcript variant 1, mRNA.	284					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of MAP kinase activity|negative regulation of interleukin-6 production|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding	p.Y283*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CACTGGAAGGGGTATCCACTC	0.547000									Gaucher disease type I					43			6		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981250	7981250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:7981250C>T	uc001mfv.1	-	1	1926	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	637							ATP binding	p.E637K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAGAAGCTTCCTTTTGTGTT	0.393000														31			9		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26484631	26484631	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:26484631G>A	uc001mqt.4	+	3	513	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	ANO3_uc010rdr.2_Missense_Mutation_p.R107Q|ANO3_uc010rds.2_5'UTR	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	123						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACTTATGACCGATCTCGTCTC	0.299000														19			8		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32768346	32768346	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:32768346G>A	uc010ezu.3	+	61	12464	c.12330G>A	c.(12328-12330)aaG>aaA	p.K4110K		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4110					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCAGGAAAAGCCGAAGGATA	0.428000														41			32		0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032060	26032060	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:26032060G>A	uc003nfs.1	-	0	229	c.229C>T	c.(229-231)Caa>Taa	p.Q77*		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	77					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.A76A(1)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTGAAGTCTTGGGCGATTTCT	0.597000														76			77		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35833953	35833953	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:35833953G>A	uc011axy.2	+	17	2327	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V	ARPP21_uc003cga.3_Silent_p.V685V|ARPP21_uc003cgb.3_Silent_p.V704V|ARPP21_uc003cgf.3_Silent_p.V540V|ARPP21_uc003cgg.3_Silent_p.V227V	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	704	Gln-rich.					cytoplasm	nucleic acid binding	p.V704M(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTCAGAACGTGATAAATAACC	0.468000														68			63		0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1559299	1559299	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:1559299C>T	uc001agg.3	+	3	783	c.738C>T	c.(736-738)gaC>gaT	p.D246D	MIB2_uc001agh.3_Silent_p.D232D|MIB2_uc001agi.3_Silent_p.D246D|MIB2_uc001agj.3_Silent_p.D30D|MIB2_uc001agk.3_Silent_p.D246D|MIB2_uc001agl.2_Silent_p.D145D|MIB2_uc001agm.3_Silent_p.D131D|MIB2_uc010nyq.2_Silent_p.D145D|MIB2_uc009vkh.3_Silent_p.D30D|MIB2_uc001agn.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	189	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGCCTTCGACCGCTACGAGA	0.687000														7			13		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310278	124310278	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:124310278G>A	uc010sal.2	-	0	704	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAAGGCTTTGGACCTGCCCTC	0.473000														69			52		0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111749855	111749855	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:111749855A>T	uc001pmc.4	-	0	327	c.2T>A	c.(1-3)aTg>aAg	p.M1K	ALG9_uc010rwo.2_5'UTR|FDXACB1_uc009yyi.3_5'UTR|C11orf1_uc001pmd.3_5'Flank|C11orf1_uc001pme.3_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	1					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						CCGAGGGGCCATGGCCTCCAC	0.622000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			19		0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47143407	47143407	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:47143407A>G	uc002eer.2	-	6	1283	c.870T>C	c.(868-870)acT>acC	p.T290T	NETO2_uc002eeq.2_Silent_p.T63T|NETO2_uc010vgf.2_Silent_p.T283T	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	290	CUB 2.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				CCACAAAGGAAGTAAAGAGCA	0.363000										HNSCC(25;0.065)				40			24		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18633644	18633644	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:18633644G>A	uc003sui.3	+	4	697	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	HDAC9_uc003sue.3_Missense_Mutation_p.R216Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R216Q|HDAC9_uc003suh.3_Missense_Mutation_p.R216Q|HDAC9_uc003suj.3_Missense_Mutation_p.R219Q|HDAC9_uc011jya.2_Missense_Mutation_p.R258Q|HDAC9_uc003sua.1_Missense_Mutation_p.R238Q|HDAC9_uc003sud.2_Missense_Mutation_p.R216Q|HDAC9_uc011jyc.2_Missense_Mutation_p.R219Q|HDAC9_uc011jyb.2_Missense_Mutation_p.R216Q|HDAC9_uc003suf.2_Missense_Mutation_p.R247Q|HDAC9_uc010kud.2_Missense_Mutation_p.R219Q|HDAC9_uc011jye.2_Missense_Mutation_p.R188Q|HDAC9_uc011jyf.2_Missense_Mutation_p.R183Q|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	216	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCCCCCTTCGAAAAACTGGT	0.418000														32			17		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428502	190428502	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:190428502G>A	uc002uqp.4	-	6	1561	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	404					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCTTCAAAAGGAGAAACGGAC	0.428000														43			31		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429959	10429959	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:10429959C>T	uc010coi.3	-	29	4272	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1382K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1382					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Y1381C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGTCCGTCTCGTATTTGGTC	0.532000														35			65		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32011620	32011620	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:32011620G>A	uc003nzl.2	-	34	11632	c.11430C>T	c.(11428-11430)ctC>ctT	p.L3810L	TNXB_uc003nzg.1_Silent_p.L241L|TNXB_uc003nzh.1_Silent_p.L279L	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3857	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCAGCCCCTGGAGTTTCTGGG	0.627000														135			61		0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62750764	62750764	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:62750764G>A	uc010wqc.2	-	8		c.1850C>T								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		TGGCTCTTAGGGCAGGAGTCT	0.448000														64			38		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1269557	1269557	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:1269557G>A	uc003boz.3	+	3	505	c.238G>A	c.(238-240)Gat>Aat	p.D80N	CNTN6_uc010hbo.2_Missense_Mutation_p.D75N|CNTN6_uc011asj.2_Missense_Mutation_p.D8N|CNTN6_uc003bpa.3_Missense_Mutation_p.D80N	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	80	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.L79L(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTACAGGTTGGATGGAGGCAG	0.413000														41			27		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373497	126373497	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:126373497C>T	uc003ifj.4	+	8	11326	c.11326C>T	c.(11326-11328)Ccc>Tcc	p.P3776S	FAT4_uc011cgp.2_Missense_Mutation_p.P2074S|FAT4_uc003ifi.1_Missense_Mutation_p.P1254S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3776					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTATGTGAATCCCAGTGGCGT	0.463000														31			53		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086445	55086445	+	Silent	SNP	G	A	A	rs141931276		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:55086445G>A	uc010ern.3	+	4	1069	c.600G>A	c.(598-600)tcG>tcA	p.S200S	LILRA1_uc002qgg.4_Silent_p.S200S|LILRA1_uc002qgf.3_Silent_p.S200S|LILRA1_uc010yfe.1_Silent_p.S200S|LILRA1_uc010yff.1_Silent_p.S188S|LILRA1_uc010ero.3_Silent_p.S188S|LILRA1_uc010yfg.1_Silent_p.S200S			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	202	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTTATGACTCGAACTCTCCCT	0.577000														94			38		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123892199	123892199	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:123892199C>T	uc001lfv.3	+	5	6009	c.5649C>T	c.(5647-5649)tcC>tcT	p.S1883S	TACC2_uc001lfw.3_Silent_p.S74S|TACC2_uc009xzx.3_Silent_p.S1883S|TACC2_uc010qtv.2_Silent_p.S1932S|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1883						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGCCTCTTCCTACCACGGTG	0.582000														34			17		0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287272	202287272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:202287272C>T	uc001gxu.3	+	17	1841	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	LGR6_uc001gxv.3_Missense_Mutation_p.S562F|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.S475F	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	614						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACTGGCATTTCCTGTGGCCTT	0.637000														12			35		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113270852	113270852	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:113270852C>T	uc001pny.3	+	7	2255	c.2161C>T	c.(2161-2163)Cag>Tag	p.Q721*		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	721							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCTGGACGTCCAGGATGGAGT	0.652000														19			8		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61946604	61946604	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:61946604C>T	uc001jky.3	-	16	2292	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	ANK3_uc010qih.2_Missense_Mutation_p.E635K|ANK3_uc001jkz.4_Missense_Mutation_p.E646K|ANK3_uc001jlb.1_Missense_Mutation_p.E181K|ANK3_uc001jlc.1_Missense_Mutation_p.E313K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	652					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCACCATATTCCAGCAGAGTT	0.537000														12			25		0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5359380	5359380	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:5359380G>A	uc002gca.3	-	4	1173	c.972C>T	c.(970-972)gtC>gtT	p.V324V	DHX33_uc002gbz.3_Silent_p.V95V|DHX33_uc002gcb.3_Silent_p.V151V|DHX33_uc010clf.3_Missense_Mutation_p.P197S	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	324	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACAGAGGAAGGACCAGCATCG	0.602000														8			18		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615073	158615073	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:158615073C>T	uc001fst.1	-	28	4298	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1367					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTTTTTTTCAATTTCAGGG	0.507000														85			18		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41459205	41459205	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:41459205C>T	uc002yyq.1	-	21	4312	c.3860G>A	c.(3859-3861)cGa>cAa	p.R1287Q	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1287	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTCAGGATTCGTGCAGGAGC	0.483000														55			45		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183695342	183695342	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:183695342G>A	uc003fmg.3	-	9	1532	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.S456F	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	456	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTGAGAGGGACTTTACTGA	0.488000														38			22		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848276	123848276	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:123848276G>A	uc001pzm.1	-	0	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAAGAGGAGGAAGAAGAGGC	0.517000														27			23		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109939175	109939175	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:109939175G>A	uc001top.3	+	13	1722	c.1119_splice	c.e13-1	p.G373_splice	UBE3B_uc001toq.3_Splice_Site_p.G373_splice|UBE3B_uc001too.1_Splice_Site|UBE3B_uc009zvj.1_Splice_Site_p.G373_splice	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	373					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCTCTCCTAGCCTTAACGAG	0.542000														130			91		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294238	31294238	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:31294238G>A	uc003jhe.2	+	2	758	c.398G>A	c.(397-399)aGa>aAa	p.R133K	CDH6_uc003jhd.2_Missense_Mutation_p.R133K	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTATAAACAGAAGGACAGGG	0.458000														121			40		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16200609	16200609	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:16200609C>T	uc010bvi.3	+	20	2925	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	ABCC1_uc010bvj.3_Missense_Mutation_p.S858F|ABCC1_uc010bvk.3_Missense_Mutation_p.S861F|ABCC1_uc010bvl.3_Missense_Mutation_p.S917F|ABCC1_uc010bvm.3_Missense_Mutation_p.S802F|ABCC1_uc002del.4_Missense_Mutation_p.S811F	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	917					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTCAGCAGCTCCTCCTCCTAT	0.582000														46			15		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13361447	13361447	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:13361447G>A	uc003bxv.1	-	36	5282	c.5199C>T	c.(5197-5199)ttC>ttT	p.F1733F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1733					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTCCTTTGCGAATGCCAGCA	0.627000														50			30		0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159206584	159206584	+	Missense_Mutation	SNP	G	A	A	rs11550707		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:159206584G>A	uc003qrt.4	-	3	439	c.224C>T	c.(223-225)cCc>cTc	p.P75L	EZR_uc011efs.2_Missense_Mutation_p.P43L|EZR_uc003qru.4_Missense_Mutation_p.P75L	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	75	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GAACTGGAGGGGATTCTCCTT	0.542000			T	ROS1	NSCLC									55			20		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91773462	91773462	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:91773462C>T	uc010aty.3	-	17	3269	c.3115G>A	c.(3115-3117)Gag>Aag	p.E1039K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1039					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCCCAGGCCTCCTTCCCCTGG	0.647000														10			35		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620325	7620325	+	Missense_Mutation	SNP	G	A	A	rs138514405		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:7620325G>A	uc003bqm.2	+	7	2006	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.D578N|GRM7_uc003bql.2_Missense_Mutation_p.D578N|GRM7_uc003bqn.1_Missense_Mutation_p.D161N|GRM7_uc010hch.1_Missense_Mutation_p.D89N	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	578					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CGGATGCCAGGATATTCCCAT	0.522000														74			44		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002861	52002861	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:52002861C>T	uc002pwx.1	-	2	974	c.918G>A	c.(916-918)acG>acA	p.T306T	SIGLEC12_uc002pww.1_Silent_p.T188T|SIGLEC12_uc010eoy.1_Silent_p.T33T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	306	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.T306M(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCAGGTGATCGTGGGGGGCG	0.667000														35			28		0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863790	74863790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:74863790C>T	uc003hhk.3	-	2	383	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	89					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.E89K(2)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AGACAAATTTCCTTCCCGTTC	0.423000														29			56		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26501043	26501043	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:26501043C>T	uc003xfb.2	+	8	1331	c.900C>T	c.(898-900)gcC>gcT	p.A300A	DPYSL2_uc003xfa.3_Silent_p.A405A|DPYSL2_uc011lag.2_Silent_p.A300A|DPYSL2_uc011lah.2_Silent_p.A264A	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	300					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGCTGCTGCCTTTGTCACCT	0.557000														44			21		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108496528	108496528	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:108496528G>A	uc010ywk.2	+	20	5111	c.5029G>A	c.(5029-5031)Gag>Aag	p.E1677K	RGPD4_uc002tdu.3_Missense_Mutation_p.E864K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1677					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCGGGAAGCAGAGGCAACCAG	0.453000														140			31		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183775571	183775571	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:183775571A>C	uc001gqm.3	+	2	656	c.195A>C	c.(193-195)aaA>aaC	p.K65N	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|RGL1_uc001gqo.3_Missense_Mutation_p.K30N|RGL1_uc010poi.2_Missense_Mutation_p.K30N	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	30	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCACCCTCAAAAGAGTCCAGA	0.478000														90			21		0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46675802	46675802	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:46675802G>A	uc010jzf.3	-	9	1235	c.966C>T	c.(964-966)ttC>ttT	p.F322F	PLA2G7_uc021zae.1_Silent_p.F322F	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	322					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CAGGATATTGGAAATATTCAG	0.343000														32			10		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489465	20489465	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:20489465C>T	uc001ytf.1	+	2		c.453C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		CAACTTCATTCCTAAAGTCTG	0.423000														44			4		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86257040	86257040	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:86257040G>A	uc003pkr.3	-	10	1181	c.988C>T	c.(988-990)Cca>Tca	p.P330S	SNX14_uc003pkp.3_Missense_Mutation_p.P193S|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.P278S|SNX14_uc003pks.3_Missense_Mutation_p.P286S|SNX14_uc003pkt.3_Missense_Mutation_p.P330S	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	330					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTTACAGATGGCTTTTTATTT	0.313000														16			18		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750188	140750188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140750188C>T	uc003ljw.2	+	0	227	c.227C>T	c.(226-228)aCc>aTc	p.T76I	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_uc011dat.2_Missense_Mutation_p.T76I	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCTTTACCGTGAGCCCC	0.512000														118			79		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27284167	27284167	+	Missense_Mutation	SNP	C	T	T	rs140304729		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:27284167C>T	uc002ylz.3	-	13	1995	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	APP_uc011acg.2_Missense_Mutation_p.E107K|APP_uc010glk.3_Missense_Mutation_p.E575K|APP_uc002yma.3_Missense_Mutation_p.E580K|APP_uc011ach.2_Missense_Mutation_p.E543K|APP_uc021whz.1_Missense_Mutation_p.E599K|APP_uc021wia.1_Missense_Mutation_p.E580K|APP_uc002ymb.3_Missense_Mutation_p.E524K|APP_uc010glj.3_Missense_Mutation_p.E468K|APP_uc021wib.1_Missense_Mutation_p.E524K|APP_uc011aci.2_Missense_Mutation_p.E489K	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	599					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GTTTTCGTTTCGGTCAAAGAT	0.502000														35			11		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:55638912C>T	uc003pcq.3	-	3	1674	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	BMP5_uc011dxf.2_Missense_Mutation_p.R321Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R321Q(2)|p.R321*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478000														35			52		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14803013	14803013	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:14803013C>T	uc003byy.3	+	14	2838	c.2386C>T	c.(2386-2388)Cgt>Tgt	p.R796C	C3orf20_uc003byz.3_Missense_Mutation_p.R674C|C3orf20_uc003bza.3_Missense_Mutation_p.R674C|C3orf20_uc003bzb.1_Missense_Mutation_p.R297C|C3orf20_uc011avj.2_Missense_Mutation_p.R123C	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	796						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TTTTGGGGGCCGTGTTTTGAA	0.498000														36			17		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101608869	101608869	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:101608869G>A	uc003yjr.3	-	9	1127	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	SNX31_uc011lha.2_Missense_Mutation_p.L121F|SNX31_uc011lhb.2_Missense_Mutation_p.L227F	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	326					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATACTCACAAGGAAAGTGACC	0.488000														36			18		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333048	18333048	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:18333048G>A	uc010xqc.2	-	1	808	c.328C>T	c.(328-330)Cca>Tca	p.P110S	PDE4C_uc002nik.4_Missense_Mutation_p.P110S|PDE4C_uc002nil.4_Missense_Mutation_p.P110S|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_Missense_Mutation_p.P4S|PDE4C_uc002nii.4_Missense_Mutation_p.P78S|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.P110S	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	110					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.P110S(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGCGGGACTGGAGCCTGCATA	0.622000														24			29		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559048	228559048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:228559048C>T	uc009xez.1	+	93	20613	c.20569C>T	c.(20569-20571)Cca>Tca	p.P6857S	OBSCN_uc001hsr.1_Missense_Mutation_p.P1486S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6857					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGTGCCGGGCCACCGGCCGC	0.756000														11			3		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39854048	39854048	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:39854048C>T	uc021olw.1	+	21	10854	c.10854C>T	c.(10852-10854)gcC>gcT	p.A3618A	MACF1_uc021ols.1_Silent_p.A3116A|MACF1_uc001cdc.2_Silent_p.A3095A|MACF1_uc021olt.1_Silent_p.A3116A|MACF1_uc001cda.1_Silent_p.A3003A	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5183					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACATAGAGGCCTCTGAAGCAG	0.473000														15			25		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082662	114082662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:114082662C>T	uc004epu.1	+	4	1174	c.446C>T	c.(445-447)tCg>tTg	p.S149L	HTR2C_uc010nqc.1_Missense_Mutation_p.S149L|HTR2C_uc004epv.1_Missense_Mutation_p.S149L	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	149					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.I148K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGCGCTATATCGCTGGATCGG	0.428000														13			48		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41961618	41961618	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:41961618G>T	uc010skn.2	+	8	1509	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	PDZRN4_uc001rmq.4_Nonsense_Mutation_p.E243*|PDZRN4_uc009zjz.3_Nonsense_Mutation_p.E241*|PDZRN4_uc001rmr.3_Nonsense_Mutation_p.E128*	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	501							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGAAAGGAATGAATTCTTAGA	0.393000														37			14		3.27435e-08	3.29645e-08	1	1	0
MAP3K11	4296	broad.mit.edu	37	11	65366992	65366992	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:65366992G>A	uc001oew.3	-	8	2572	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	MAP3K11_uc001oev.3_Silent_p.S109S|MAP3K11_uc010rol.2_Silent_p.S436S|MAP3K11_uc001oex.1_Silent_p.S200S	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	693	Pro-rich.				G1 phase of mitotic cell cycle|activation of JUN kinase activity|cell proliferation|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGATGAGCGGGGAAGGGGGCG	0.726000														29			23		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489288	42489289	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:42489288_42489289GG>AA	uc002osh.3	-	7	928_929	c.774_775CC>TT	c.(772-777)ggccgt>ggTTgt	p.R259C	ATP1A3_uc010xwf.2_Missense_Mutation_p.R270C|ATP1A3_uc010xwg.2_Missense_Mutation_p.R229C|ATP1A3_uc002osg.3_Missense_Mutation_p.R259C|ATP1A3_uc010xwh.2_Missense_Mutation_p.R272C			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	259					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTGGCGATACGGCCCATGACAG	0.663000														14			15		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504260	70504260	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:70504260A>T	uc001dep.3	+	18	2669	c.2639A>T	c.(2638-2640)gAa>gTa	p.E880V	LRRC7_uc009wbg.3_Missense_Mutation_p.E164V|LRRC7_uc001deq.3_Missense_Mutation_p.E121V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	880						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CATATAAAGGAATCTACTGAA	0.438000														114			16		0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82377913	82377913	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:82377913G>A	uc003hmi.1	-	3	474	c.330C>T	c.(328-330)atC>atT	p.I110I	RASGEF1B_uc003hmj.1_Silent_p.I110I|RASGEF1B_uc010ijq.1_Silent_p.I69I|RASGEF1B_uc003hmk.3_Silent_p.I110I	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	110	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GGAGTTGAAGGATTTTGGGTG	0.373000														20			32		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509462	71509462	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:71509462G>A	uc004agu.3	+	7	984	c.679G>A	c.(679-681)Gac>Aac	p.D227N	PIP5K1B_uc011lrq.2_Missense_Mutation_p.D227N|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	227	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CACATTTAAGGACTTAGATTT	0.433000														13			38		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174466	150174466	+	Silent	SNP	C	T	T	rs140854559		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150174466C>T	uc003whj.3	+	4	1926	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	532						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.F532F(2)|p.V531V(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCCTGGTGTTCCAGCTGGGAC	0.498000														29			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272003	1272003	+	Silent	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:1272003A>C	uc001lta.3	+	30	13952	c.13893A>C	c.(13891-13893)acA>acC	p.T4631T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4631	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ccacacccacaaccagtggct	0.652000														62			36		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526081	68526081	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:68526081C>T	uc009xpn.1	-	8	1345	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	CTNNA3_uc001jmw.2_Missense_Mutation_p.E408K|CTNNA3_uc001jmx.4_Missense_Mutation_p.E408K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	408					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATTTCCTTTTCCCGGCCATTC	0.433000														35			30		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102285616	102285616	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:102285616A>G	uc003knt.3	+	9	1108	c.735A>G	c.(733-735)gtA>gtG	p.V245V	PAM_uc003knw.3_Silent_p.V245V|PAM_uc003kns.3_Silent_p.V245V|PAM_uc003knu.3_Silent_p.V245V|PAM_uc011cuz.2_Silent_p.V148V|PAM_uc003knv.3_Silent_p.V245V	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	245	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTAAGGTAGTAAGTGGATACA	0.333000														16			12		0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845207	107845207	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:107845207G>A	uc003hyi.3	-	3	1389	c.684C>T	c.(682-684)ttC>ttT	p.F228F	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	228	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CGCAACGCTGGAAAATTTCCA	0.493000														107			27		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325184	150325184	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150325184G>A	uc022apv.1	-	2	1192	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	GIMAP6_uc003whn.3_Silent_p.L168L|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	168							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCCAGCCAGGTCTTCCTTC	0.607000														164			101		0	0	1	0	0
SMEK3P	139420	broad.mit.edu	37	X	27480718	27480718	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:27480718C>T	uc004dbu.1	-	0	741	c.696G>A	c.(694-696)ttG>ttA	p.L232L						Homo sapiens SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene (SMEK3P), non-coding RNA.																		TTGGCTGATCCAAAGCAGGGT	0.418000														0			11		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116359103	116359103	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:116359103C>T	uc004bhq.3	+	25	3676	c.3467C>T	c.(3466-3468)aCg>aTg	p.T1156M	RGS3_uc004bhs.3_Missense_Mutation_p.T1046M|RGS3_uc004bht.3_Missense_Mutation_p.T875M|RGS3_uc010muy.3_Missense_Mutation_p.T549M|RGS3_uc004bhv.3_Missense_Mutation_p.T477M|RGS3_uc004bhw.3_Missense_Mutation_p.T126M|RGS3_uc011lxh.2_Missense_Mutation_p.T477M|RGS3_uc004bhx.3_Missense_Mutation_p.T477M|RGS3_uc004bhz.3_Missense_Mutation_p.T498M|RGS3_uc004bia.3_Missense_Mutation_p.T269M	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1156	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.T269M(1)|p.T1052M(1)|p.T1156M(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGAGCGTCACGCGGGGCTGC	0.612000														20			30		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147928281	147928281	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:147928281G>A	uc021yfj.1	-	2	350	c.303C>T	c.(301-303)gtC>gtT	p.V101V	HTR4_uc021yfg.1_Silent_p.V101V|HTR4_uc021yfh.1_Silent_p.V101V|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Silent_p.V101V|HTR4_uc011dby.1_Silent_p.V101V|HTR4_uc003lpn.3_Silent_p.V101V|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Silent_p.V101V	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	101					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TTGTGAGCAGGACGTCCAGAG	0.498000														8			9		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70897082	70897082	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:70897082G>A	uc002ezr.3	-	67	11623	c.11472C>T	c.(11470-11472)ttC>ttT	p.F3824F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3825								p.F3776F(1)|p.F3824F(1)		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)				TAATCACATCGAACCTGCAAA	0.448000														19			10		0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186925455	186925455	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:186925455G>A	uc001gsc.3	+	13	1763	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	PLA2G4A_uc010pos.2_Missense_Mutation_p.E460K	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	520	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGATGATGATGAACTGGATGC	0.408000														53			107		0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113509850	113509850	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:113509850G>A	uc002tie.2	-	4	1675	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	CKAP2L_uc002tif.2_Silent_p.I121I|CKAP2L_uc010yxp.1_Silent_p.I367I|CKAP2L_uc010yxq.1_Silent_p.I367I	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	532						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTACCCCTTCGATGAGGTTCA	0.368000														67			57		0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45917580	45917580	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:45917580G>A	uc002imd.3	-	2	459	c.333C>T	c.(331-333)gcC>gcT	p.A111A	SCRN2_uc002imf.3_Silent_p.A111A	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	Homo sapiens secernin 2 (SCRN2), transcript variant 1, mRNA.	111					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGCCCAGCAGGGCTTCCCCCT	0.602000														53			47		0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18874971	18874971	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:18874971G>A	uc010qcp.1	-	7	1247	c.829C>T	c.(829-831)Cag>Tag	p.Q277*		NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	277							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AAGGCATTCTGTTTGATTTTT	0.348000														11			31		0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151791535	151791535	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:151791535A>C	uc010lqg.1	+	1	453	c.223A>C	c.(223-225)Aaa>Caa	p.K75Q	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Missense_Mutation_p.K75Q|GALNT11_uc003wkv.1_Missense_Mutation_p.K75Q|GALNT11_uc011kvn.1_Non-coding_Transcript	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	75						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CAAAGCAAACAAAATTGACGA	0.463000														49			36		0	0	1	0	0
CCDC77	84318	broad.mit.edu	37	12	547701	547701	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:547701C>T	uc001qig.3	+	9	1202	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V	CCDC77_uc009zdk.3_Missense_Mutation_p.A309V|CCDC77_uc010sdp.2_Missense_Mutation_p.A309V|CCDC77_uc010sdq.2_Missense_Mutation_p.A309V	NM_032358	NP_001123620	Q9BR77	CCD77_HUMAN	Homo sapiens coiled-coil domain containing 77 (CCDC77), transcript variant 1, mRNA.	341						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AGTCACCATGCTCAAAGTGAA	0.343000														20			37		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43871859	43871859	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:43871859G>A	uc010yny.2	+	1	130	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PLEKHH2_uc002rte.3_Missense_Mutation_p.R16Q|PLEKHH2_uc002rtf.3_Missense_Mutation_p.R16Q	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	16						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGAAGGAACGATGTGTAGCT	0.358000														7			7		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51178266	51178266	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:51178266C>T	uc003bnh.4	+	2	438	c.426C>T	c.(424-426)gaC>gaT	p.D142D	BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Silent_p.D142D	NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	142	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGAAATGACATTGCCCTCG	0.522000														20			49		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896958	23896958	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:23896958G>A	uc001wjx.3	-	15	1830	c.1724C>T	c.(1723-1725)gCc>gTc	p.A575V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	575	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGAGAAGTGGGCTTCAGGCTT	0.537000														15			41		0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48062756	48062756	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:48062756G>A	uc001rpr.3	-	13	1772	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L	RPAP3_uc010slk.2_Silent_p.L393L|RPAP3_uc001rps.3_Silent_p.L518L	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	552							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATCAGATTCGAGCTGGAACG	0.398000														29			31		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731546	141731546	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:141731546G>A	uc003vwy.3	+	12	1591	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	513	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.E513*(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGACAAAGGAATTTGAGCT	0.368000														51			25		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130784873	130784874	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:130784873_130784874CC>TT	uc001qgk.4	-	0	1509_1510	c.961_962GG>AA	c.(961-963)ggt>AAt	p.G321N	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.G321N|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	321					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCCTGCAGAACCCTCTGGCTCA	0.520000														52			36		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128307008	128307008	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:128307008C>T	uc003qbk.3	-	21	3473	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	PTPRK_uc010kfc.3_Missense_Mutation_p.E1043K|PTPRK_uc003qbj.3_Missense_Mutation_p.E1037K|PTPRK_uc011ebu.2_Missense_Mutation_p.E1059K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1036	Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCACGGATTTCATTGTACCCC	0.443000														35			16		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129419560	129419560	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:129419560G>A	uc021zfb.1	+	4	744	c.639_splice	c.e4+1	p.E213_splice	LAMA2_uc003qbn.3_Splice_Site_p.E213_splice|LAMA2_uc003qbo.3_Splice_Site_p.E213_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	213	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAATGGAGAGGTAAGATGAG	0.398000														40			15		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395022	186395022	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:186395022C>T	uc003fqq.3	+	6	951	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	310	Pro-rich.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTCACATGGACCCCCACTTCC	0.512000														41			35		0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993428	73993428	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:73993428C>T	uc003xzf.3	-	1	440	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	79	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										GGGCTCCATTCCCCCACGAAG	0.632000														52			34		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802564	185802564	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:185802564G>A	uc002uph.3	+	3	3035	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	814						intracellular	zinc ion binding	p.R814*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAACGGAGGCGAAAAAGAGGC	0.398000														29			31		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17142112	17142113	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:17142112_17142113GG>AA	uc001ioo.3	-	13	1708_1709	c.1656_1657CC>TT	c.(1654-1659)agcctc>agTTtc	p.L553F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	553	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCATGAGGGAGGCTGGAGCCAC	0.426000														38			20		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7558354	7558354	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:7558354G>A	uc003mxp.1	+	2	558	c.279G>A	c.(277-279)ttG>ttA	p.L93L	DSP_uc003mxq.1_Silent_p.L93L|DSP_uc021yle.1_Silent_p.L93L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	93	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCAGGAATTGAAGTATGGAG	0.428000														58			20		0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54975916	54975916	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:54975916C>T	uc001sgg.2	-	5	419	c.248_splice	c.e5-1	p.E83_splice		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA.	83					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						ATCTGGAGCTCTGGGGACACA	0.592000														12			3		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275901	114275901	+	Nonsense_Mutation	SNP	C	T	T	rs35152218		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:114275901C>T	uc003ibe.4	+	37	6227	c.6127C>T	c.(6127-6129)Cag>Tag	p.Q2043*	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Nonsense_Mutation_p.Q2058*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2010					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGAGAAGCTCAGAAAACAGA	0.453000														43			61		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23597390	23597390	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:23597390G>A	uc001wiz.3	-	9	2005	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	SLC7A8_uc001wiw.3_Missense_Mutation_p.P44S|SLC7A8_uc001wix.3_Missense_Mutation_p.P224S|SLC7A8_uc010tnk.2_Missense_Mutation_p.P203S|SLC7A8_uc010tnl.2_Missense_Mutation_p.P322S|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	427					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TAGATGATGGGGAACAGCAGG	0.577000														5			17		0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13378202	13378202	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:13378202G>A	uc003gmu.2	-	5	755	c.540C>T	c.(538-540)atC>atT	p.I180I	RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Silent_p.I180I|RAB28_uc011bwz.1_Silent_p.I180I	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	180					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGTTTAATTTGATCCCAAGGA	0.313000														33			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498800	179498800	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179498800C>T	uc021vsy.1	-	179	34947	c.34722G>A	c.(34720-34722)ctG>ctA	p.L11574L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.L5269L|TTN_uc021vta.1_Silent_p.L5202L|TTN_uc021vtb.1_Silent_p.L5077L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12501	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATGAATTTCAGTCTTATAC	0.363000														28			15		0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380921	56380921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:56380921C>T	uc001nja.1	-	0	58	c.58G>A	c.(58-60)Gac>Aac	p.D20N	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D20N(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGCACTGGGTCGTCTGTCAGT	0.458000														51			43		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142643326	142643326	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142643326G>A	uc003wcb.3	-	10	1492	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	428					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAGGCCTCACGAACAAACAAA	0.592000														25			10		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108264126	108264126	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:108264126G>A	uc003ymn.3	-	8	1922	c.1454C>T	c.(1453-1455)tCc>tTc	p.S485F	ANGPT1_uc011lhv.2_Missense_Mutation_p.S285F|ANGPT1_uc003ymo.3_Missense_Mutation_p.S484F	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	485	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGAACGTAAGGAGTAACTGGG	0.433000														61			53		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62865265	62865265	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:62865265G>A	uc002jey.2	-	7	3542	c.2926C>T	c.(2926-2928)Ctg>Ttg	p.L976L	LRRC37A3_uc010wqg.1_Silent_p.L94L|LRRC37A3_uc010wqf.1_Silent_p.L14L|LRRC37A3_uc010dek.1_5'UTR	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	976						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACAGTTGTCAGAGGATTGTGA	0.299000														61			40		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216497555	216497555	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:216497555C>T	uc001hku.1	-	6	1670	c.1283G>A	c.(1282-1284)gGa>gAa	p.G428E	USH2A_uc001hkv.3_Missense_Mutation_p.G428E	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	428	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCCAAATCTCCATTGTTTTT	0.318000										HNSCC(13;0.011)				25			4		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593772	123593772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:123593772C>T	uc003vle.3	+	2	587	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.L50F|SPAM1_uc022aks.1_Missense_Mutation_p.L50F|SPAM1_uc003vlf.4_Missense_Mutation_p.L50F|SPAM1_uc010lku.3_Missense_Mutation_p.L50F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	50					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGTGCCTTTCCTCTGGGCCTG	0.443000														18			15		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39086130	39086130	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:39086130C>T	uc002oix.1	-	28	2443	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	MAP4K1_uc002oiy.1_Missense_Mutation_p.D779N	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	779	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.S778S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTTACCTGATCCGAGCCTAGA	0.562000														31			15		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115409833	115409833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:115409833C>T	uc001lal.3	-	8	1015	c.851G>A	c.(850-852)gGc>gAc	p.G284D	NRAP_uc001laj.3_Missense_Mutation_p.G284D|NRAP_uc001lak.3_Missense_Mutation_p.G284D	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	284						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTCAAGATGCCCTCAGCTCC	0.458000														95			7		0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065936	57065936	+	Silent	SNP	C	T	T	rs61734808	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:57065936C>T	uc002qnj.3	+	7	1853	c.1782C>T	c.(1780-1782)tgC>tgT	p.C594C	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTAAAGAGTGCGGAAAAGCTT	0.413000														41			45		0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342649	122342649	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:122342649G>A	uc003vkk.1	-	0	373	c.156C>T	c.(154-156)atC>atT	p.I52I	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	52						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATTCCGATGTGATCTCATTTC	0.448000														23			16		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151271224	151271224	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:151271224G>A	uc010ipj.3	-	48	7559	c.7315C>T	c.(7315-7317)Cga>Tga	p.R2439*	LRBA_uc010ipi.3_Intron|LRBA_uc003ils.4_Nonsense_Mutation_p.R329*|LRBA_uc003ilt.4_Nonsense_Mutation_p.R1087*|LRBA_uc003ilu.4_Nonsense_Mutation_p.R2428*	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2439	BEACH.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGAGGGCTCGGACAGCTTCT	0.418000														17			44		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692306	135692306	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:135692306G>A	uc003lbn.2	-	1	992	c.770C>T	c.(769-771)aCt>aTt	p.T257I	TRPC7_uc010jef.2_Missense_Mutation_p.T248I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.T257I|TRPC7_uc010jei.2_Missense_Mutation_p.T257I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	257					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTAAATTCAGTCTCAATGTT	0.542000														16			6		0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5783899	5783899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:5783899G>A	uc010xiv.1	-	2	464	c.359C>T	c.(358-360)cCc>cTc	p.P120L	PRR22_uc002mdb.1_Missense_Mutation_p.P118L	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	118	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CTTGAGGTAGGGCTGAGGCTC	0.716000														6			3		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95715076	95715076	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:95715076G>A	uc001vmd.4	-	25	3367	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.S1036F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1083	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGAGATGAGGGAACTTTTTCC	0.403000														30			27		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172536	7172536	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:7172536C>T	uc001qsj.3	+	8	1369	c.650C>T	c.(649-651)aCc>aTc	p.T217I	C1S_uc001qsk.3_Missense_Mutation_p.T217I|C1S_uc001qsl.3_Missense_Mutation_p.T217I|C1S_uc009zfr.3_Missense_Mutation_p.T50I|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	217	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTGGTGGTGACCTTGCGGAGA	0.473000														56			21		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201229	24201229	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:24201229C>T	uc021oij.1	-	0	879	c.879G>A	c.(877-879)atG>atA	p.M293I	CNR2_uc001bif.3_Missense_Mutation_p.M293I	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	293					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CAGGGTTGACCATGGAGTTGA	0.582000														89			15		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460688	106460688	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:106460688C>T	uc001tlj.1	-	6	3258	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	626							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCCGGTACCGCTTCAGGTACT	0.612000														29			32		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343515	130343515	+	Silent	SNP	C	T	T	rs143168028		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:130343515C>T	uc010scd.2	+	7	2652	c.2652C>T	c.(2650-2652)ccC>ccT	p.P884P		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	884	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCATCGGCCCGTGGAGACAC	0.726000														35			24		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132535015	132535015	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:132535015G>A	uc003kyn.1	-	15	2519	c.2301C>T	c.(2299-2301)tcC>tcT	p.S767S	FSTL4_uc003kym.1_Silent_p.S416S	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	767						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTTCCCCGTGGACAGCTCCA	0.592000														14			24		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4510789	4510789	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:4510789G>A	uc002mar.1	-	2	3141	c.3141C>T	c.(3139-3141)gcC>gcT	p.A1047A	PLIN4_uc010dub.1_Silent_p.A71A	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1047						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						CCCAGGAGGTGGCGGGGGTAC	0.647000														35			29		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109027927	109027927	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:109027927C>T	uc003dxo.3	-	5	590	c.343_splice	c.e5-1	p.K115_splice		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	115	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCGATTTTCTTAGGAAATG	0.408000														123			74		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032566	142032566	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142032566G>A	uc011krs.1	+	1	419	c.386G>A	c.(385-387)gGa>gAa	p.G129E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		GGTTCCCTAGGAAATGGGGTT	0.473000														8			6		0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	39000389	39000389	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:39000389G>A	uc003gto.3	-	1	337	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	TMEM156_uc010ifj.3_Missense_Mutation_p.P77S	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	77						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAATTGGAGGGATTTAGAAAG	0.368000														9			20		0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144464755	144464756	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:144464755_144464756CC>TT	uc003yyb.3	+	14	2080_2081	c.1947_1948CC>TT	c.(1945-1950)tgcccc>tgTTcc	p.P650S		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	675					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGGAGGCTGCCCCCAGCCCTG	0.688000														22			16		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129488	76129488	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:76129488G>A	uc003keo.3	+	1	1231	c.1056G>A	c.(1054-1056)agG>agA	p.R352R		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	352					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		ATGATTTCAGGGATCATGCAA	0.473000														202			157		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45802416	45802416	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:45802416C>T	uc003bgc.3	-	3	592	c.540G>A	c.(538-540)gaG>gaA	p.E180E	SMC1B_uc003bgd.3_Silent_p.E180E|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	180					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACTGTGCATCCTCTTCGGCTT	0.368000														6			12		0	0	1	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126276448	126276448	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:126276448G>T	uc001qdx.1	+	0	81	c.64G>T	c.(64-66)Gag>Tag	p.E22*	ST3GAL4_uc001qds.3_Nonsense_Mutation_p.E33*|ST3GAL4_uc001qdu.3_Intron|ST3GAL4_uc021qry.1_Nonsense_Mutation_p.E33*|ST3GAL4_uc009zce.3_Intron|ST3GAL4_uc001qdw.3_Nonsense_Mutation_p.E32*|ST3GAL4_uc001qdz.3_5'Flank			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	33					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CAGGTACATCGAGCTGTGAGT	0.577000														57			23		4.26978e-12	4.30828e-12	1	1	0
SPERT	220082	broad.mit.edu	37	13	46287917	46287917	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:46287917G>A	uc001van.1	+	2	837	c.757G>A	c.(757-759)Gag>Aag	p.E253K	SPERT_uc001vao.2_Missense_Mutation_p.E217K	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	253						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCTCCGGGAGGAGAATCGCGC	0.682000														17			8		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101546353	101546353	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:101546353G>C	uc004ayu.3	-	3	1015	c.994C>G	c.(994-996)Cta>Gta	p.L332V	ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.L31V	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	332										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ACAGCTGCTAGCATCAGTGGC	0.597000														10			38		0	0	1	0	0
FAM172A	83989	broad.mit.edu	37	5	93159893	93159893	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:93159893G>A	uc010jbd.3	-	7	1074	c.867C>T	c.(865-867)ttC>ttT	p.F289F	FAM172A_uc011cuf.2_Silent_p.F243F|FAM172A_uc011cug.2_Silent_p.F179F|FAM172A_uc011cuh.2_Silent_p.F142F|FAM172A_uc011cui.2_Non-coding_Transcript|FAM172A_uc011cuj.2_Silent_p.F47F	NM_032042	NP_001156889	Q8WUF8	F172A_HUMAN	Homo sapiens family with sequence similarity 172, member A (FAM172A), transcript variant 1, mRNA.	289						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGTGAGCAACGAAAAACACAT	0.413000														59			26		0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170222292	170222292	+	Silent	SNP	G	A	A	rs41315922		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:170222292G>A	uc003mau.3	+	4	519	c.321G>A	c.(319-321)ctG>ctA	p.L107L	GABRP_uc011dev.2_Silent_p.L107L	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	107						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTTCACTCTGGATGCCCGCC	0.567000														159			18		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650172	146650172	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:146650172C>T	uc001epg.1	+	0	743	c.480C>T	c.(478-480)ttC>ttT	p.F160F						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		TAGGTTTTTTCGATGATTCAT	0.438000														66			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744029	140744029	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140744029C>T	uc003lju.2	+	0	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F	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_uc011das.2_Silent_p.F44F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	44	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCTCCTTCGTCGGCAACA	0.642000														39			33		0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96369745	96369745	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:96369745A>G	uc004efu.4	+	20	2766	c.2370A>G	c.(2368-2370)ttA>ttG	p.L790L	DIAPH2_uc004eft.4_Silent_p.L790L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	790	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGAAAATGTTACAGCCTCGTC	0.358000														1			15		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136291092	136291092	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:136291092C>T	uc004cdv.4	+	4	893	c.449C>T	c.(448-450)tCc>tTc	p.S150F	ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.S150F|ADAMTS13_uc004cdu.1_Missense_Mutation_p.S150F|ADAMTS13_uc004cdw.4_Missense_Mutation_p.S150F|ADAMTS13_uc004cdx.4_Missense_Mutation_p.S150F|ADAMTS13_uc004cdy.1_5'Flank|ADAMTS13_uc004cdq.1_Missense_Mutation_p.S150F|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_5'UTR	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	150	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCACCTCGTCCCTGCTGAGC	0.607000														11			25		0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345616	53345616	+	Silent	SNP	C	T	T	rs149270992		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:53345616C>T	uc001sbe.3	+	5	993	c.924C>T	c.(922-924)atC>atT	p.I308I	KRT18_uc009zmn.2_Silent_p.I308I|KRT18_uc001sbg.3_Silent_p.I308I|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	308	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				Golgi to plasma membrane CFTR protein transport|anatomical structure morphogenesis|cell cycle|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCTTGGAGATCGACCTGGACT	0.557000														15			17		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49160884	49160884	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:49160884G>A	uc003cwe.3	-	24	4277	c.3978C>T	c.(3976-3978)ttC>ttT	p.F1326F	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1326	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTCACCCAGGAAGTTTGAAT	0.522000														46			23		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124336085	124336085	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:124336085C>T	uc001lgk.1	+	6	560	c.454C>T	c.(454-456)Cca>Tca	p.P152S	DMBT1_uc001lgl.1_Missense_Mutation_p.P152S|DMBT1_uc001lgm.1_Missense_Mutation_p.P152S|DMBT1_uc021qaf.1_Missense_Mutation_p.P152S|DMBT1_uc021qag.1_Missense_Mutation_p.P152S|DMBT1_uc021qah.1_Missense_Mutation_p.P152S|DMBT1_uc009xzz.1_Missense_Mutation_p.P152S|DMBT1_uc010qtx.1_Missense_Mutation_p.P152S|DMBT1_uc009yaa.1_Missense_Mutation_p.P4S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	152	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATGTCAGCTCCAGGAAATGC	0.602000														52			128		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	372693	372693	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:372693G>A	uc002lol.3	-	4	616	c.573C>T	c.(571-573)tcC>tcT	p.S191S	THEG_uc002lom.3_Silent_p.S167S	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	191					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGCGGCGGGACACCGCTA	0.552000														34			12		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35849901	35849901	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:35849901G>T	uc002nzd.3	+	1	184	c.109G>T	c.(109-111)Gtg>Ttg	p.V37L	FFAR3_uc021usm.1_Missense_Mutation_p.V37L	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	37						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGGCCCTGGTGGTCTTCGT	0.642000														175			48		2.48254e-18	2.51399e-18	1	1	0
APBB2	323	broad.mit.edu	37	4	41016113	41016113	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:41016113G>A	uc003gvn.3	-	5	952	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	APBB2_uc003gvl.3_Missense_Mutation_p.R108C|APBB2_uc003gvm.3_Missense_Mutation_p.R108C|APBB2_uc011byt.1_Missense_Mutation_p.R91C	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	108					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCAGCCTTACGGAGCTGGTTC	0.562000														53			19		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401558	77401558	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:77401558G>A	uc002ffc.4	-	3	977	c.558C>T	c.(556-558)gcC>gcT	p.A186A	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	186					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTGTTCCTGGGCCAGAAGCT	0.493000														37			26		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30318484	30318484	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:30318484G>A	uc002ymr.2	-	19	3764	c.3751C>T	c.(3751-3753)Ctt>Ttt	p.L1251F		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1205							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CAACTGAAAAGAAAAATATCT	0.303000														46			18		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800784	35800784	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:35800784C>T	uc003zyd.3	+	5	1297	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S	NPR2_uc010mlb.3_Missense_Mutation_p.P433S	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	433					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGGGGCTCCTCCCTCGGACAA	0.577000														10			24		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64235727	64235727	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:64235727G>A	uc002lkc.1	-	2	554	c.416C>T	c.(415-417)tCg>tTg	p.S139L	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.S139L|CDH19_uc002lkd.3_Missense_Mutation_p.S139L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	139	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S139S(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATTGATATCCGAAACTTTGAT	0.418000														49			31		0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77808568	77808568	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:77808568G>A	uc002jxe.3	-	4	1036	c.873C>T	c.(871-873)tcC>tcT	p.S291S		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	291	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGTGGCTGGGGGAGCGAGCCT	0.632000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			44		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124766094	124766094	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:124766094C>T	uc001qbg.3	-	4	819	c.679_splice	c.e4+1	p.E227_splice	ROBO4_uc010sas.2_Splice_Site_p.E82_splice|ROBO4_uc001qbh.2_Splice_Site_p.E117_splice|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	227					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTGCCCTTACCCTGGATGGAA	0.597000														61			25		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168123334	168123334	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:168123334G>A	uc010jjg.3	-	27	3486	c.3066C>T	c.(3064-3066)atC>atT	p.I1022I	SLIT3_uc003mab.3_Silent_p.I1015I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1015	EGF-like 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.C1022F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTAGTTGTTGATCCCGTCCA	0.527000														46			58		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113200061	113200061	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:113200061G>A	uc001vse.1	-	10	1474	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	TUBGCP3_uc010tjq.1_Silent_p.F419F|TUBGCP3_uc001vsf.3_Silent_p.F429F	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	429					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AGCGGTACAGGAAGCTCAAAA	0.522000														127			60		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203522	140203523	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140203522_140203523GG>AA	uc003lhl.2	+	0	2162_2163	c.2162_2163GG>AA	c.(2161-2163)cgg>cAA	p.R721Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.R721Q|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R721Q	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	730					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGCTGCGGTGCTCGGCGC	0.668000														68			25		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282931	140282931	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:140282931G>A	uc003etn.3	+	15	2801	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	871					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGCTGCCAAGGAATCTGAGAT	0.577000										HNSCC(16;0.037)				80			49		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149915902	149915902	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:149915902G>A	uc001etn.3	-	11	2742	c.2386C>T	c.(2386-2388)Ccc>Tcc	p.P796S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	796					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGAGTTGGGGGAAGGCCCCGG	0.542000														156			33		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:233322730G>A	uc002vst.4	+	7	956	c.879G>A	c.(877-879)acG>acA	p.T293T	ALPI_uc002vsu.4_Silent_p.T204T	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000														31			33		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:228882732C>T	uc002vpq.2	-	6	2885	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_uc002vpp.2_Silent_p.A946A|SPHKAP_uc010zlx.1_Silent_p.A946A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	946	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGCAAATCGCTGCAATTT	0.473000														85			43		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237880516	237880516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:237880516G>A	uc001hyl.1	+	71	10462	c.10342G>A	c.(10342-10344)Gaa>Aaa	p.E3448K	RYR2_uc010pxz.1_Missense_Mutation_p.E403K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3448					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E3446*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTGATCAGGAAAGGAAGAA	0.463000														7			18		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	85937	85937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:85937C>T	uc003fzv.1	+	3	698	c.542C>T	c.(541-543)tCg>tTg	p.S181L	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTGGCAGATCGTTTTACATG	0.348000														14			4		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499759	66499759	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:66499759G>A	uc004aee.1	+	0	569	c.569G>A	c.(568-570)gGc>gAc	p.G190D	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GGGGTGGTGGGCAACCTGGTG	0.592000														68			6		0	0	1	0	0
C3orf33	285315	broad.mit.edu	37	3	155481320	155481320	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:155481320G>A	uc003fam.1	-	4	885	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	C3orf33_uc003fal.1_Missense_Mutation_p.R248C	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	Homo sapiens chromosome 3 open reading frame 33 (C3orf33), mRNA.	248							hydrolase activity, acting on ester bonds|nucleic acid binding	p.R242C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTTTCTACGAAAGTTTATG	0.323000														13			11		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702223	27702223	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:27702223G>A	uc001itu.2	-	0	1075	c.957C>T	c.(955-957)gcC>gcT	p.A319A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	319					spermatid development	integral to membrane	hedgehog receptor activity	p.R318W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATGGCTTTGGCCCGCAGGA	0.582000														25			58		0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247768908	247768908	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:247768908T>G	uc010pyz.2	+	0	21	c.21T>G	c.(19-21)agT>agG	p.S7R		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E6D(1)|p.S7I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAATGAGAGTTCCCTAATGG	0.463000														11			58		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38201340	38201340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:38201340C>T	uc002rqn.2	+	2	1270	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	FAM82A1_uc002rqk.1_Missense_Mutation_p.R59C|FAM82A1_uc002rql.3_Missense_Mutation_p.R204C|FAM82A1_uc021vga.1_Missense_Mutation_p.R204C|FAM82A1_uc002rqm.3_Missense_Mutation_p.R59C	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	204						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TGAACTACTTCGTGACCACAA	0.338000														18			15		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5050466	5050466	+	Missense_Mutation	SNP	C	T	T	rs139533846		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:5050466C>T	uc002gau.1	+	28	4638	c.2408C>T	c.(2407-2409)tCa>tTa	p.S803L	USP6_uc002gav.1_Missense_Mutation_p.S803L|USP6_uc010ckz.1_Missense_Mutation_p.S486L	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	803					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTCCAATTTCAGCTTCTAGT	0.358000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									19			35		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435404	158435404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:158435404C>T	uc010pij.2	+	0	53	c.53C>T	c.(52-54)tCa>tTa	p.S18L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCGGCTTCTCATCCCTGGCC	0.512000														71			11		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803489	23803489	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:23803489G>A	uc003gqs.3	-	11	2277	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	PPARGC1A_uc003gqt.3_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	719	RRM.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGTAGGTAATGAAACCATAGC	0.408000														8			25		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436060	179436060	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179436060G>A	uc021vsy.1	-	274	67320	c.67095C>T	c.(67093-67095)atC>atT	p.I22365I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Silent_p.I16060I|TTN_uc021vta.1_Silent_p.I15993I|TTN_uc021vtb.1_Silent_p.I15868I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23292	Fibronectin type-III 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCATCACTGATTGGCTCAT	0.453000														40			24		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21494816	21494816	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:21494816G>A	uc002kuq.3	+	57	7722	c.7636G>A	c.(7636-7638)Gat>Aat	p.D2546N	LAMA3_uc002kur.3_Missense_Mutation_p.D2490N|LAMA3_uc002kus.4_Missense_Mutation_p.D937N|LAMA3_uc002kut.4_Missense_Mutation_p.D881N	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2546	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTACCCACCTGATTTTAAAGT	0.303000														13			13		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743007	51743007	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:51743007C>T	uc010hlv.3	+	1	247	c.8C>T	c.(7-9)tCg>tTg	p.S3L	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	3					synaptic transmission	integral to plasma membrane		p.S3L(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCCATGGGATCGCTGCTTGCG	0.632000														15			13		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406981	105406981	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:105406981G>A	uc010axc.1	-	6	14927	c.14807C>T	c.(14806-14808)cCt>cTt	p.P4936L	AHNAK2_uc021sen.1_Missense_Mutation_p.P333L|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4836L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4936						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTTCTCCAGGGGCCACTAC	0.562000														8			30		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486025	8486025	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:8486025G>T	uc003zkk.3	-	27	3535	c.2792C>A	c.(2791-2793)aCt>aAt	p.T931N	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	931	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGAGGTTGAAGTGGTGCCTTC	0.468000										TSP Lung(15;0.13)				20			17		3.45872e-05	3.47268e-05	1	1	0
PILRA	29992	broad.mit.edu	37	7	99971862	99971862	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:99971862C>T	uc003uuo.1	+	1	472	c.260C>T	c.(259-261)cCt>cTt	p.P87L	PILRA_uc011kjn.1_Missense_Mutation_p.P87L|PILRA_uc011kjo.2_Missense_Mutation_p.P87L|PILRA_uc003uup.1_Missense_Mutation_p.P87L|PILRA_uc003uuq.1_Missense_Mutation_p.P87L	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	87	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	p.P86L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAAGGCCGCCTTCCATTCAC	0.552000														86			45		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734901	52734901	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:52734901C>T	uc001wzq.3	+	0	471	c.369C>T	c.(367-369)ctC>ctT	p.L123L		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	123						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CACTGCAACTCCTGGCCATGG	0.627000														130			36		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	129989871	129989871	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:129989871C>T	uc010lmd.1	+	5	874	c.254C>T	c.(253-255)cCt>cTt	p.P85L	CPA5_uc003vps.2_Missense_Mutation_p.P85L|CPA5_uc003vpt.2_Missense_Mutation_p.P85L|CPA5_uc010lme.1_Missense_Mutation_p.P85L|CPA5_uc003vpu.1_Missense_Mutation_p.P85L	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	85					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATGAGAGTTCCTTTCTCTGAA	0.517000														77			65		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923082	18923082	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:18923082G>A	uc002gut.1	+	12	1556	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L	SLC5A10_uc002gur.1_Silent_p.L459L|SLC5A10_uc002guu.1_Silent_p.L489L|SLC5A10_uc002guv.1_Silent_p.L462L|SLC5A10_uc010vyl.1_Silent_p.L453L	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	489					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGCTGGTCCTGGAATTCCTGA	0.682000														3			17		0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61009027	61009027	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:61009027C>T	uc002sai.3	+	10	1163	c.914C>T	c.(913-915)cCa>cTa	p.P305L	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR|PAPOLG_uc010fch.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	305					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CAGGTAAATCCATCAGATAGG	0.368000														64			16		0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19506821	19506821	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:19506821C>T	uc001reb.3	+	19	2633	c.2525C>T	c.(2524-2526)tCc>tTc	p.S842F	PLEKHA5_uc010sie.2_Missense_Mutation_p.S1003F|PLEKHA5_uc001rea.3_Missense_Mutation_p.S900F|PLEKHA5_uc009zin.3_Missense_Mutation_p.S600F|PLEKHA5_uc010sig.2_Missense_Mutation_p.S824F|PLEKHA5_uc010sih.1_Missense_Mutation_p.S797F|PLEKHA5_uc021qvy.1_Missense_Mutation_p.S831F|PLEKHA5_uc001rec.1_Missense_Mutation_p.S651F|PLEKHA5_uc009zio.3_Missense_Mutation_p.S108F	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	842							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TTTTTAGGTTCCCACTTTCCT	0.348000														17			19		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88323880	88323880	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:88323880C>T	uc001pcq.3	-	5	1779	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	GRM5_uc009yvm.3_Missense_Mutation_p.E527K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	527					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.E527K(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CAGCTGACTTCTCCCTTTCGG	0.393000														38			26		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449939	91449939	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:91449939G>A	uc001tbl.3	-	1	739	c.120C>T	c.(118-120)ttC>ttT	p.F40F		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	40	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGGGACACTCGAAGTCATGAA	0.398000														33			10		0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90604405	90604405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:90604405C>T	uc011eaa.2	+	0	218	c.218C>T	c.(217-219)tCt>tTt	p.S73F		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	73					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TTCCCTATCTCTTTGATCAGG	0.463000														28			10		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276027	186276027	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:186276027T>C	uc001gru.4	+	6	1227	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T351T|PRG4_uc009wyl.3_Silent_p.T299T|PRG4_uc009wym.3_Silent_p.T258T|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	392	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.637000														205			7		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751332	26751332	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:26751332G>A	uc003cdp.3	+	1	758	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E57K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E57K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	57	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAATCTCAAGGAAATACCTAG	0.413000														37			15		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206590788	206590788	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:206590788C>T	uc002vaw.3	+	5	1763	c.972C>T	c.(970-972)tcC>tcT	p.S324S	NRP2_uc002vat.3_Silent_p.S324S|NRP2_uc002vau.3_Silent_p.S324S|NRP2_uc002vav.3_Silent_p.S324S|NRP2_uc002vax.3_Silent_p.S324S|NRP2_uc002vay.3_Silent_p.S324S|NRP2_uc010fud.3_Silent_p.S324S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	324	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACTTGGATTCCAACAAGGAGT	0.512000														37			23		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337401	115337401	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:115337401C>T	uc011lwx.1	+	1	1216	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	KIAA1958_uc004bgf.1_Silent_p.P347P	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	347								p.L346L(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCCATCTGCCCAGCCAGGTCT	0.562000														32			70		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62371063	62371063	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:62371063G>A	uc003xuh.3	+	4	1263	c.939G>A	c.(937-939)tcG>tcA	p.S313S	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	313					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATACGTCCTCGAATCTGGAGA	0.493000														22			18		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74466470	74466470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:74466470G>A	uc002sko.1	-	15	2313	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P771S|SLC4A5_uc010ffc.1_Missense_Mutation_p.P771S|SLC4A5_uc002skp.1_Missense_Mutation_p.P707S|SLC4A5_uc002sks.1_Missense_Mutation_p.P771S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	771						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACCTTGGTAGGAAAATAGCGG	0.532000														36			21		0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159043086	159043086	+	Silent	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:159043086A>T	uc001ftj.1	-	1	449	c.204T>A	c.(202-204)atT>atA	p.I68I		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	68	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ACTTCTGAAAAATACGAATGG	0.448000														22			37		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29606609	29606609	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:29606609T>C	uc002rmy.3	-	4	2223	c.1271A>G	c.(1270-1272)aAc>aGc	p.N424S		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	424	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTCACTGCAGTTCTTCAGGGC	0.507000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					30			9		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50117055	50117055	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:50117055T>A	uc003jon.4	+	16	1859	c.1677T>A	c.(1675-1677)gaT>gaA	p.D559E	PARP8_uc011cpz.2_Missense_Mutation_p.D451E|PARP8_uc003joo.3_Missense_Mutation_p.D559E|PARP8_uc003jop.3_Intron	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	559						intracellular	NAD+ ADP-ribosyltransferase activity	p.D559G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGTGGTAGATCTACTAGTAT	0.398000														36			17		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341877	128341877	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:128341877C>T	uc002top.3	+	12	1577	c.1524C>T	c.(1522-1524)tcC>tcT	p.S508S		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	508	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCATCATCTCCCTCCTGGACG	0.607000														57			23		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121495971	121495971	+	Missense_Mutation	SNP	G	A	A	rs144806633		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:121495971G>A	uc001pxx.3	+	45	6478	c.6349G>A	c.(6349-6351)Gat>Aat	p.D2117N	SORL1_uc010rzp.1_Missense_Mutation_p.D963N|SORL1_uc010rzq.1_Missense_Mutation_p.D732N	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2117	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTGCTGTACGATGAGCTGGG	0.478000														36			35		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40770568	40770568	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:40770568C>T	uc002xkg.3	-	17	2941	c.2757G>A	c.(2755-2757)ggG>ggA	p.G919G	PTPRT_uc010ggj.3_Silent_p.G938G|PTPRT_uc010ggi.3_Silent_p.G122G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	919	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATATGATGTTCCCATATCGAT	0.473000														137			61		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113321160	113321160	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:113321160C>T	uc010syl.2	+	15	1751	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	RPH3A_uc001ttz.3_Silent_p.L463L|RPH3A_uc001tty.3_Silent_p.L459L|RPH3A_uc009zwe.1_Silent_p.L459L|RPH3A_uc010sym.2_Silent_p.L414L|RPH3A_uc001tua.3_Silent_p.L223L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	463	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATGAGACCCTCGTGTATCACG	0.567000														24			10		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735953	155735953	+	Missense_Mutation	SNP	G	A	A	rs138268831		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:155735953G>A	uc001flz.2	-	20	3408	c.3311C>T	c.(3310-3312)tCc>tTc	p.S1104F	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.S1104F|GON4L_uc009wrh.1_Missense_Mutation_p.S1104F|GON4L_uc001fma.1_Missense_Mutation_p.S1104F|GON4L_uc001fmb.4_Missense_Mutation_p.S300F|GON4L_uc001fmc.3_Missense_Mutation_p.S1104F|GON4L_uc001fmd.4_Missense_Mutation_p.S1104F|GON4L_uc009wri.3_Missense_Mutation_p.S690F	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1104					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGGGCAAGGGAGGGCAGCAT	0.562000														46			89		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869690	201869690	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:201869690C>T	uc021phl.1	-	1	699	c.451G>A	c.(451-453)Gag>Aag	p.E151K	LMOD1_uc021phm.1_Missense_Mutation_p.E151K|LMOD1_uc010ppu.2_Missense_Mutation_p.E100K	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	151					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTTCTCCTCCTTGGGCTTC	0.567000														108			23		0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356597	90356597	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:90356597C>T	uc001kff.3	+	7	941	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	209					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTAAAAAATTCATTGGTTCAA	0.308000														14			28		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63119728	63119728	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:63119728G>A	uc001daq.3	-	2	281	c.247C>T	c.(247-249)Cct>Tct	p.P83S	DOCK7_uc001dan.3_5'Flank|DOCK7_uc001dao.3_5'Flank|DOCK7_uc001dap.3_Missense_Mutation_p.P83S|DOCK7_uc009wah.1_Missense_Mutation_p.P83S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	83					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCATCTGGAGGAAATTCAATC	0.433000														61			12		0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80806740	80806740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:80806740C>T	uc002bfr.3	+	7	1037	c.871C>T	c.(871-873)Cca>Tca	p.P291S	ARNT2_uc010unm.2_Missense_Mutation_p.P280S|ARNT2_uc002bfs.3_Missense_Mutation_p.P280S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	291					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.P291T(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCCTGGCCACCAGCAGGTAA	0.478000														50			58		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142622633	142622633	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142622633T>A	uc003wby.1	-	7	1377	c.1113A>T	c.(1111-1113)aaA>aaT	p.K371N	TRPV5_uc003wbz.3_Missense_Mutation_p.K371N	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	371					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCTGTAGTAGTTTTTGCTGGA	0.522000														34			27		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62065718	62065718	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:62065718T>A	uc002sbm.4	-	3	1808	c.1706A>T	c.(1705-1707)cAt>cTt	p.H569L	FAM161A_uc002sbn.4_Intron|FAM161A_uc010ypo.2_Intron|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Intron	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	540					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAACTTTGATGTGAGTCATA	0.363000														20			39		0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18065388	18065388	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:18065388G>A	uc002zmp.1	+	5	753	c.259G>A	c.(259-261)Gac>Aac	p.D87N	SLC25A18_uc010gqx.3_Missense_Mutation_p.D87N|SLC25A18_uc002zmq.1_Missense_Mutation_p.D87N	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	87						integral to membrane|mitochondrial inner membrane	binding|symporter activity	p.N86N(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GGCGGCCAACGACTTTTTCCG	0.562000														4			8		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572460	127572460	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:127572460G>A	uc004bov.3	+	7	1841	c.1728G>A	c.(1726-1728)ggG>ggA	p.G576G	OLFML2A_uc004bow.3_Silent_p.G362G	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	576	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ACTCCTACGGGAACTGCTTCC	0.652000														31			21		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7470723	7470723	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:7470723G>A	uc001qsx.1	+	4	866	c.866G>A	c.(865-867)gGa>gAa	p.G289E		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	289					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TGGCTGTGTGGAGCCTGTGTT	0.473000														44			10		0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15621479	15621479	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:15621479G>A	uc003caf.3	-	8	901	c.741C>T	c.(739-741)acC>acT	p.T247T	HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Intron|HACL1_uc011avs.2_Silent_p.T220T|HACL1_uc011avt.2_Silent_p.T221T|HACL1_uc003cag.3_5'UTR|HACL1_uc011avu.2_Silent_p.T165T	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN	Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA.	247					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCCCCATAGGGGTGGGCAAAA	0.448000														43			32		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873775	36873775	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:36873775G>A	uc003cgj.3	-	20	7415	c.7167C>T	c.(7165-7167)ttC>ttT	p.F2389F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2389					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGACATTCATGAAACGGAAAA	0.493000														68			40		0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97753802	97753802	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:97753802G>A	uc021xbo.1	-	1		c.147C>T			GABRR3_uc021xbp.1_Non-coding_Transcript	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						AGATGTAGGTGAAGGAGACTA	0.423000														18			9		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079275	1079275	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:1079275G>A	uc002qwq.3	+	1	273	c.144G>A	c.(142-144)acG>acA	p.T48T	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Silent_p.T48T	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	48					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGCTGACGAAAGAGGTGC	0.468000														55			19		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773631	229773631	+	Missense_Mutation	SNP	G	C	C	rs146627260		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:229773631G>C	uc001hts.1	+	3	3407	c.3271G>C	c.(3271-3273)Gtt>Ctt	p.V1091L	URB2_uc009xfd.1_Missense_Mutation_p.V1091L	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1091						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCTGCAGCAGGTTGTGCTGCA	0.622000														98			20		0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794819	37794819	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:37794819G>A	uc011lbj.1	-	3	595	c.495C>T	c.(493-495)ccC>ccT	p.P165P		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	165					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GGAGTATGTCGGGGTCCATGC	0.532000														17			11		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429101	57429101	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:57429101T>A	uc002xzw.3	+	0	1066	c.781T>A	c.(781-783)Tcg>Acg	p.S261T	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGTCGCGGCCTCGAGTGCGGT	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				13			19		0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490253	150490253	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150490253C>T	uc022apx.1	-	3	649	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	TMEM176B_uc003whu.4_Missense_Mutation_p.G175R|TMEM176B_uc003whv.4_Missense_Mutation_p.G138R|TMEM176B_uc003whw.4_Missense_Mutation_p.G175R	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	175					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCTGTACCCAGTGGTAGGG	0.502000														56			29		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337081	12337081	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:12337081T>A	uc001atv.3	+	18	3577	c.3436T>A	c.(3436-3438)Ttt>Att	p.F1146I	VPS13D_uc001atw.3_Missense_Mutation_p.F1146I|VPS13D_uc001atx.3_Missense_Mutation_p.F334I	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1146					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATGACTGATTTTGAAAGAAG	0.383000														30			40		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567238	136567238	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:136567238G>A	uc002tuu.1	-	7	2690	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	893	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AATCTCTTTCGAACTTGGGTT	0.522000														78			43		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98515105	98515105	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:98515105C>T	uc003upp.3	+	19	2634	c.2425C>T	c.(2425-2427)Ctg>Ttg	p.L809L	TRRAP_uc011kis.2_Silent_p.L809L|TRRAP_uc003upr.3_Silent_p.L501L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	809					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTTGTGGAGCTGTGTCTCAC	0.567000														48			34		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082400	78082400	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:78082400C>T	uc002jxp.3	+	6	1555	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	GAA_uc002jxo.3_Silent_p.F396F|GAA_uc002jxq.3_Silent_p.F396F	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	396					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGGCCCACTTCCCCCTGGTGA	0.687000														30			18		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122078506	122078506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:122078506C>T	uc022akp.1	-	15	2775	c.2353G>A	c.(2353-2355)Gat>Aat	p.D785N	CADPS2_uc003vkg.4_Missense_Mutation_p.D486N|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.D786N|CADPS2_uc022akr.1_Missense_Mutation_p.D789N	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	789	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTGGCAATATCTTTCATTAAA	0.423000														10			11		0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74677788	74677788	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:74677788G>A	uc011csu.2	-	14	2025	c.1603C>T	c.(1603-1605)Cat>Tat	p.H535Y	COL4A3BP_uc003kds.3_Missense_Mutation_p.H509Y|COL4A3BP_uc003kdt.3_Missense_Mutation_p.H663Y|COL4A3BP_uc003kdu.2_Missense_Mutation_p.H535Y	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	535	START.				ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GCACTGTCATGATCCACAGAA	0.343000														12			10		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10971332	10971332	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:10971332C>T	uc002yip.1	-	4	393	c.25G>A	c.(25-27)Gac>Aac	p.D9N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D9N|TPTE_uc002yir.1_Missense_Mutation_p.D9N|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	9					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)		CCCGCCAGGTCAGTCGGATCA	0.443000														54			7		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224278	248224278	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:248224278C>T	uc001idx.1	+	0	295	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GTGTGGGATTCAGAGTTTCTT	0.433000														89			115		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502436	140502436	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140502436G>A	uc003lip.1	+	0	856	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	286	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCATCAGATGAAATTAAACA	0.343000														85			23		0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144919303	144919303	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:144919303G>A	uc011lkt.2	-	13	1311	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	NRBP2_uc003yzw.3_Silent_p.L183L|NRBP2_uc010mfl.3_Silent_p.L183L|NRBP2_uc010mfm.3_Silent_p.L148L|NRBP2_uc011lks.2_Silent_p.L148L|NRBP2_uc003yzy.3_Silent_p.L148L|NRBP2_uc003yzv.3_Silent_p.L148L|NRBP2_uc003yzz.1_Silent_p.L9L	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	Homo sapiens nuclear receptor binding protein 2 (NRBP2), mRNA.	391					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGCCCCAGGGGTCGAGTG	0.637000														37			27		0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33951122	33951122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:33951122C>T	uc002ypw.4	-	3	496	c.380G>A	c.(379-381)gGa>gAa	p.G127E		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TGAAATTTTTCCAAAAGCAGG	0.373000														51			33		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189864581	189864581	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:189864581G>A	uc002uqj.1	+	31	2360	c.2243G>A	c.(2242-2244)gGt>gAt	p.G748D		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	748	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAACCAGGCGGTCCAGGTGCT	0.478000														7			8		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71901333	71901333	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:71901333T>C	uc010fen.3	+	51	5932	c.5791T>C	c.(5791-5793)Ttc>Ctc	p.F1931L	DYSF_uc010fei.3_Missense_Mutation_p.F1909L|DYSF_uc010feh.3_Missense_Mutation_p.F1899L|DYSF_uc002sig.4_Missense_Mutation_p.F1878L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.F1923L|DYSF_uc010fee.3_Missense_Mutation_p.F1913L|DYSF_uc010fef.3_Missense_Mutation_p.F1930L|DYSF_uc002sie.3_Missense_Mutation_p.F1892L|DYSF_uc010feo.3_Missense_Mutation_p.F1924L|DYSF_uc010fej.3_Missense_Mutation_p.F1900L|DYSF_uc010fel.3_Missense_Mutation_p.F1879L|DYSF_uc010fem.3_Missense_Mutation_p.F1914L|DYSF_uc002sif.3_Missense_Mutation_p.F1893L|DYSF_uc010fek.3_Missense_Mutation_p.F1910L|DYSF_uc010yqy.2_Missense_Mutation_p.F773L|DYSF_uc010yqz.2_Missense_Mutation_p.F653L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1892						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCAGGATGCCTTCTGGAGGCT	0.532000														33			22		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126699	82126699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:82126699C>T	uc001kca.1	+	4	906	c.526C>T	c.(526-528)Cct>Tct	p.P176S	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.P176S	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	176							protein binding	p.P176L(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CTCCAAATCTCCTTTTTAGGT	0.408000														26			58		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9496652	9496652	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:9496652C>T	uc002wni.2	+	2	738	c.243C>T	c.(241-243)atC>atT	p.I81I	LAMP5_uc010zrc.2_Intron	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	81			I -> V (in dbSNP:rs2232263).			integral to membrane											CCCAGCTGATCACAGAACAGG	0.672000														20			7		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053520	21053520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:21053520C>T	uc002kui.4	+	7	1560	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	RIOK3_uc010dls.3_Missense_Mutation_p.R315C|RIOK3_uc010xas.2_Missense_Mutation_p.R299C|RIOK3_uc010xat.2_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	315	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTTTAAAGATCGCTTCAGTAA	0.338000														20			10		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167189480	167189480	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:167189480G>A	uc003fes.1	-	1	244	c.173C>T	c.(172-174)tCa>tTa	p.S58L	SERPINI2_uc003fer.1_Missense_Mutation_p.S48L|SERPINI2_uc003fet.1_Missense_Mutation_p.S48L	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	48					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCAAGGGGTGAAAATATAAT	0.393000														45			36		0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115078744	115078744	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:115078744G>A	uc001eez.3	-	28		c.4899C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCAGCCTGGAACACTGGCA	0.522000														30			9		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66905910	66905910	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:66905910G>A	uc004dwu.2	+	2	2942	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	AR_uc011mpd.2_Silent_p.R609R|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.R609R|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Silent_p.R609R|AR_uc004dwv.2_Silent_p.R77R	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	608	Interaction with HIPK3 (By similarity).				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AATTCCGAAGGAAAAATTGTC	0.428000									Androgen Insensitivity Syndrome					5			29		0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135960094	135960094	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:135960094G>A	uc004fae.2	-	3	578	c.368C>T	c.(367-369)cCc>cTc	p.P123L	RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.P123L|RBMX_uc011mwg.2_Missense_Mutation_p.P84L|RBMX_uc004faf.2_Intron	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	123						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCCCCGTGAGGGAGGTCCCCT	0.542000														10			36		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108737	93108737	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:93108737C>T	uc003umv.2	-	4	488	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R45Q|CALCR_uc003umw.2_Missense_Mutation_p.R45Q	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	45					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CATCTTCTTTCGTCCTACGAC	0.403000														93			54		0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75501756	75501756	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:75501756C>T	uc001oxa.3	+	3	668	c.409C>T	c.(409-411)Cga>Tga	p.R137*	DGAT2_uc001oxb.3_Nonsense_Mutation_p.R94*	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	137					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	p.R137*(2)		endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GCGCTACTTTCGAGACTACTT	0.537000														58			35		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363199	22363199	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:22363199C>T	uc002nqs.1	-	2	1638	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K440N(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATGAATTCTCTTGTGTTCAG	0.438000														49			38		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122759153	122759153	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:122759153G>A	uc003vkm.3	-	12	1519	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L	SLC13A1_uc010lks.3_Silent_p.L374L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	498						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATAATATTGGGAGAAAGAGTG	0.393000														20			15		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784964	54784964	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:54784964C>T	uc004dtj.2	-	7	1573	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	515					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ATGCCCAGTTCCTGTTTGCCT	0.622000														6			17		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047234	67047234	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:67047234G>A	uc003xvv.3	+	2	577	c.351G>A	c.(349-351)aaG>aaA	p.K117K	TRIM55_uc003xvu.3_Silent_p.K117K|TRIM55_uc003xvw.3_Silent_p.K117K|TRIM55_uc003xvx.3_Silent_p.K117K	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	117						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGCCAGAAAAGAAATCCGACC	0.517000														36			20		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335704	57335704	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:57335704C>T	uc002qnu.2	-	0	671	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_5'UTR|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_5'UTR|PEG3_uc002qnq.2_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.R107Q|PEG3_uc002qnv.2_Missense_Mutation_p.R107Q|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.R107Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	107	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R107Q(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTTTTTGCTCGCACCCAAGG	0.542000														50			33		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057400	9057400	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9057400C>T	uc002mkp.3	-	2	30250	c.30046G>A	c.(30046-30048)Gaa>Aaa	p.E10016K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10018	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						CTAGTTTTTTCCACAAAGAGA	0.438000														36			24		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222075	100222075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:100222075C>T	uc003knk.3	-	2	803	c.475G>A	c.(475-477)Gag>Aag	p.E159K	ST8SIA4_uc003knl.3_Missense_Mutation_p.E159K	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	159					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTGTCAATCTCCTTTCCACAT	0.383000														37			24		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52287214	52287214	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:52287214C>T	uc003xqu.4	-	17	3736	c.3635G>A	c.(3634-3636)gGa>gAa	p.G1212E	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1212					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGTGTTGGTCCCACTCTTGT	0.458000														43			6		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898711	175898711	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:175898711C>T	uc003iuc.3	+	4	2705	c.2035C>T	c.(2035-2037)Ctg>Ttg	p.L679L	ADAM29_uc003iud.3_Silent_p.L679L|ADAM29_uc010irr.3_Silent_p.L679L|ADAM29_uc011cki.2_Silent_p.L679L|ADAM29_uc021xuo.1_Silent_p.L679L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	679					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTCTGTTATCTGTGTATATT	0.358000														28			6		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187197491	187197491	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:187197491C>T	uc003iza.1	+	6	1035	c.702C>T	c.(700-702)ccC>ccT	p.P234P		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	234	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CTCATCATCCCGGTTGCTTGT	0.423000														58			14		0	0	1	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203863	5203863	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:5203863C>T	uc009xhz.2	-	2		c.417G>A								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCTACATAGTCCGGTCCAAGT	0.418000														13			11		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605378	84605378	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:84605378G>A	uc004amn.3	+	2	326	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	93						integral to membrane		p.R93R(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AAGAGGAAAGGAAGCTGCTTT	0.418000														2			5		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018565	62018565	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:62018565C>T	uc002jds.1	-	23	5154	c.5077G>A	c.(5077-5079)Gaa>Aaa	p.E1693K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1693					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1693K(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCGTCCATTTCCCCAGAGTCA	0.577000														44			32		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317863	145317863	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:145317863G>A	uc003lnt.3	+	1	610	c.372G>A	c.(370-372)atG>atA	p.M124I	SH3RF2_uc011dbl.1_Missense_Mutation_p.M124I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	124							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATCCACATGGATGGGGTAA	0.463000														36			12		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154090291	154090291	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:154090291C>T	uc001fdw.3	-	11	1602	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.T510T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	510						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCACTCCTTTCGTGGTTACTA	0.433000														73			21		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263129	167263129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:167263129G>A	uc002udu.2	-	24	4140	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1337					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CACAAGGTAGGATCCTACTGT	0.408000														69			32		0	0	1	0	0
CALCB	797	broad.mit.edu	37	11	15098834	15098834	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:15098834C>T	uc001mlx.1	+	3	300	c.227C>T	c.(226-228)tCc>tTc	p.S76F	CALCB_uc009ygr.1_Missense_Mutation_p.S76F	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	76					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CAAATCAGCTCCGCTGCCCAG	0.537000														31			22		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52440032	52440032	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:52440032G>A	uc010tgr.1	-	0		c.188C>T			CCDC70_uc001vfu.4_Missense_Mutation_p.G173E|CCDC70_uc021rjv.1_Missense_Mutation_p.G173E			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTCCTTGAGGGGGAGAAAGCC	0.547000														109			37		0	0	1	0	0
PEMT	10400	broad.mit.edu	37	17	17409590	17409590	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:17409590G>A	uc002grl.3	-	5	658	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	PEMT_uc002grj.3_Silent_p.L165L|PEMT_uc002grk.3_Silent_p.L165L|PEMT_uc010vwx.2_Missense_Mutation_p.P212L	NM_148172	NP_680478	Q9UBM1	PEMT_HUMAN	Homo sapiens phosphatidylethanolamine N-methyltransferase (PEMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		AGCACCGTCAGGAGCAGGCCC	0.692000														1			8		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003902	122003902	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:122003902G>A	uc003eew.4	+	6	3569	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	CASR_uc003eev.4_Missense_Mutation_p.G1034E	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1034					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGTCTGCAAGGACCTGTGGGT	0.572000														50			34		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483443	59483443	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:59483443G>A	uc002lih.1	-	1	666	c.254C>T	c.(253-255)tCc>tTc	p.S85F	RNF152_uc021ula.1_Missense_Mutation_p.S85F	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	85					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGTGTGTTCGGAAGTGTGTGG	0.647000														38			27		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105277523	105277523	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:105277523G>A	uc010npd.3	-	3	1451	c.1216C>T	c.(1216-1218)Cta>Tta	p.L406L	SERPINA7_uc004eme.2_Silent_p.L406L	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	406					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACTTTCCCTAGAAAGAGAATA	0.388000														75			44		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994790	140994790	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:140994790C>T	uc004fbt.3	+	3	1924	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P193S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	534							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGATTGTTCCAAGTCTTCC	0.522000										HNSCC(15;0.026)				32			103		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423503	88423503	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:88423503C>T	uc002bme.2	-	18	2638	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	NTRK3_uc002bmh.2_Missense_Mutation_p.E756K|NTRK3_uc002bmf.2_Missense_Mutation_p.E764K|NTRK3_uc021sua.1_Missense_Mutation_p.E756K	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	778	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTTTTACCTCCGTGTTTGAG	0.502000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				69			21		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81965259	81965259	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:81965259G>A	uc002fgt.3	+	25	2917	c.2739_splice	c.e25+1	p.K913_splice		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	913					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTGACACCAAGGTAGGCACCT	0.602000														60			32		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777667	183777667	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:183777667C>T	uc003fmk.3	+	7	1011	c.977C>T	c.(976-978)aCc>aTc	p.T326I		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	326						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTGCTGGAGACCGTCTTCATT	0.567000														60			35		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546104	82546104	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:82546104G>A	uc003uhx.2	-	6	11487	c.11198C>T	c.(11197-11199)tCc>tTc	p.S3733F	PCLO_uc003uhv.2_Missense_Mutation_p.S3733F|PCLO_uc010lec.3_Missense_Mutation_p.S698F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3664					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTCCTGTGGAAATCTCCTC	0.443000														43			36		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945190	4945190	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:4945190G>A	uc010qyr.2	-	0	380	c.380C>T	c.(379-381)gCc>gTc	p.A127V		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTGCAGACGGCCACGTAGCG	0.517000														46			19		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78649406	78649406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:78649406C>T	uc003dqe.2	-	29	5006	c.4798G>A	c.(4798-4800)Gat>Aat	p.D1600N	ROBO1_uc003dqc.2_Missense_Mutation_p.D1500N|ROBO1_uc003dqd.2_Missense_Mutation_p.D1555N|ROBO1_uc003dqb.2_Missense_Mutation_p.D1561N|ROBO1_uc010hoh.2_Missense_Mutation_p.D792N	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1600					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAACTGGGATCTCTGGGATTA	0.378000														45			23		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913440	77913440	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:77913440C>T	uc022bzi.1	-	0	478	c.478G>A	c.(478-480)Gat>Aat	p.D160N	ZCCHC5_uc004edc.1_Missense_Mutation_p.D160N	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	160	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGGGGGATCCTGGGGTTCT	0.562000														8			25		0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98002054	98002054	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:98002054C>T	uc003dsj.1	+	0	323	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAATTTTTTTCCTTTGCATTT	0.368000														62			39		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135032400	135032400	+	Silent	SNP	C	T	T	rs139504552		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:135032400C>T	uc001llz.1	+	26	4744	c.4743C>T	c.(4741-4743)ttC>ttT	p.F1581F		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1581	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGAGAAACTTCGCGACAGCCA	0.567000														88			4		0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651991	96651991	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:96651991G>A	uc003pop.4	+	2	1301	c.960G>A	c.(958-960)aaG>aaA	p.K320K	FUT9_uc021zcw.1_Silent_p.K320K	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	320					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACTGGAGGAAGGATTTCACTG	0.368000														51			22		0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102262131	102262131	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:102262131G>A	uc001krc.1	-	10	1392	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	SEC31B_uc010qpo.1_Silent_p.F429F|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	430					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATCGCATCAGGAATTCAGATT	0.517000														26			21		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115383374	115383374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:115383374C>T	uc001lal.3	-	22	2535	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.E791K|NRAP_uc001lak.3_Missense_Mutation_p.E756K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	791						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCTGGTTTTCCCAGCTGCTC	0.493000														31			43		0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17308603	17308603	+	RNA	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:17308603C>T	uc010gqr.1	+	0		c.240C>T								Homo sapiens heat shock transcription factor, Y-linked 1 pseudogene 1 (HSFY1P1), non-coding RNA.																		CCACAAGGATCCTTGATAAAA	0.398000														13			4		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63149575	63149575	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:63149575G>A	uc002jfe.3	+	1	296	c.93G>A	c.(91-93)gaG>gaA	p.E31E	RGS9_uc021ubw.1_Silent_p.E31E|RGS9_uc010dem.3_Silent_p.E31E|RGS9_uc002jfd.3_Silent_p.E31E	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	31	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGAACCCAGAGACAGGGGTCC	0.502000														102			54		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111464204	111464204	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:111464204G>A	uc003iab.4	+	12	2320	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	660					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AAGTCTTATTGATGATGCTTT	0.318000														27			53		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241668	36241668	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:36241668G>A	uc021rid.1	+	55	9093	c.8559G>A	c.(8557-8559)ggG>ggA	p.G2853G	NBEA_uc021ric.1_Silent_p.G2850G|NBEA_uc010abi.3_Silent_p.G1511G|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.G646G|NBEA_uc001uvd.3_Silent_p.G431G	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2853						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTAATGGGAAACTTTTGG	0.403000														131			45		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468457	56468457	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:56468457C>T	uc021wzo.1	-	0	719	c.579G>A	c.(577-579)gaG>gaA	p.E193E	ERC2_uc003dhr.1_Silent_p.E193E	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	193						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCAAGACTCTCTCCTTCTTAA	0.468000														57			47		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138109	203138109	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:203138109C>T	uc001gzh.1	-	8	1401	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	448	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ACCCCAGAATCAAAGGGGCTG	0.562000														78			191		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592120	119592120	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:119592120G>A	uc001txa.2	+	11	1852	c.1464G>A	c.(1462-1464)cgG>cgA	p.R488R		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	488	Arg-rich.|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						GGAGACGTCGGTCCTACTCGC	0.672000														13			4		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096460	51096460	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:51096460T>G	uc003tps.3	-	10	2689	c.2504A>C	c.(2503-2505)aAa>aCa	p.K835T	COBL_uc003tpr.4_Missense_Mutation_p.K778T|COBL_uc011kcl.2_Missense_Mutation_p.K778T|COBL_uc003tpp.4_Missense_Mutation_p.K564T|COBL_uc003tpq.4_Missense_Mutation_p.K719T|COBL_uc003tpo.4_Missense_Mutation_p.K320T	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	778										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCCAGGTGTTTTTCCACAGA	0.587000														46			3		0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2291206	2291207	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:2291206_2291207GG>AA	uc010dsx.1	-	1	697_698	c.569_570CC>TT	c.(568-570)tcc>tTT	p.S190F	SPPL2B_uc010dsw.1_Intron|LINGO3_uc021ums.1_Missense_Mutation_p.S190F|AX747191_uc002lvo.1_Missense_Mutation_p.G7K	NM_001101391	NP_001094861	P0C6S8	LIGO3_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 3 (LINGO3), mRNA.	190						integral to membrane				lung(1)|urinary_tract(1)	2						GCGACTCCCCGGACAGAGCCGT	0.723000														9			11		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98363751	98363751	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:98363751C>T	uc001kmq.3	-	14	2354	c.2226G>A	c.(2224-2226)atG>atA	p.M742I	PIK3AP1_uc001kmo.3_Missense_Mutation_p.M341I|PIK3AP1_uc001kmp.3_Missense_Mutation_p.M564I	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	742						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGTCCCCTTCCATCCCGCTGC	0.552000														0			7		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176680981	176680981	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:176680981C>T	uc001gkz.3	+	11	4826	c.3662C>T	c.(3661-3663)tCa>tTa	p.S1221L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1221					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATTTGCACATCATACCATCCA	0.423000														83			11		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196577372	196577372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:196577372C>T	uc001gtd.1	-	0	128	c.68G>A	c.(67-69)gGg>gAg	p.G23E	KCNT2_uc001gte.1_Missense_Mutation_p.G23E|KCNT2_uc001gtf.1_Missense_Mutation_p.G23E|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.G23E|KCNT2_uc009wyv.1_Missense_Mutation_p.G23E	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	23						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.G23V(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCCTTGGTCCCCTAGCAGCAA	0.507000														97			20		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35856643	35856643	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:35856643C>T	uc003olj.3	-	3	375	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	SRPK1_uc003olh.3_5'UTR|SRPK1_uc003oli.3_5'UTR|SRPK1_uc011dtg.2_Missense_Mutation_p.R68Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	84	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCCTAACTTTCGGATCACATG	0.373000														51			61		0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58186744	58186744	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:58186744T>C	uc003djo.1	-	4	623	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E	DNASE1L3_uc011bfd.1_Missense_Mutation_p.K146E|DNASE1L3_uc003djp.1_Missense_Mutation_p.K176E|DNASE1L3_uc003djq.1_Missense_Mutation_p.K176E	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	176					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CAGCGGTGTTTCACGTCCGTG	0.552000														198			10		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30977214	30977214	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:30977214C>T	uc021vfn.1	-	7	915	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	CAPN13_uc021vfm.1_Missense_Mutation_p.E295K|CAPN13_uc002rnp.1_Missense_Mutation_p.E295K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	295	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCACAGGTTTCCTCCCACTCC	0.448000														15			3		0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338703	122338703	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:122338703G>A	uc003vkj.1	-	0	506	c.270C>T	c.(268-270)acC>acT	p.T90T	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	90	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGCTGAAAATGGTATTGGGAT	0.453000														87			51		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748903	41748903	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:41748903G>A	uc010ehj.3	+	10	1618	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	AXL_uc010ehi.1_Silent_p.K476K|AXL_uc010ehk.3_Silent_p.K467K|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	476						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACCGGCGAAAGAAGGAGACCC	0.617000														48			19		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068437	126068437	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:126068437C>T	uc001uhe.1	+	4	1327	c.1319C>T	c.(1318-1320)cCt>cTt	p.P440L	TMEM132B_uc021rgl.1_Missense_Mutation_p.P330L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	440						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTGGAAAGCCTGTTTCAGTT	0.522000														139			46		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34646853	34646853	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:34646853G>A	uc010ucc.2	+	5	1664	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	C15orf55_uc010ucd.2_Missense_Mutation_p.E418K|C15orf55_uc001zif.3_Missense_Mutation_p.E400K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	400						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCAGCAGCAGGAGGAGGAAGG	0.527000			T	"""BRD3, BRD4"""	lethal midline carcinoma									62			51		0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65319138	65319138	+	Silent	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:65319138A>T	uc003juk.2	+	8	928	c.618A>T	c.(616-618)ctA>ctT	p.L206L	ERBB2IP_uc011cqx.2_Silent_p.L206L|ERBB2IP_uc003jui.2_Silent_p.L206L|ERBB2IP_uc003jul.2_Silent_p.L206L|ERBB2IP_uc011cqy.2_Silent_p.L206L|ERBB2IP_uc003juj.2_Silent_p.L206L|ERBB2IP_uc011cqz.2_Silent_p.L206L|ERBB2IP_uc010iwx.2_Silent_p.L206L	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	206					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTGAGCAACTAAGTGGATTGA	0.383000														33			33		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020788	90020788	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:90020788G>A	uc003kju.3	+	45	9984	c.9888G>A	c.(9886-9888)ggG>ggA	p.G3296G	GPR98_uc003kjt.3_Silent_p.G1002G|GPR98_uc003kjv.3_Silent_p.G896G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3296					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.Q3295H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGGCAGGGGATTTTTATTC	0.284000														14			11		0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31692761	31692761	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:31692761G>A	uc011doc.2	+	5	676	c.636G>A	c.(634-636)gcG>gcA	p.A212A	C6orf25_uc003nwk.3_Missense_Mutation_p.G219R|C6orf25_uc011dod.2_Silent_p.A168A|C6orf25_uc003nwn.3_3'UTR|C6orf25_uc011doe.2_Silent_p.A188A|C6orf25_uc003nwo.3_Missense_Mutation_p.G175R	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	212						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TGCTCTATGCGGATCTGGACC	0.557000														64			13		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938927	119938927	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:119938927C>T	uc003yon.4	-	3	946	c.623G>A	c.(622-624)aGg>aAg	p.R208K	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	208	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			AACAGCAAACCTGAAGAATGC	0.398000														22			11		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24463103	24463103	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:24463103G>T	uc002zzi.1	+	15	2330	c.2203G>T	c.(2203-2205)Gag>Tag	p.E735*	CABIN1_uc021wnc.1_Nonsense_Mutation_p.E685*|CABIN1_uc002zzj.1_Nonsense_Mutation_p.E685*|CABIN1_uc002zzl.2_Nonsense_Mutation_p.E735*	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	735					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCCATTCCTGAGAGGCCAGC	0.547000														27			16		1.15088e-07	1.15656e-07	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166870396	166870396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:166870396C>T	uc002udo.4	-	19	3790	c.3563G>A	c.(3562-3564)aGa>aAa	p.R1188K	SCN1A_uc010fpk.3_Missense_Mutation_p.R1160K|SCN1A_uc021vsb.1_Missense_Mutation_p.R1177K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1188						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACACTTGAATCTTTGTACACA	0.378000														62			42		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422716	31422716	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:31422716G>A	uc010cap.1	+	13	1637	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N	ITGAD_uc002ebv.1_Missense_Mutation_p.D529N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	529					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGTGTTGGGGGATGTGAATGA	0.622000														142			84		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065502	9065502	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9065502G>T	uc002mkp.3	-	2	22148	c.21944C>A	c.(21943-21945)tCc>tAc	p.S7315Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7317	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7315P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGATGGGGGAAGTAGGGAA	0.448000														25			11		4.68919e-08	4.71871e-08	1	1	0
ZNF264	9422	broad.mit.edu	37	19	57723252	57723252	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:57723252G>A	uc002qob.3	+	3	1201	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGAGTGCATGGAGTGTGGAAA	0.498000														57			18		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140616288	140616288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140616288C>T	uc003ljc.1	+	0	2351	c.2003C>T	c.(2002-2004)tCg>tTg	p.S668L						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGGGCGGCCTCGATGGGTCGC	0.647000														124			69		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077101	19077101	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:19077101G>A	uc001mph.3	-	1	937	c.849C>T	c.(847-849)ggC>ggT	p.G283G	MRGPRX2_uc021qer.1_Silent_p.G283G	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	283					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCCTAAAAGAGCCCACGAAGA	0.498000														60			39		0	0	1	0	0
C5orf48	389320	broad.mit.edu	37	5	125968242	125968242	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:125968242G>A	uc003kub.1	+	1	104	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	31										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CATCAGGTATGAAGAGATTCA	0.393000														23			15		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999717	218999717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:218999717G>A	uc002vgz.2	+	3	403	c.193G>A	c.(193-195)Gga>Aga	p.G65R	CXCR2_uc002vha.2_Missense_Mutation_p.G65R|CXCR2_uc002vhb.2_Missense_Mutation_p.G65R|CXCR2_uc021vwp.1_Missense_Mutation_p.G65R	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	65					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GAGCCTGCTGGGAAACTCCCT	0.512000														102			39		0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2973534	2973534	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:2973534C>T	uc001qlf.3	-	7	1501	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	FOXM1_uc001qle.3_Missense_Mutation_p.M406I|FOXM1_uc009zea.3_Missense_Mutation_p.M391I|FOXM1_uc009zeb.3_Missense_Mutation_p.M390I|FOXM1_uc001qlg.3_Missense_Mutation_p.M391I	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	406					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GCTCTGAGCTCATGAGGGAAG	0.562000														57			75		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020739	32020739	+	Silent	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:32020739T>C	uc003nzl.2	-	25	9019	c.8817A>G	c.(8815-8817)gaA>gaG	p.E2939E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2986	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCGTGCTGGGTTCTGTGGGGG	0.642000														44			22		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221648	140221648	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140221648G>A	uc003lhs.2	+	0	742	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E248K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	263	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAATACGAAGTAAGAAT	0.453000														31			18		0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58285269	58285269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:58285269C>T	uc002aex.3	-	5	831	c.558G>A	c.(556-558)tgG>tgA	p.W186*	ALDH1A2_uc010ugv.2_Nonsense_Mutation_p.W165*|ALDH1A2_uc002aey.3_Nonsense_Mutation_p.W186*|ALDH1A2_uc010ugw.2_Nonsense_Mutation_p.W157*|ALDH1A2_uc002aew.3_Nonsense_Mutation_p.W90*	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	186					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGGGAAGTTCCACTGAAAGG	0.418000														26			11		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108546451	108546451	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:108546451C>T	uc001pkm.3	+	2	441	c.376C>T	c.(376-378)Cca>Tca	p.P126S	DDX10_uc001pkl.1_Missense_Mutation_p.P126S	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	126	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTCTTGTTCCAGTAAGTAC	0.398000			T	NUP98	AML*									53			28		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618715	141618715	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:141618715C>T	uc003vwu.1	+	0	40	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ATTTTATCTCCTTGGCTTCCC	0.378000														121			73		0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33457303	33457303	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:33457303G>A	uc002nty.3	-	1	198	c.109C>T	c.(109-111)Cct>Tct	p.P37S	CEP89_uc010edg.3_Non-coding_Transcript|CEP89_uc002nua.3_Missense_Mutation_p.P37S|CEP89_uc002nub.1_5'UTR	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	37						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTGCGGGGAGGAGGTGTGCGT	0.557000														24			17		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3726132	3726132	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:3726132G>A	uc010ewt.3	+	3	320	c.159G>A	c.(157-159)agG>agA	p.R53R		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	72							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		AGACCAGGAGGAAAAGGATTC	0.493000										HNSCC(21;0.051)				31			7		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155005955	155005955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:155005955G>A	uc001fgm.3	-	0	303	c.223C>T	c.(223-225)Cag>Tag	p.Q75*	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	75						integral to membrane		p.R74H(1)|p.R74C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTCGGACCTGGCGAGAGAAT	0.657000														40			66		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110104137	110104138	+	Missense_Mutation	DNP	GG	AA	AA	rs138560358	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:110104137_110104138GG>AA	uc009yxy.3	-	12	1721_1722	c.1411_1412CC>TT	c.(1411-1413)cct>TTt	p.P471F	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Missense_Mutation_p.P124F|RDX_uc009yya.3_Intron|RDX_uc001pks.3_Missense_Mutation_p.P5F|RDX_uc001pkt.3_Missense_Mutation_p.P125F|RDX_uc001pku.3_Missense_Mutation_p.P471F|RDX_uc010rwe.2_Missense_Mutation_p.P335F	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	471	Glu-rich.|Poly-Pro.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGGAGGTGGAGGGGGGGCAGAC	0.431000														88			45		0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170883792	170883792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:170883792C>T	uc003mbk.3	+	4	1144	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	203					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCGGATCCGGCCCACACACCC	0.602000														42			47		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785402	11785402	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:11785402G>A	uc010buu.1	-	8	1787	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	TXNDC11_uc002dbg.1_Silent_p.S548S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	575					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGTGAGGAACGGAGCTTGGGG	0.478000														69			53		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231159024	231159024	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:231159024G>A	uc002vql.3	+	20	2122	c.2007G>A	c.(2005-2007)agG>agA	p.R669R	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.R555R|SP140_uc002vqm.3_Silent_p.R609R|SP140_uc010fxl.3_Silent_p.R642R	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	669					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACGTTACAGGAAAAAAAAGG	0.373000														15			7		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67567593	67567593	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:67567593C>T	uc001xiy.3	+	11	2280	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	GPHN_uc001xix.3_Missense_Mutation_p.R420C|GPHN_uc010tss.2_Missense_Mutation_p.R433C|GPHN_uc010tst.2_Missense_Mutation_p.R356C|GPHN_uc010tsu.2_Missense_Mutation_p.R310C	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	387	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCCAGGAGATCGTTTCATCAT	0.448000			T	MLL	AL									6			20		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39684155	39684155	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:39684155C>T	uc002hxd.4	-	0	487	c.345G>A	c.(343-345)tgG>tgA	p.W115*	JUP_uc010wfs.2_Intron	NM_002276	NP_002267	P14923	PLAK_HUMAN	Homo sapiens keratin 19 (KRT19), mRNA.	16					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCTTCTGGTACCAGTCGCGGA	0.667000														69			42		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51612713	51612713	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:51612713G>A	uc003pah.1	-	57	9977	c.9701C>T	c.(9700-9702)tCc>tTc	p.S3234F	PKHD1_uc010jzn.1_Missense_Mutation_p.S1217F|PKHD1_uc003pai.3_Missense_Mutation_p.S3234F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3234					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTTGGATTGGAGGGAGCTCT	0.483000														100			16		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074441	32074441	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:32074441G>A	uc003jhl.3	+	17	3617	c.3229G>A	c.(3229-3231)Gaa>Aaa	p.E1077K	PDZD2_uc003jhm.3_Missense_Mutation_p.E1077K|PDZD2_uc011cnx.1_Missense_Mutation_p.E903K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1077					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGGAAGAAGGAACTGTCAGG	0.587000														60			60		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574328	140574328	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140574328C>T	uc003lix.3	+	0	2377	c.2203C>T	c.(2203-2205)Cca>Tca	p.P735S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	735					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTCCTTTTCCAGGGCATCT	0.657000														87			46		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75434918	75434918	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:75434918C>T	uc009zry.3	-	3	1868	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	KCNC2_uc001sxe.3_3'UTR|KCNC2_uc001sxf.3_3'UTR	NM_139136	NP_631874	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 1, mRNA.	0					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCAGTATAGTCCTTGGTATGG	0.443000														23			10		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673385	141673385	+	Silent	SNP	G	A	A	rs144536521		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:141673385G>A	uc003vwx.1	-	0	189	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	35					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCAAGAAAACGAAGGCATTGG	0.483000														49			27		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445926	128445926	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:128445926C>T	uc003vnv.2	+	6	1476	c.1060C>T	c.(1060-1062)Cgg>Tgg	p.R354W	CCDC136_uc003vnu.2_Missense_Mutation_p.R392W|CCDC136_uc003vnx.2_Missense_Mutation_p.R170W|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	354						integral to membrane	protein binding	p.R354W(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGGTGCTTCGGTTTCAGAC	0.607000														33			23		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535397	39535397	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:39535397C>T	uc002hwm.3	-	5	1046	c.1034G>A	c.(1033-1035)aGc>aAc	p.S345N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	345	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GTGGGCCTCGCTCTCCGTCAG	0.572000														55			23		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344806	5344806	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5344806G>A	uc001mao.1	-	0	777	c.722C>T	c.(721-723)tCc>tTc	p.S241F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTAATGTGGGAGATACAGGT	0.398000														28			26		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908853	52908853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:52908853C>T	uc001san.3	-	8	1809	c.1646G>A	c.(1645-1647)gGg>gAg	p.G549E		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	549	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCAGAGCCCCCCACACTGAG	0.657000														35			16		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69798452	69798452	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:69798452G>A	uc003hef.2	-	2	921	c.890C>T	c.(889-891)tCa>tTa	p.S297L	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	297						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCTTCCCCTGAACTCTGGAC	0.353000														108			21		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171970	102171970	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:102171970G>A	uc003dvt.1	+	2	462	c.362G>A	c.(361-363)gGa>gAa	p.G121E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G105E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G105E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	105	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGGGCTGTGGAAACAACCTG	0.443000														22			11		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232697	117232697	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:117232697G>A	uc003vjd.3	+	13	2608	c.2476G>A	c.(2476-2478)Gaa>Aaa	p.E826K	CFTR_uc011knq.2_Missense_Mutation_p.E232K	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	826			E -> K (in thoracic sarcoidosis).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGAAATTAACGAAGAAGACTT	0.373000									Cystic Fibrosis					27			26		0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122808	41122808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:41122808C>T	uc003xnt.3	-	2	1135	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	275	NTR.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TGGCTCTTCACCTTGCGGCCC	0.512000														61			35		0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457245	107457245	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:107457245G>A	uc011lvs.2	+	0	543	c.543G>A	c.(541-543)tgG>tgA	p.W181*		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S180Y(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CATGGTCCTGGATCATAGGCT	0.458000														20			42		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192400	52192400	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:52192400G>A	uc002xwq.4	-	2	3245	c.2903C>T	c.(2902-2904)cCc>cTc	p.P968L	ZNF217_uc010gij.1_Missense_Mutation_p.P960L	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	968					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTTGGTTTGGGAGGCAGCGC	0.532000														46			33		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43219721	43219721	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:43219721C>T	uc002lbe.3	+	6	1670	c.854C>T	c.(853-855)gCc>gTc	p.A285V	SLC14A2_uc002lbb.3_Missense_Mutation_p.A285V|SLC14A2_uc010dnj.3_Missense_Mutation_p.A285V	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	285						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGTTACAAGCCATCCCTGTT	0.537000														61			60		0	0	1	0	0
CCDC164	92749	broad.mit.edu	37	2	26667169	26667169	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:26667169A>G	uc002rhg.2	+	8	1182	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A	CCDC164_uc010eym.1_Non-coding_Transcript	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	370										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						CCAGTCTCTAACCTCGGACTA	0.428000														30			8		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56962269	56962269	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:56962269G>A	uc001cyj.2	-	5	1458	c.890C>T	c.(889-891)tCa>tTa	p.S297L		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	297					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GTCCACAGGTGAAAGGATTTC	0.473000														81			19		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049618	2049618	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:2049618C>T	uc002cof.1	-	10	1947	c.1932G>A	c.(1930-1932)cgG>cgA	p.R644R	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.R8R	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	644	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGGGGGCACTCCGAGCAGGGG	0.721000														33			17		0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436024	56436024	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:56436024C>T	uc003xsf.3	+	2	1223	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	397						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CCTCGGTTTTCCAGCTGTACT	0.512000														91			60		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887086	55887086	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:55887086C>T	uc010spo.2	+	0	940	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AATTGCATTTCGTTTAAAAAA	0.279000														9			5		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018807	36018807	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:36018807A>G	uc002oad.2	-	0	447	c.377T>C	c.(376-378)gTt>gCt	p.V126A	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	126	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCTTCCCAACCTGTCCAGC	0.562000														85			76		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111799810	111799810	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:111799810G>A	uc010hqb.2	+	15	2203	c.2033G>A	c.(2032-2034)tGg>tAg	p.W678*	TMPRSS7_uc011bhr.1_Nonsense_Mutation_p.W533*	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	804	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GATGGAAAATGGATTTTGACT	0.403000														56			39		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2683248	2683248	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:2683248G>A	uc001lwn.3	+	10	1559	c.1451G>A	c.(1450-1452)aGc>aAc	p.S484N	KCNQ1_uc009ydp.1_Missense_Mutation_p.S268N|KCNQ1_uc001lwo.3_Missense_Mutation_p.S357N|KCNQ1OT1_uc001lwp.2_Non-coding_Transcript	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	484					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)	AGAACCAACAGCTTCGCCGAG	0.577000														84			68		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154134829	154134829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:154134829G>A	uc004fmt.3	-	14	5410	c.5239C>T	c.(5239-5241)Cct>Tct	p.P1747S	F8_uc010nvi.1_5'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1747	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGAACTGAGGGACACTGCCA	0.443000														9			30		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55913000	55913000	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:55913000G>A	uc010qhy.1	-	14	2054	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	PCDH15_uc010qhq.2_Silent_p.I553I|PCDH15_uc010qhr.2_Silent_p.I548I|PCDH15_uc021pqv.1_Silent_p.I548I|PCDH15_uc021pqw.1_Silent_p.I560I|PCDH15_uc010qht.2_Silent_p.I555I|PCDH15_uc021pqx.1_Silent_p.I548I|PCDH15_uc001jjv.1_Silent_p.I526I|PCDH15_uc021pqy.1_Silent_p.I548I|PCDH15_uc021pqz.1_Silent_p.I526I|PCDH15_uc010qhv.1_Silent_p.I548I|PCDH15_uc010qhw.1_Silent_p.I511I|PCDH15_uc010qhx.1_Silent_p.I548I|PCDH15_uc010qhz.1_Silent_p.I548I|PCDH15_uc010qia.1_Silent_p.I526I|PCDH15_uc001jju.1_Silent_p.I548I|PCDH15_uc010qib.1_Silent_p.I526I|PCDH15_uc001jjw.3_Silent_p.I548I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	548	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A552D(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCAACAAGGATTTCATATG	0.473000										HNSCC(58;0.16)				14			33		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459791	142459791	+	Missense_Mutation	SNP	G	A	A	rs144403091		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:142459791G>A	uc003wak.2	+	2	384	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.V63M	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	123	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.R122R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CAACGCCCGCGTGTCCACCAT	0.587000														86			59		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121058619	121058619	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:121058619C>T	uc010rzo.2	+	19	6078	c.6078C>T	c.(6076-6078)gtC>gtT	p.V2026V		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2026	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGTCACCGTCTTTAAATTCA	0.438000														71			23		0	0	1	0	0
C8orf4	56892	broad.mit.edu	37	8	40011367	40011367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:40011367C>T	uc003xnq.2	+	0	381	c.316C>T	c.(316-318)Cac>Tac	p.H106Y		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	106					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CATCAAAGTTCACTGAAGAGA	0.428000														33			20		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60040271	60040271	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:60040271G>A	uc002izo.3	-	20	4983	c.4906C>T	c.(4906-4908)Cca>Tca	p.P1636S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1636					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTGCAGGTGGATACGTGACT	0.403000														56			30		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642967	1642967	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:1642967C>T	uc009ycy.1	-	1	339	c.252G>A	c.(250-252)ggG>ggA	p.G84G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	179	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCACAGCCCCCCTTGGAAC	0.662000														214			5		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896804	23896804	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:23896804C>T	uc001wjx.3	-	15	1984	c.1878G>A	c.(1876-1878)ggG>ggA	p.G626G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	626	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCGCATCAGCCCCAGCATAGT	0.542000														6			25		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	973	973	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrGL000237.1:973G>A	uc011mgu.1	-	1		c.245C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		agtctggcttggagcagctgg	0.562000														78			9		0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	319584	319584	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:319584C>T	uc002cgj.1	-	16	1210	c.1207_splice	c.e16-1	p.D403_splice	LUC7L_uc021szo.1_Intron|ITFG3_uc010uud.1_Non-coding_Transcript|RGS11_uc002cgi.1_Splice_Site_p.D382_splice|RGS11_uc010bqs.1_Splice_Site_p.D392_splice|RGS11_uc002cgk.1_Splice_Site_p.D219_splice	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	403	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGGTAGGAGTCCTACAAGAGA	0.612000														37			16		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55104091	55104091	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:55104091C>T	uc002lgo.3	+	0	1175	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	381					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GGAGTAAACTCAAATCTGGCA	0.607000														29			13		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410499	159410499	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:159410499G>A	uc010piv.2	+	0	988	c.951G>A	c.(949-951)ggG>ggA	p.G317G	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	317					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.G317G(2)|p.G317E(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTTGGTGGGAAGTTTTCCT	0.488000														25			46		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111542359	111542359	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:111542359C>T	uc010yxk.1	+	2	350	c.126C>T	c.(124-126)gtC>gtT	p.V42V		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	42					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAGGAGAAGTCCTCTCCATGG	0.478000														49			20		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105263946	105263946	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:105263946C>T	uc003yls.3	+	27	4243	c.4002C>T	c.(4000-4002)ttC>ttT	p.F1334F	RIMS2_uc003ylp.3_Silent_p.F1316F|RIMS2_uc003ylq.3_Silent_p.F1130F|RIMS2_uc003ylr.3_Silent_p.F1155F	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1378	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAAACTTTTCCCACCTTCCT	0.448000										HNSCC(12;0.0054)				93			49		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11589959	11589959	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:11589959C>T	uc001ash.4	+	14	3183	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1015					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTGTGGTCTTCGGCATTATTG	0.647000														107			22		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739372	38739372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:38739372G>A	uc003ciq.3	-	26	5339	c.5339C>T	c.(5338-5340)cCc>cTc	p.P1780L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1780					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATTTCGATTGGGTTTTGGGAT	0.478000														61			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141460033	141460033	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:141460033C>T	uc002tvj.1	-	37	7085	c.6113G>A	c.(6112-6114)gGa>gAa	p.G2038E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2038					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2038R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATGCTATTCCCATGCTTAC	0.423000										TSP Lung(27;0.18)				39			21		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21799618	21799618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:21799618C>T	uc002zur.4	+	2	664	c.434C>T	c.(433-435)cCc>cTc	p.P145L	HIC2_uc002zus.4_Missense_Mutation_p.P145L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	145					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCCGGCAAGCCCTTTGGCTCT	0.697000														15			16		0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	45000782	45000782	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:45000782G>A	uc003cod.3	-	1	421	c.147C>T	c.(145-147)atC>atT	p.I49I	ZDHHC3_uc003cog.3_Silent_p.I49I	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA.	49						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ACCAGGTAACGATGGCACAGG	0.532000														81			57		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84606374	84606374	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:84606374C>T	uc004eer.2	-	4	668	c.522G>A	c.(520-522)gaG>gaA	p.E174E	POF1B_uc004ees.3_Silent_p.E174E	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	174							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TATTTAGCTTCTCCACTTTTC	0.284000														3			12		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126520032	126520032	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:126520032G>A	uc011lzm.1	-	2	370	c.156C>T	c.(154-156)ttC>ttT	p.F52F	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Silent_p.F84F|DENND1A_uc004boa.1_Silent_p.F84F|DENND1A_uc004bob.1_Silent_p.F54F|DENND1A_uc004boc.3_Silent_p.F52F	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	84	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCAGAACCCGAATCTCTGTT	0.493000														3			26		0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355047	42355047	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:42355047G>A	uc002xld.3	-	0	596	c.288C>T	c.(286-288)ccC>ccT	p.P96P	GTSF1L_uc002xlc.3_Intron	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	96							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGGAAGGCAGGGTGAGACCT	0.498000														50			15		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55566639	55566639	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:55566639G>A	uc002ryv.2	-	12	2321	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	CCDC88A_uc010ypa.1_Silent_p.I493I|CCDC88A_uc010yoz.1_Silent_p.I493I|CCDC88A_uc010ypb.1_Silent_p.I395I	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	493					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCATTTTCAGGATTTTGGAAG	0.299000														9			8		0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6077153	6077153	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:6077153G>A	uc003spp.3	-	10	1380	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	EIF2AK1_uc003spq.3_Missense_Mutation_p.P411S|EIF2AK1_uc011jwm.1_Missense_Mutation_p.P288S	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA.	412	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ATAACATAAGGACCTTGAAGT	0.299000														48			28		0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38281084	38281084	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:38281084G>A	uc001cce.1	-	10	2127	c.1986C>T	c.(1984-1986)agC>agT	p.S662S		NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	662						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	p.P661P(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAGCCTGGGGGCTCGGCTCTG	0.637000														50			18		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28671027	28671027	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:28671027T>A	uc002kwl.4	-	3	892	c.438A>T	c.(436-438)gaA>gaT	p.E146D	DSC2_uc002kwk.4_Missense_Mutation_p.E146D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	146	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCAAGGAGTTTTCTAGCATCG	0.413000														25			25		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862781	55862781	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:55862781C>T	uc002eim.3	-	1	263	c.155G>A	c.(154-156)gGa>gAa	p.G52E	CES1_uc002eil.3_Missense_Mutation_p.G53E|CES1_uc002ein.3_Missense_Mutation_p.G52E	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	52					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AAAAGGGATTCCCAGGAAAAT	0.567000														72			8		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572443	140572443	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140572443C>T	uc003lix.3	+	0	492	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	106	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGTATTTCCAAATTTTAA	0.448000														32			16		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558228	159558228	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:159558228G>A	uc001ftv.3	+	1	498	c.402G>A	c.(400-402)gtG>gtA	p.V134V		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	134	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.L133L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CACCTTTGGTGAAAAAGGGTC	0.498000														22			43		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699707	136699707	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:136699707C>T	uc003vtf.1	+	3	718	c.95C>T	c.(94-96)tCc>tTc	p.S32F	CHRM2_uc003vtg.1_Missense_Mutation_p.S32F|CHRM2_uc003vti.1_Missense_Mutation_p.S32F|CHRM2_uc003vtm.1_Missense_Mutation_p.S32F|CHRM2_uc003vtj.1_Missense_Mutation_p.S32F|CHRM2_uc003vtk.1_Missense_Mutation_p.S32F|CHRM2_uc003vtl.1_Missense_Mutation_p.S32F|CHRM2_uc003vtn.1_Missense_Mutation_p.S32F|CHRM2_uc003vto.1_Missense_Mutation_p.S32F|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S32F	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	32					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTGGCTGGATCCCTCAGTTTG	0.423000														67			31		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15733004	15733004	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:15733004G>A	uc001rcv.2	+	20	3422	c.2952G>A	c.(2950-2952)atG>atA	p.M984I	PTPRO_uc001rcw.2_Missense_Mutation_p.M956I|PTPRO_uc001rcx.2_Missense_Mutation_p.M173I|PTPRO_uc001rcy.2_Missense_Mutation_p.M173I|PTPRO_uc001rcz.2_Missense_Mutation_p.M145I|PTPRO_uc001rda.2_Missense_Mutation_p.M145I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	984	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TAGTCTCCATGAATGAAGAGG	0.363000														23			13		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878479	150878479	+	Silent	SNP	G	A	A	rs149386099	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150878479G>A	uc003wjm.1	-	2	912	c.651C>T	c.(649-651)acC>acT	p.T217T	ASB10_uc003wjl.1_Silent_p.T217T|ASB10_uc003wjn.1_Silent_p.T202T	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	217					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGCAAAGGGGTCTCCTCTT	0.632000														24			15		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6710854	6710854	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:6710854G>A	uc002mfm.3	-	12	1544	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	494					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTTGTTCATGATCTGGGGGG	0.657000														27			15		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125088481	125088481	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:125088481C>T	uc003yqw.3	+	31	4341	c.4135C>T	c.(4135-4137)Ccc>Tcc	p.P1379S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1379	C2 5.					integral to membrane		p.P1379L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAATCAGATCCCTACATTGT	0.413000														104			67		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158504519	158504519	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:158504519G>A	uc003qqx.2	+	20	3030	c.2924G>A	c.(2923-2925)cGa>cAa	p.R975Q	SYNJ2_uc003qqw.2_Missense_Mutation_p.R975Q|SYNJ2_uc003qqy.2_Missense_Mutation_p.R738Q|SYNJ2_uc003qqz.2_Missense_Mutation_p.R592Q|SYNJ2_uc003qra.2_Missense_Mutation_p.R318Q	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	975							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AAAGGTTTGCGAGAGGAGATC	0.502000														37			30		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5428841	5428841	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:5428841G>A	uc003soi.4	-	4	963	c.614C>T	c.(613-615)cCa>cTa	p.P205L	TNRC18_uc010ksx.1_Missense_Mutation_p.P131L	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	205							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCTTGGCTGGACCGTCCCG	0.796000														2			3		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206492	49206492	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:49206492C>T	uc002pke.4	+	1	390	c.279C>T	c.(277-279)gcC>gcT	p.A93A	FUT2_uc010emc.3_Silent_p.A93A|FUT2_uc021uwx.1_Silent_p.A93A	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	93					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GGCGGCCCGCCTTCATCCCGG	0.647000														35			10		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761728	130761728	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:130761728C>T	uc003ysr.3	-	12	2139	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	419						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGATCCTCTTCTCCATGGAAC	0.517000														25			19		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32944126	32944126	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:32944126C>T	uc002ntg.3	+	8	1129	c.931C>T	c.(931-933)Ctt>Ttt	p.L311F	DPY19L3_uc002nth.2_Missense_Mutation_p.L311F|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	311						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTCCATGATTCTTGGATCACT	0.338000														24			11		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780201	91780202	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:91780201_91780202GG>AA	uc010aty.3	-	14	2112_2113	c.1958_1959CC>TT	c.(1957-1959)tcc>tTT	p.S653F		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	653					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGTCTCCAGGGAGGTCACCTT	0.629000														5			13		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58332545	58332545	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:58332545G>A	uc002iyo.1	-	9	1351	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	USP32_uc002iyn.1_Silent_p.L25L|USP32_uc010wov.1_Silent_p.L355L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	355					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCTGGAAAAGGAGGTTCAAAA	0.393000														26			17		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925508	47925508	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:47925508G>A	uc003tny.2	-	17	3015	c.2981C>T	c.(2980-2982)cCc>cTc	p.P994L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	994	REJ.				cell-cell adhesion	integral to membrane		p.P994L(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGGGTCACGGGTGAAGGTTC	0.582000														100			25		0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145537167	145537167	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:145537167G>C	uc003lnx.1	-	9	1102	c.864C>G	c.(862-864)ttC>ttG	p.F288L	LARS_uc011dbq.1_Missense_Mutation_p.F242L|LARS_uc011dbr.1_Missense_Mutation_p.F234L|LARS_uc011dbs.1_Missense_Mutation_p.F261L	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	288	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.F288F(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGCCACCAAGAAAATATTTT	0.378000														10			16		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71265043	71265043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:71265043C>T	uc003hfi.3	+	1	215	c.41C>T	c.(40-42)tCa>tTa	p.S14L		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	14					regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GCTCTTATTTCATGTTTCACA	0.318000														9			11		0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114725	177114725	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:177114725G>A	uc003iuo.1	-	1	336	c.227C>T	c.(226-228)tCa>tTa	p.S76L		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	76					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		gaagccatttgaaaaatctct	0.303000														4			15		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739366	38739366	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:38739366C>T	uc003ciq.3	-	26	5345	c.5345G>A	c.(5344-5346)cGa>cAa	p.R1782Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1782					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGTATATTTCGATTGGGTTT	0.473000														59			7		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30409458	30409458	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:30409458C>T	uc002wwq.2	+	3	792	c.690C>T	c.(688-690)ttC>ttT	p.F230F		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	230					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGATTGAGTTCCAGGCTGTTC	0.602000														149			30		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94562988	94562988	+	Silent	SNP	C	T	T	rs150683869	byFrequency	TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:94562988C>T	uc001tdc.3	+	1	1371	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	374	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGATCCATTCCGACCTGACAT	0.423000														36			8		0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102005056	102005056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:102005056C>T	uc022cbi.1	+	0	1133	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	BHLHB9_uc010nog.3_Missense_Mutation_p.S378F|BHLHB9_uc011mrq.2_Missense_Mutation_p.S378F|BHLHB9_uc011mrr.2_Missense_Mutation_p.S378F|BHLHB9_uc011mrs.2_Missense_Mutation_p.S378F|BHLHB9_uc011mrt.2_Missense_Mutation_p.S378F|BHLHB9_uc004ejo.3_Missense_Mutation_p.S378F|BHLHB9_uc011mru.2_Missense_Mutation_p.S378F|BHLHB9_uc011mrv.2_Missense_Mutation_p.S378F	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	378						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGTTTTCCTTCCCCTGAAATG	0.383000														1			22		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12341346	12341346	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:12341346C>T	uc001mkg.1	+	3	1821	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	510					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCCAGCTTTCCTTGCAGTTAA	0.522000														66			30		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96379864	96379864	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:96379864G>A	uc001tem.1	-	12	1423	c.1126C>T	c.(1126-1128)Cac>Tac	p.H376Y	HAL_uc010sux.1_Missense_Mutation_p.H376Y|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.H168Y	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	376					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GATGGGTGGTGATCTGAGTCC	0.433000														19			22		0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149290772	149290772	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:149290772G>A	uc003exf.3	-	2	787	c.447C>T	c.(445-447)atC>atT	p.I149I	WWTR1_uc003exe.3_Silent_p.I149I|WWTR1_uc021xfm.1_Silent_p.I149I|WWTR1_uc003exh.3_Silent_p.I149I	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	149	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.I149N(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCATGTGGTGATTTTTTCTA	0.408000			T	CAMTA1	epitheliod hemangioendothelioma									41			23		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50866095	50866095	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:50866095C>T	uc002lfe.2	+	14	2793	c.2177C>T	c.(2176-2178)cCt>cTt	p.P726L	DCC_uc010xdr.1_Missense_Mutation_p.P574L|DCC_uc010dpf.2_Missense_Mutation_p.P381L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	726	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCAAGTTCCTGATCAACCA	0.428000														65			37		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034141	52034141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:52034141G>A	uc002pwy.3	-	2	708	c.500C>T	c.(499-501)tCt>tTt	p.S167F	SIGLEC6_uc002pwz.3_Missense_Mutation_p.S167F|SIGLEC6_uc010ydb.2_Missense_Mutation_p.S131F|SIGLEC6_uc010ydc.2_Missense_Mutation_p.S167F|SIGLEC6_uc002pxa.3_Missense_Mutation_p.S167F|SIGLEC6_uc010eoz.2_Missense_Mutation_p.S156F|SIGLEC6_uc010epa.2_Missense_Mutation_p.S156F|SIGLEC6_uc010epb.2_Missense_Mutation_p.S120F	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	167	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CCAGGGCACAGAGCAGGTCAG	0.657000														34			51		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939364	47939364	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:47939364G>A	uc003gxu.3	-	9	1495	c.1354C>T	c.(1354-1356)Cta>Tta	p.L452L	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.L383L	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	383					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ACTCCAATTAGGAAATCAACC	0.423000														125			37		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817217	69817217	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:69817217C>T	uc003hef.2	-	0	293	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	88						integral to membrane	glucuronosyltransferase activity	p.E88K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAAATATTTCATTTTCTTCT	0.363000														23			30		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1265952	1265952	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:1265952G>A	uc001lta.3	+	30	7901	c.7842G>A	c.(7840-7842)acG>acA	p.T2614T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2614	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACAACCACGGGCTTCACAG	0.647000														120			82		0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197479735	197479735	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:197479735G>A	uc021pgu.1	-	22	2521	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	DENND1B_uc010ppf.2_Non-coding_Transcript	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	0						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.P292L(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTTCTCCCAAGGAACAAAAGT	0.418000														49			20		0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6021914	6021914	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:6021914C>T	uc002wmo.2	-	4	2201	c.1977G>A	c.(1975-1977)ttG>ttA	p.L659L		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	659	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGGCTGGCTCAAGCCCGCCC	0.726000														22			14		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044515	75044515	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:75044515C>T	uc002ayr.1	+	4	1157	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	365					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CAGACCCCAGCTGCCCTACTT	0.632000														115			39		0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228321	111228321	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:111228321C>T	uc001plg.4	-	3	560	c.305G>A	c.(304-306)tGg>tAg	p.W102*		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	102					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GTAAGGTGTCCATGGGGCCAG	0.642000			T	BCL6	NHL									31			20		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220470753	220470753	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:220470753C>T	uc002vml.3	+	8	897	c.854C>T	c.(853-855)cCa>cTa	p.P285L	STK11IP_uc010zlk.2_Missense_Mutation_p.P274L|STK11IP_uc010zll.2_Missense_Mutation_p.P274L|STK11IP_uc002vmm.1_Missense_Mutation_p.P274L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	285					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCTGTCACCACTGTGGCTG	0.607000											OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		9			6		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103121827	103121827	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:103121827G>A	uc002tbz.4	+	3	1552	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	365					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCGAGACCTTGATCTTCATCT	0.493000														44			19		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132685754	132685754	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:132685754C>T	uc001ukc.4	-	7	1432	c.1316G>A	c.(1315-1317)aGg>aAg	p.R439K	GALNT9_uc009zyr.3_Missense_Mutation_p.R213K|GALNT9_uc001ukb.3_Missense_Mutation_p.R296K|GALNT9_uc001uka.3_Missense_Mutation_p.R73K	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	439					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ACACTTCAGCCTCTGACGCAG	0.597000														26			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061149	9061149	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9061149G>A	uc002mkp.3	-	2	26501	c.26297C>T	c.(26296-26298)tCc>tTc	p.S8766F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8768	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I8765I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTTCCGTGGAGATTTCTGG	0.507000														57			32		0	0	1	0	0
TRIB1	10221	broad.mit.edu	37	8	126448372	126448372	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:126448372T>C	uc003yrx.3	+	2	1360	c.778T>C	c.(778-780)Tac>Cac	p.Y260H	TRIB1_uc011lis.2_Missense_Mutation_p.Y94H|TRIB1_uc010mdn.3_Missense_Mutation_p.Y29H|TRIB1_uc022bay.1_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	260	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CACTGGGACCTACTCCGGAAA	0.547000														27			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407270	179407270	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179407270C>T	uc021vsy.1	-	297	89734	c.89509G>A	c.(89509-89511)Gga>Aga	p.G29837R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G23532R|TTN_uc021vta.1_Missense_Mutation_p.G23465R|TTN_uc021vtb.1_Missense_Mutation_p.G23340R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30764	Fibronectin type-III 117.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATAGGTCCTGTTGGTGGA	0.393000														20			19		0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52656675	52656675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:52656675C>T	uc003paz.3	-	6	762	c.650G>A	c.(649-651)aGg>aAg	p.R217K	GSTA1_uc021zan.1_3'UTR	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	217					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GAAAATCTTCCTTGCTTCTTC	0.418000														67			21		0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966667	132966667	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:132966667A>T	uc003qdm.1	-	0	476	c.476T>A	c.(475-477)aTc>aAc	p.I159N		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	159						plasma membrane		p.I159L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CTCCAGAAAGATCATTCCAAA	0.388000														32			34		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703589	4703589	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:4703589G>A	uc001lzk.2	-	1	597	c.353C>T	c.(352-354)gCc>gTc	p.A118V	OR51E2_uc021qcr.1_Missense_Mutation_p.A118V	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACGGTCAAAGGCCATGGCCAG	0.532000														28			23		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030890	33030890	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:33030890G>A	uc001rlj.4	-	2	1039	c.924C>T	c.(922-924)gtC>gtT	p.V308V	PKP2_uc001rlk.4_Silent_p.V308V|PKP2_uc010skj.2_Silent_p.V308V	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	308					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AATCCACGGCGACACTGGGCC	0.637000														28			33		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703301	30703301	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:30703301G>A	uc003xil.3	-	0	3233	c.3233C>T	c.(3232-3234)cCa>cTa	p.P1078L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1078										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATCAGCTTTTGGAGCTCTTTT	0.333000														31			18		0	0	1	0	0
NAMPT	10135	broad.mit.edu	37	7	105893480	105893480	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:105893480G>A	uc003vdq.3	-	9	1656	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F		NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	450					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCTCAAGGTCTCCTTTT	0.398000														43			26		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49701475	49701475	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:49701475C>T	uc021zai.1	-	4	521	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CRISP3_uc003ozs.3_Missense_Mutation_p.D135N	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	122					innate immune response	proteinaceous extracellular matrix|specific granule		p.W144L(1)|p.D122Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGTCAAAATCATTGTACTCA	0.428000														39			14		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22225352	22225352	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:22225352G>A	uc001mqi.2	+	1	360	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	ANO5_uc001mqj.2_Missense_Mutation_p.E15K	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	15						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.G14G(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAATTTAGGGGAAAAAGTCAA	0.269000														10			3		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47971644	47971644	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:47971644C>T	uc002zjo.2	+	23	3120	c.2937C>T	c.(2935-2937)gaC>gaT	p.D979D	DIP2A_uc011afy.1_Silent_p.D915D|DIP2A_uc011afz.1_Silent_p.D975D	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	979					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AGGACAGCGACCAGGCACGGA	0.637000														18			7		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219483376	219483376	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:219483376C>T	uc021vwx.1	+	3	595	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	PLCD4_uc021vww.1_Non-coding_Transcript|PLCD4_uc002vik.1_5'Flank|PLCD4_uc010zkk.1_5'Flank	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	86	PH.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGGAGCTCCCCCTGGAGCA	0.572000														33			15		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171641	150171641	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:150171641G>A	uc003whj.3	+	3	1554	c.1224G>A	c.(1222-1224)gaG>gaA	p.E408E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	408						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAGAAGAAGAGCAAAGGCAGG	0.418000														60			42		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825489	4825489	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:4825489G>A	uc021qcs.1	-	0	122	c.122C>T	c.(121-123)gCt>gTt	p.A41V		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAACAACAGCCACAGCATA	0.512000														21			13		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235631	102235631	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:102235631C>T	uc001vpb.3	+	5	1012	c.793C>T	c.(793-795)Cat>Tat	p.H265Y	ITGBL1_uc010agb.3_Missense_Mutation_p.H216Y|ITGBL1_uc001vpc.4_Missense_Mutation_p.H124Y	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	265	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGAGATATTCATGGGGACAC	0.458000														87			94		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	163032490	163032490	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:163032490C>T	uc003iqh.3	-	1	495	c.59G>A	c.(58-60)gGa>gAa	p.G20E	FSTL5_uc003iqi.3_Missense_Mutation_p.G20E|FSTL5_uc010iqv.3_Missense_Mutation_p.G20E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	20						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGTTGGCCTTCCTTCCGACTC	0.403000														33			43		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130410155	130410155	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:130410155G>A	uc004ewe.4	-	14	2974	c.2691C>T	c.(2689-2691)atC>atT	p.I897I	IGSF1_uc004ewd.3_Silent_p.I892I|IGSF1_uc022cdv.1_Silent_p.I883I|IGSF1_uc004ewf.2_Silent_p.I872I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	892	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCAGCGCAGGATCACACTCT	0.537000														8			50		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104140482	104140482	+	Splice_Site	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:104140482G>A	uc001tjw.3	+	58	6430	c.6244_splice	c.e58+1	p.V2082_splice	STAB2_uc009zug.3_Splice_Site	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2082	EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACATGCACAGGTAAGCCACC	0.527000														68			69		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603398	101603398	+	Missense_Mutation	SNP	C	T	T	rs150527729		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:101603398C>T	uc001thz.4	-	0	619	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	77					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGGTAGACCTCGGAGGGGGTG	0.587000														43			11		0	0	1	0	0
C7orf58	79974	broad.mit.edu	37	7	120770249	120770249	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:120770249G>A	uc003vjq.4	+	11	1925	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	C7orf58_uc003vjr.1_Missense_Mutation_p.G493E|C7orf58_uc003vjs.4_Missense_Mutation_p.G493E|C7orf58_uc003vjt.4_Missense_Mutation_p.G273E|C7orf58_uc010lkk.2_Missense_Mutation_p.G273E	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	493						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AATCCTGTGGGAAATCCTGGC	0.393000														46			23		0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126134947	126134947	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:126134947G>A	uc001qdh.3	-	10	1610	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	SRPR_uc010sbm.2_Missense_Mutation_p.P450S	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	478					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TGCTTCTCTGGAGGGTGTAGG	0.552000														24			12		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83402469	83402469	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:83402469G>A	uc003kio.1	-	5	1068	c.649C>T	c.(649-651)Cag>Tag	p.Q217*	EDIL3_uc003kip.1_Nonsense_Mutation_p.Q207*	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	217	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCTGTTACCTGAATCCACGGC	0.393000														56			24		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103388895	103388895	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:103388895G>A	uc001dum.3	-	46	4005	c.3687C>T	c.(3685-3687)ccC>ccT	p.P1229P	COL11A1_uc001duk.3_Silent_p.P413P|COL11A1_uc001dul.3_Silent_p.P1217P|COL11A1_uc001dun.3_Silent_p.P1178P|COL11A1_uc009weh.3_Silent_p.P1101P	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1217	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACTTACCATGGGACCAACAT	0.338000														6			10		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41738568	41738568	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:41738568C>T	uc003azw.3	+	11	1449	c.1233C>T	c.(1231-1233)atC>atT	p.I411I		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	427					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTTGCTCATCAAGAACCCCT	0.602000														19			27		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26219498	26219498	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:26219498G>A	uc003abz.1	+	12	2798	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	MYO18B_uc003aca.1_Missense_Mutation_p.E731K|MYO18B_uc010guy.1_Missense_Mutation_p.E731K|MYO18B_uc010guz.1_Missense_Mutation_p.E731K|MYO18B_uc011aka.1_Missense_Mutation_p.E4K|MYO18B_uc011akb.1_Missense_Mutation_p.E363K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	850	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CATGAGGTTTGAGTGGGCAAA	0.572000														64			41		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57865805	57865805	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:57865805G>T	uc003hcl.1	+	6	801	c.758G>T	c.(757-759)gGt>gTt	p.G253V	POLR2B_uc011cae.1_Missense_Mutation_p.G246V|POLR2B_uc011caf.1_Missense_Mutation_p.G178V	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	253					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGTGCTATTGGTCAGCGCATT	0.353000														21			40		2.00842e-17	2.03295e-17	1	1	0
STAB2	55576	broad.mit.edu	37	12	104121068	104121068	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:104121068C>T	uc001tjw.3	+	46	5061	c.4875C>T	c.(4873-4875)gtC>gtT	p.V1625V	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1625	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGATCTGGTCGGCCCAGGCC	0.527000														156			57		0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	49710905	49710905	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:49710905G>A	uc002itv.4	-	8	1650	c.914C>T	c.(913-915)aCc>aTc	p.T305I	CA10_uc002itw.4_Missense_Mutation_p.T299I|CA10_uc002itx.4_Missense_Mutation_p.T299I|CA10_uc002ity.4_Missense_Mutation_p.T299I|CA10_uc002itz.2_Missense_Mutation_p.T299I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	299					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTTGATATTGGTGCGGATGCA	0.527000														41			37		0	0	1	0	0
TSPAN32	10077	broad.mit.edu	37	11	2338710	2338710	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:2338710G>T	uc001lvy.1	+	8	993	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.D256Y|TSPAN32_uc001lwb.1_Intron|TSPAN32_uc001lwc.1_Missense_Mutation_p.D231Y|TSPAN32_uc001lwd.1_Missense_Mutation_p.D218Y	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	286					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCAGGAGAGCGATGCTGCGCC	0.632000														4			5		1	1	1	1	0
SERPINA10	51156	broad.mit.edu	37	14	94754772	94754772	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:94754772C>T	uc001yct.3	-	2	1309	c.843G>A	c.(841-843)aaG>aaA	p.K281K	SERPINA10_uc001ycu.4_Silent_p.K281K	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	281					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACGAAAATTCTTGTCAAAGG	0.502000														12			20		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202715047	202715047	+	Silent	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:202715047A>G	uc009xag.3	-	16	2486	c.2370T>C	c.(2368-2370)tcT>tcC	p.S790S	KDM5B_uc001gyf.3_Silent_p.S754S|KDM5B_uc001gyg.1_Silent_p.S596S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	754					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATTCGTTGTAAGATTCTGCTC	0.413000														43			115		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113986	161113986	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:161113986G>A	uc003lyu.2	+	2	540	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	68					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GACCAGTTTTGGGCCCGTGTC	0.443000										TCGA Ovarian(5;0.080)				33			4		0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141296383	141296383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:141296383C>T	uc003vwi.2	+	3	334	c.163C>T	c.(163-165)Cct>Tct	p.P55S	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	55					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TCAACTCATTCCTCCCAATGC	0.358000														42			39		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1918700	1918700	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:1918700G>A	uc003gdz.4	+	3	1039	c.863G>A	c.(862-864)gGa>gAa	p.G288E	WHSC1_uc003geb.4_Missense_Mutation_p.G288E|WHSC1_uc003gec.4_Missense_Mutation_p.G288E|WHSC1_uc003ged.4_Missense_Mutation_p.G288E|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.G288E|WHSC1_uc003gdy.1_Missense_Mutation_p.G288E|WHSC1_uc010icd.1_Missense_Mutation_p.G288E|WHSC1_uc003gea.1_Missense_Mutation_p.G288E|WHSC1_uc010ice.1_Missense_Mutation_p.G288E|WHSC1_uc003geh.1_Missense_Mutation_p.G288E	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	288					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAGGAGAAGGACAGTTTGAA	0.448000			T	IGH@	MM									20			24		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897471	153897471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:153897471C>T	uc003inf.2	+	10	3103	c.3028C>T	c.(3028-3030)Cct>Tct	p.P1010S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1010					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTCCGAGGGCCCTGAGAGTCC	0.622000														45			51		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829272	115829272	+	Missense_Mutation	SNP	G	A	A	rs146716262		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:115829272G>A	uc021osd.1	-	0	145	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	NGF_uc001efu.1_Missense_Mutation_p.R49C	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	49					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding	p.R49C(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGGGCTCTGCGAAGGGCAGTG	0.612000														29			54		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564554	66564554	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:66564554G>A	uc002lkk.2	+	7	1375	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	CCDC102B_uc002lki.2_Silent_p.K384K|CCDC102B_uc002lkj.1_Silent_p.K384K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	384										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAAGGCTGAAGATCCAGGTGA	0.398000														63			56		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31592661	31592661	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:31592661G>A	uc011kae.2	+	1	113	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CCDC129_uc011kad.1_Missense_Mutation_p.G18E|CCDC129_uc003tcj.1_Missense_Mutation_p.G8E|CCDC129_uc003tci.1_Missense_Mutation_p.G7E|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	8										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAATCACAAGGATCTGACAAC	0.488000														7			5		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788937	13788937	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:13788937C>T	uc003jfd.2	-	50	8577	c.8535G>A	c.(8533-8535)aaG>aaA	p.K2845K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2845					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTACTAAAGCCTTATCAAACC	0.403000									Kartagener syndrome					15			28		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23793972	23793972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:23793972C>T	uc003sws.4	+	9	1239	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	STK31_uc003swt.4_Missense_Mutation_p.S368L|STK31_uc011jze.2_Missense_Mutation_p.S391L|STK31_uc010kuq.3_Missense_Mutation_p.S368L	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	391							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAAGACCTTTCAGATGCTATA	0.378000														70			33		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108636170	108636170	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:108636170C>T	uc022cch.1	-	11	2624	c.2539G>A	c.(2539-2541)Gaa>Aaa	p.E847K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.E847K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	847					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTTCAATTTCCAGCTCTTCA	0.403000														10			54		0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969247	240969247	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:240969247G>A	uc010zoc.2	-	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F	OR6B2_uc002vyr.3_Silent_p.F200F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGGCCAGGATGAAATCCACCA	0.572000														23			27		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579897	35579897	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:35579897C>T	uc003xjr.2	+	8	1615	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	UNC5D_uc003xjs.2_Silent_p.F424F|UNC5D_uc003xju.2_5'Flank|UNC5D_uc003xjt.1_Silent_p.F187F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	429					apoptosis|axon guidance	integral to membrane	receptor activity	p.R428S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCTTCAACTTCAAAACAGTCC	0.552000														79			49		0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99355100	99355100	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:99355100C>T	uc003htw.4	+	12	1647	c.1457C>T	c.(1456-1458)aCc>aTc	p.T486I	RAP1GDS1_uc003htx.4_Missense_Mutation_p.T485I|RAP1GDS1_uc003htv.4_Missense_Mutation_p.T485I|RAP1GDS1_uc003htz.4_Missense_Mutation_p.T436I|RAP1GDS1_uc003hty.4_Missense_Mutation_p.T437I|RAP1GDS1_uc003hua.4_Missense_Mutation_p.T394I	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	485							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTAATTAAAACCATTGTGCAG	0.333000			T	NUP98	T-ALL									28			13		0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44105063	44105063	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:44105063C>T	uc009yks.1	+	13	1488	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Silent_p.F448F	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	448							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GCAAGGCCTTCGAGTGTAAAG	0.572000														37			22		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1507320	1507320	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:1507320A>G	uc002clv.2	-	8	867	c.757T>C	c.(757-759)Tca>Cca	p.S253P	CLCN7_uc002clw.2_Missense_Mutation_p.S229P	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	253						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				ACTGAACCTGAGTGGATCATC	0.567000														37			37		0	0	1	0	0
FGF1	2246	broad.mit.edu	37	5	141974939	141974939	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:141974939C>T	uc003lmm.3	-	3	464	c.384G>A	c.(382-384)aaG>aaA	p.K128K	FGF1_uc011dbi.2_3'UTR|FGF1_uc003lmn.4_Silent_p.K128K|FGF1_uc003lmp.4_3'UTR|FGF1_uc003lmq.3_Silent_p.K128K|FGF1_uc010jgj.3_Silent_p.K127K|FGF1_uc003lmr.3_Silent_p.K128K|FGF1_uc003lms.4_Silent_p.K128K|FGF1_uc021yew.1_3'UTR	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	128	Heparin-binding.				angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	AGCTCCCATTCTTCTTGAGGC	0.468000														27			28		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	T	T	rs35647804		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:179465822C>T	uc021vsy.1	-	236	48330	c.48105G>A	c.(48103-48105)ccG>ccA	p.P16035P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P9730P|TTN_uc021vta.1_Silent_p.P9663P|TTN_uc021vtb.1_Silent_p.P9538P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16962	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTCTTCGGGGGTTTCC	0.458000														55			24		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079873	70079873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr4:70079873G>A	uc003heh.3	-	0	577	c.568C>T	c.(568-570)Cct>Tct	p.P190S	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	190					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TAGGAAGGAGGGAAAATCAGT	0.403000														37			55		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907160	29907160	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:29907160G>A	uc010vec.2	-	3	778	c.533C>T	c.(532-534)tCc>tTc	p.S178F	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.S108F|SEZ6L2_uc002dur.4_Missense_Mutation_p.S108F|SEZ6L2_uc002duq.4_Missense_Mutation_p.S178F|SEZ6L2_uc010ved.2_Missense_Mutation_p.S134F|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	178	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane		p.S178S(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCGCCCTCGGAGATGTTGTT	0.562000														61			34		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028152	248028153	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:248028152_248028153GG>AA	uc001ido.3	+	2	710_711	c.662_663GG>AA	c.(661-663)cgg>cAA	p.R221Q		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	221						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCAAGAGCCGGCTGGTCCAGC	0.688000														16			7		0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19028787	19028787	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr22:19028787G>A	uc002zoq.1	-	8	1428	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	DGCR2_uc021wkx.1_Missense_Mutation_p.R391C|DGCR2_uc021wky.1_Missense_Mutation_p.R353C|DGCR2_uc021wkz.1_Missense_Mutation_p.R170C|DGCR2_uc011agr.1_Missense_Mutation_p.R350C|DGCR2_uc002zor.1_Missense_Mutation_p.R170C	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	394					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGGATCCTGCGGCCGAGGTTG	0.622000														44			25		0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99182645	99182645	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:99182645G>A	uc001yfz.2	+	2	536	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_182560	NP_872366	Q52M58	CN177_HUMAN	Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA.	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TTGGTGAAGGGAAATGCCCAA	0.552000														7			25		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89520410	89520410	+	Silent	SNP	G	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:89520410G>T	uc001dmx.2	-	9	1840	c.1620C>A	c.(1618-1620)gtC>gtA	p.V540V		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	540					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)		TCAGCAACTGGACCCTGTCGT	0.433000														117			265		2.53866e-96	2.57899e-96	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47480802	47480803	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:47480802_47480803GG>AA	uc002leb.2	-	12	1836_1837	c.1548_1549CC>TT	c.(1546-1551)gtcccc>gtTTcc	p.P517S	MYO5B_uc021ukb.1_Missense_Mutation_p.P516S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	517	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTTCCTTTGGGGACCTGCAGAA	0.569000														40			22		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222823646	222823646	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:222823646A>G	uc001hnl.3	+	8	3653	c.3644A>G	c.(3643-3645)cAa>cGa	p.Q1215R	MIA3_uc009xea.1_Missense_Mutation_p.Q1051R|MIA3_uc001hnm.3_Missense_Mutation_p.Q93R	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1215					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACGGAACAGCAAATTTCTGAG	0.274000														6			12		0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30557643	30557643	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:30557643G>A	uc003nql.3	+	21	2220	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	ABCF1_uc003nqm.3_Missense_Mutation_p.E671K	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	709	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GACGCCCACTGAGTACCTGCA	0.597000														87			104		0	0	1	0	0
MREG	55686	broad.mit.edu	37	2	216809596	216809596	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:216809596G>A	uc002vfo.3	-	4	931	c.635C>T	c.(634-636)cCa>cTa	p.P212L		NM_018000	NP_060470	Q8N565	MREG_HUMAN	Homo sapiens melanoregulin (MREG), mRNA.	212						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		TTAGGGACTTGGAAACGGAAG	0.498000														23			14		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178418523	178418523	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:178418523C>T	uc003mjr.3	-	2	938	c.759G>A	c.(757-759)agG>agA	p.R253R	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	253					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTTTGGTTCCCTGGGAATCT	0.592000														119			91		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064338	9064338	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:9064338G>A	uc002mkp.3	-	2	23312	c.23108C>T	c.(23107-23109)tCc>tTc	p.S7703F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7705	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						GAATGTGGTGGAAACAGGATG	0.562000														44			20		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045560	42045560	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:42045560G>A	uc001cgz.4	-	3	6122	c.4909C>T	c.(4909-4911)Ccc>Tcc	p.P1637S	HIVEP3_uc001cha.4_Missense_Mutation_p.P1637S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1637					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTTGGGGTTGTACAAA	0.483000														76			14		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436587	72436587	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:72436587C>T	uc002jkp.3	+	1	1318	c.807C>T	c.(805-807)ttC>ttT	p.F269F	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.F236F|GPRC5C_uc002jkt.3_Silent_p.F224F|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	224						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGTGCCTTCCTGGGGGCCT	0.642000														32			9		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838605	100838605	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:100838605C>T	uc003pqj.4	-	10	2400	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	SIM1_uc021zdg.1_Missense_Mutation_p.E645K|SIM1_uc010kcu.3_Missense_Mutation_p.E645K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	645	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TAGTCATTTTCATGGGGGCTC	0.478000														185			33		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851871	97851871	+	Silent	SNP	G	A	A	rs113686881		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:97851871G>A	uc011bgt.2	+	0	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTGTAACCACGGAATGTTTTC	0.408000														95			54		0	0	1	0	0
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:133098622G>A	uc003epi.3	+	3	337	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_uc003eph.3_Missense_Mutation_p.E23K|TMEM108_uc003epj.1_Missense_Mutation_p.E23K|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	23						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552000														239			169		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830330	61830330	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr10:61830330G>A	uc001jky.3	-	36	10647	c.10309C>T	c.(10309-10311)Caa>Taa	p.Q3437*	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3437					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCATGGCTTGAATTGGGAGT	0.448000														15			31		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457377	45457377	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:45457377G>A	uc001rol.3	-	0		c.1818C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CTGTGACAGGGAACTAGATGA	0.463000														17			16		0	0	1	0	0
C1orf61	10485	broad.mit.edu	37	1	156374372	156374372	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:156374372G>A	uc001fou.1	-	6	718	c.445C>T	c.(445-447)Cat>Tat	p.H149Y	BC016978_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Non-coding_Transcript|C1orf61_uc001fow.1_Non-coding_Transcript|C1orf61_uc001fox.1_Non-coding_Transcript	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	149						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					CCAACCAGATGAAGTACATTC	0.423000														59			5		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65423252	65423252	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:65423252G>A	uc011moz.2	+	12	2423	c.2286G>A	c.(2284-2286)ggG>ggA	p.G762G	HEPH_uc004dwn.3_Silent_p.G711G|HEPH_uc004dwo.3_Silent_p.G441G|HEPH_uc010nkr.3_Silent_p.G519G|HEPH_uc011mpa.2_Silent_p.G711G|HEPH_uc010nks.3_5'UTR	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	708	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GAGAAGCAGGGATGAGGGCAA	0.512000														11			20		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770125	15770125	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:15770125C>T	uc010xok.2	+	12	1543	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L	CYP4F3_uc010xol.2_Missense_Mutation_p.P498L|CYP4F3_uc002nbj.3_Missense_Mutation_p.P498L|CYP4F3_uc010xom.2_Missense_Mutation_p.P349L|CYP4F3_uc002nbk.3_Missense_Mutation_p.P498L|CYP4F3_uc010xon.2_Missense_Mutation_p.P208L	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	498					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CACACCGAGCCCCGCAGGAAG	0.672000														19			11		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168620520	168620520	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:168620520C>T	uc010jjg.3	-	3	796	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	SLIT3_uc003mab.3_Missense_Mutation_p.E126K|SLIT3_uc010jji.2_Missense_Mutation_p.E126K	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	126					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAAGCAATTCTGGAAGGACT	0.478000														37			25		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114657	40114657	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:40114657G>A	uc001rmc.3	+	12	1730	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	521										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCAAAACCAAGGAAAAAATGA	0.299000														40			17		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339842	29339842	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:29339842C>T	uc002kxa.2	-	0	1002	c.783G>A	c.(781-783)cgG>cgA	p.R261R		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	261					transport	integral to membrane|mitochondrial inner membrane											GTTTTCTGTCCCGTTCCAGCC	0.408000														27			10		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281733	49281733	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr13:49281733C>T	uc010acw.1	+	1	1070	c.780C>T	c.(778-780)ttC>ttT	p.F260F	CYSLTR2_uc010acx.1_Silent_p.F260F|CYSLTR2_uc010acy.1_Silent_p.F260F|CYSLTR2_uc010acz.1_Silent_p.F260F|CYSLTR2_uc010ada.1_Silent_p.F260F|CYSLTR2_uc010adb.1_Silent_p.F260F|CYSLTR2_uc010adc.1_Silent_p.F260F|CYSLTR2_uc010add.1_Silent_p.F260F|CYSLTR2_uc001vck.2_Silent_p.F260F|CYSLTR2_uc021rjl.1_Silent_p.F260F	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	260					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TCTTGTGTTTCCTGCCCTATC	0.488000														47			15		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30721365	30721365	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30721365C>T	uc002dze.1	+	7	1435	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P	SRCAP_uc021tgn.1_Silent_p.P350P|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P207P|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	350	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTTCCAGCCCCTCTCAAACCC	0.577000														30			28		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580520	140580520	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:140580520C>T	uc003liy.3	+	0	1173	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	391	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTCCCATTCGTGCTAAAAT	0.453000														71			39		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51981545	51981545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr15:51981545G>A	uc002abh.3	+	5	1073	c.670G>A	c.(670-672)Gga>Aga	p.G224R	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	224					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GAATCAGGCTGGAAAAATACC	0.403000														12			15		0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152894	158152894	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:158152894C>T	uc001frr.3	+	4	1333	c.834C>T	c.(832-834)tcC>tcT	p.S278S	CD1D_uc009wss.3_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	278	Ig-like.				T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGGCCTGTCCTGTCGGGTGA	0.607000														38			87		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19725220	19725220	+	Splice_Site	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:19725220C>T	uc002ykw.3	-	10	1202	c.1171_splice	c.e10+1	p.G391_splice		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	391	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGAATTATACCTGAAGCATTG	0.348000														63			33		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312269	31312269	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:31312269G>A	uc001msv.3	-	6	1123	c.885C>T	c.(883-885)gtC>gtT	p.V295V	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	295					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACAGAATTCGGACTGAGGTCC	0.373000														38			10		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052857	90052857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:90052857C>T	uc003kju.3	+	56	11915	c.11819C>T	c.(11818-11820)cCt>cTt	p.P3940L	GPR98_uc003kjt.3_Missense_Mutation_p.P1646L|GPR98_uc003kjv.3_Missense_Mutation_p.P1540L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3940					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTCAAGTTCCTGTAGTCCGG	0.448000														28			25		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573152	90573152	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:90573152C>T	uc003pnr.3	+	6	1920	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.S575F|CASP8AP2_uc011dzz.2_Missense_Mutation_p.S575F	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	575					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAACCTGTTTCCCAGGATAAT	0.368000														4			11		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722282	58722282	+	Missense_Mutation	SNP	C	T	T	rs151204927		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:58722282C>T	uc001nnh.2	+	4	369	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	GLYATL1_uc001nnf.3_Missense_Mutation_p.R76C|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R76C|GLYATL1_uc001nnj.2_Missense_Mutation_p.R76C	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	76						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AAACGTATATCGTATGTTCTC	0.383000														42			25		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992888	124992888	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:124992888C>T	uc003yqw.3	+	10	1453	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	416						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTAAATTTTCCAAGGCCCTG	0.458000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			49		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113286151	113286151	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:113286151G>A	uc001pnz.3	-	3	1036	c.715C>T	c.(715-717)Cca>Tca	p.P239S	DRD2_uc010rwv.2_Missense_Mutation_p.P238S|DRD2_uc001poa.4_Missense_Mutation_p.P239S|DRD2_uc001pob.4_Missense_Mutation_p.P239S|DRD2_uc009yyr.1_Missense_Mutation_p.P239S	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	239	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.A238A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ACCTTTAGTGGAGCCCTCAGG	0.572000														88			54		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853586	12853586	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:12853586G>A	uc001auj.2	+	1	313	c.210G>A	c.(208-210)atG>atA	p.M70I		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	70										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GATCACTGATGAAGACGCTTC	0.557000														147			24		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054378	21054378	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:21054378G>A	uc010sil.2	+	12	1907	c.1842G>A	c.(1840-1842)agG>agA	p.R614R	SLCO1B3_uc001rek.3_Silent_p.R614R|SLCO1B3_uc001rel.3_Silent_p.R614R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	614					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGGCTTGTAGGATATATAATT	0.348000														34			14		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9536284	9536284	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:9536284C>T	uc010coc.3	+	10	1513	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	WDR16_uc002gly.3_Silent_p.I418I|WDR16_uc002glz.3_Silent_p.I350I			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	418						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTCACAGGATCGGCGTCACCG	0.507000														12			29		0	0	1	0	0
GFRA4	64096	broad.mit.edu	37	20	3640612	3640612	+	Missense_Mutation	SNP	C	T	T	rs141342254		TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:3640612C>T	uc002wio.3	-	4	844	c.844G>A	c.(844-846)Gag>Aag	p.E282K	GFRA4_uc002win.3_Missense_Mutation_p.E252K	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	282						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						GAGCGTCTCTCCAGGGCCCTG	0.642000														1			5		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104473036	104473036	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr14:104473036G>A	uc001yom.4	+	16	1963	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	TDRD9_uc001yon.4_Missense_Mutation_p.D383N	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	645					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GCAGCATCTCGATGGATATAG	0.338000														3			14		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359707	71359707	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:71359707C>T	uc011mqa.2	+	5	2309	c.2309C>T	c.(2308-2310)tCa>tTa	p.S770L	NHSL2_uc004eak.1_Missense_Mutation_p.S404L|NHSL2_uc010nli.2_Missense_Mutation_p.S539L	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	770										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCACGGCTATCATTTGACCTA	0.527000														1			23		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56220346	56220346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:56220346G>A	uc002qly.3	-	8	2936	c.2908C>T	c.(2908-2910)Ccc>Tcc	p.P970S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	970						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTCAGATGGGGAATTTTTTCT	0.413000														20			11		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19318512	19318512	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:19318512G>A	uc010vyw.2	+	10	1519	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.E313K	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	430							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCTAGCTCAGGAAATCAAGGT	0.657000														14			28		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328171	23328171	+	RNA	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr19:23328171G>A	uc002nrb.1	+	3		c.524G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.									p.E109K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATGTAGACATGAGAATTTACT	0.333000														11			5		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114054	11114054	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:11114054C>T	uc021tcy.1	+	11	1538	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	CLEC16A_uc002dan.4_Silent_p.I418I|CLEC16A_uc002dao.3_Silent_p.I434I	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	436								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTCCAGAGATCGAGATGGTGA	0.517000														28			23		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101344500	101344500	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:101344500C>T	uc001pgk.4	-	6	2174	c.1749G>A	c.(1747-1749)agG>agA	p.R583R	TRPC6_uc009ywy.3_Silent_p.R467R|TRPC6_uc009ywz.1_Silent_p.R528R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	583					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCACTTTATCCTGGCTAGGA	0.333000														50			15		0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746136	111746137	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:111746136_111746137GT>AC	uc001pmc.4	-	4	1709_1710	c.1384_1385AC>GT	c.(1384-1386)act>GTt	p.T462V	ALG9_uc010rwo.2_Intron|FDXACB1_uc009yyi.3_Missense_Mutation_p.T313V	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	462					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TAGATCCTCAGTACAATCTGGG	0.376000														29			30		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211898	72211898	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:72211898G>A	uc003xyu.3	-	7	1254	c.614C>T	c.(613-615)tCc>tTc	p.S205F	EYA1_uc003xyt.4_Missense_Mutation_p.S172F|EYA1_uc003xyr.4_Missense_Mutation_p.S200F|EYA1_uc010lzf.3_Missense_Mutation_p.S132F|EYA1_uc003xys.4_Missense_Mutation_p.S205F|EYA1_uc011lfe.2_Missense_Mutation_p.S199F|EYA1_uc003xyv.3_Missense_Mutation_p.S83F	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	205					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AAATCCAGAGGAATTTGTGAG	0.299000														40			24		0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745073	42745073	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:42745073G>A	uc002iha.3	+	4	2014	c.1794G>A	c.(1792-1794)ggG>ggA	p.G598G	C17orf104_uc002igy.1_Silent_p.G432G|C17orf104_uc002igz.3_Silent_p.G432G|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	598										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGAAGTATGGGATAATTGAAA	0.353000														12			7		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5841679	5841679	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:5841679C>T	uc010qzp.2	+	0	114	c.114C>T	c.(112-114)atC>atT	p.I38I	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTATGTACATCATTGCTGTCG	0.557000														48			39		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41561058	41561058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr21:41561058C>T	uc002yyq.1	-	11	2916	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	822	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCCTTCTCCCAGCGGACT	0.512000														63			44		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311429	124311429	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr12:124311429G>A	uc001uft.4	+	23	4046	c.4021G>A	c.(4021-4023)Gag>Aag	p.E1341K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1341	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGAAAAACGAGGCACTAAG	0.428000														26			26		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46627775	46627775	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:46627775G>A	uc002inn.3	-	1	1617	c.1217C>T	c.(1216-1218)aCc>aTc	p.T406I	HOXB3_uc010wlm.2_Missense_Mutation_p.T333I|HOXB3_uc010dbf.3_Missense_Mutation_p.T406I|HOXB3_uc010dbg.3_Missense_Mutation_p.T406I|HOXB3_uc002ino.3_Missense_Mutation_p.T406I|HOXB3_uc010wlk.2_Missense_Mutation_p.T274I|HOXB3_uc010wll.2_Missense_Mutation_p.T333I	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	406					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GTCTGTGTAGGTGGGGTGGGG	0.612000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			53		0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52615490	52615490	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr6:52615490T>C	uc003pay.3	-	6	704	c.554A>G	c.(553-555)aAa>aGa	p.K185R		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	185	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GATTCTGGTTTTCAGGGCCTG	0.493000														54			36		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31212743	31212743	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:31212743G>A	uc001bsc.2	-	3	391	c.300C>T	c.(298-300)atC>atT	p.I100I	MIR4420_uc021okj.1_5'Flank	NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	100					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GATAGTCCATGATTTGCAGGG	0.612000														36			5		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46900826	46900826	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:46900826G>A	uc001ndn.4	-	20	3098	c.2855C>T	c.(2854-2856)aCc>aTc	p.T952I		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	952					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCATAGAGGGTCAGCCCAAA	0.577000														49			32		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219874667	219874667	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:219874667C>T	uc002vjl.1	-	26	4533	c.4449G>A	c.(4447-4449)ggG>ggA	p.G1483G		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1483						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTCACCTCCCCAAAATCTA	0.572000														21			12		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48201473	48201473	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:48201473G>A	uc002eff.1	-	27	4340	c.3990C>T	c.(3988-3990)ctC>ctT	p.L1330L	ABCC11_uc002efg.1_Silent_p.L1330L|ABCC11_uc002efh.1_Silent_p.L1292L|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1330	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGCAATGACGAGCACGGTGC	0.567000														51			43		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559838	44559838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:44559838C>T	uc002lcr.1	-	0	2151	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	600	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q599E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTTTTGTTTTCCTGTGGCTTT	0.493000														59			33		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41010076	41010076	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:41010076G>A	uc003jmj.4	-	30	3731	c.3241C>T	c.(3241-3243)Cac>Tac	p.H1081Y	HEATR7B2_uc003jmi.4_Missense_Mutation_p.H636Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1081							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTATCCATGTGAAAGCTGGCT	0.438000														45			16		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982099	7982099	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr11:7982099G>A	uc001mfv.1	-	1	1077	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	354	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAAATGCCTGGAACCTGACAC	0.507000														40			29		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33500980	33500980	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr20:33500980C>T	uc010gey.2	+	2	577	c.456C>T	c.(454-456)ctC>ctT	p.L152L	ACSS2_uc002xbc.2_Silent_p.L57L|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Silent_p.L152L|ACSS2_uc002xbe.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	152					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAATGTTCTCCGAAAACAGG	0.532000														75			32		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110820146	110820146	+	Silent	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr5:110820146G>A	uc003kpf.3	+	10	1639	c.1404G>A	c.(1402-1404)gtG>gtA	p.V468V	CAMK4_uc010jbv.3_Silent_p.V271V|CAMK4_uc003kpg.3_Silent_p.V159V	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	468					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AGCAAGATGTGATCCTGCCAG	0.498000														20			15		0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34850768	34850768	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr18:34850768C>T	uc002lae.2	-	7	1458	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	CELF4_uc021uix.1_Silent_p.A352A|CELF4_uc021uiy.1_Silent_p.A353A|CELF4_uc002lag.2_Silent_p.A344A|CELF4_uc002laf.2_Silent_p.A349A|CELF4_uc002lai.2_Silent_p.A339A|CELF4_uc002lah.2_Silent_p.A79A	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	354					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A354A(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						ACACAGCTTCCGCAGCAGGTT	0.587000														58			23		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120834850	120834850	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:120834850C>T	uc002tmg.3	+	8	863	c.672C>T	c.(670-672)gcC>gcT	p.A224A	EPB41L5_uc010flk.3_Silent_p.A224A|EPB41L5_uc010fll.3_Silent_p.A224A|EPB41L5_uc002tmh.4_Silent_p.A224A|EPB41L5_uc010flm.3_Silent_p.A28A	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	224	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TGAATAAAGCCAAATGGCTAG	0.318000														28			35		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50140565	50140565	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:50140565C>T	uc003cyg.3	+	6	708	c.533C>T	c.(532-534)cCc>cTc	p.P178L	RBM5_uc011bdj.2_Missense_Mutation_p.P122L|RBM5_uc011bdk.2_Missense_Mutation_p.P6L|LUST_uc021wym.1_5'Flank	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	178	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TATAGCAATCCCAGACCTAAG	0.348000														67			36		0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166890214	166890214	+	Silent	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr1:166890214C>T	uc001gdx.2	-	8	1670	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	538						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CGCCCTCGGGCCGCGCCTGGC	0.761000														6			3		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38629035	38629035	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr3:38629035C>T	uc021wvo.1	-	13	2344	c.2292G>A	c.(2290-2292)atG>atA	p.M764I	SCN5A_uc021wvk.1_Missense_Mutation_p.M764I|SCN5A_uc021wvl.1_Missense_Mutation_p.M764I|SCN5A_uc021wvm.1_Missense_Mutation_p.M764I|SCN5A_uc021wvn.1_Missense_Mutation_p.M764I|SCN5A_uc021wvp.1_Missense_Mutation_p.M764I|SCN5A_uc021wvq.1_Missense_Mutation_p.M764I|SCN5A_uc021wvr.1_Missense_Mutation_p.M764I|SCN5A_uc021wvs.1_Missense_Mutation_p.M764I|SCN5A_uc021wvt.1_Missense_Mutation_p.M764I|SCN5A_uc021wvu.1_Missense_Mutation_p.M764I|SCN5A_uc021wvv.1_Missense_Mutation_p.M764I|SCN5A_uc021wvj.1_Missense_Mutation_p.M630I|SCN5A_uc021wvi.1_Missense_Mutation_p.M630I|SCN5A_uc021wvw.1_Missense_Mutation_p.M375I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	764					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTTGAAGGTCATCTCTGCTG	0.542000														37			14		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47376064	47376064	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr17:47376064G>A	uc002iov.4	-	5	1996	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	ZNF652_uc002iow.3_Missense_Mutation_p.S511F|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	511	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GGTGGCTGGGGAAGTTGTAAG	0.562000														45			19		0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	-	-			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr2:242738494_242738496delTCC	uc002wcj.1	+	1	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	20					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													---	102	---	---	7	---					
ATP6V0A4	50617	broad.mit.edu	37	7	138453566	138453566	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:138453566delT	uc003vuf.3	-	3	488	c.250delA	c.(250-252)agcfs	p.S84fs	ATP6V0A4_uc003vug.3_Frame_Shift_Del_p.S84fs|ATP6V0A4_uc003vuh.3_Frame_Shift_Del_p.S84fs	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	84					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTCAGTGGGCTTTTCTCGAGC	0.488													---	30	---	---	25	---					
ZNF777	27153	broad.mit.edu	37	7	149129966	149129968	+	In_Frame_Del	DEL	TCC	-	-			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr7:149129966_149129968delTCC	uc003wfv.3	-	5	1558_1560	c.1395_1397delGGA	c.(1393-1398)gaggat>gat	p.E465del		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	465	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGGCAGctcatcctcctcctcct	0.606													---	9	---	---	5	---					
CHD7	55636	broad.mit.edu	37	8	61764713	61764713	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr8:61764713delT	uc003xue.3	+	28	6293	c.5801delT	c.(5800-5802)ctafs	p.L1934fs	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1934					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAGAGGCCCTAATGAAGACT	0.527													---	57	---	---	38	---					
SETX	23064	broad.mit.edu	37	9	135140315	135140320	+	In_Frame_Del	DEL	TAATAA	-	-			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr9:135140315_135140320delTAATAA	uc004cbk.3	-	25	7523_7528	c.7340_7345delTTATTA	c.(7339-7347)attattaag>aag	p.II2447del	SETX_uc004cbj.3_In_Frame_Del_p.II2095del|SETX_uc010mzt.3_In_Frame_Del_p.II2033del	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2447					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCACAGGTCTTAATAATGGCACCACG	0.447													---	21	---	---	24	---					
ZNF768	79724	broad.mit.edu	37	16	30537042	30537062	+	In_Frame_Del	DEL	GGGCTCCGGGGTTCATACCCG	-	-			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chr16:30537042_30537062delGGGCTCCGGGGTTCATACCCG	uc002dyk.4	-	1	575_595	c.399_419delCGGGTATGAACCCCGGAGCCC	c.(397-420)cccgggtatgaaccccggagccct>cct	p.133_140PGYEPRSP>P	ZNF768_uc010vex.2_In_Frame_Del_p.102_109PGYEPRSP>P|ZNF768_uc010vew.2_In_Frame_Del_p.102_109PGYEPRSP>P	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	133	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTCATAGCCAGGGCTCCGGGGTTCATACCCGGGGCTCCGAG	0.511													---	55	---	---	28	---					
FLNA	2316	broad.mit.edu	37	X	153590823	153590824	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D3-A5GO-06A-12D-A27K-08	TCGA-D3-A5GO-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c87561d-7f5c-435e-85b4-e514f68fdbda	af3bfb9a-a75c-4fff-8d38-0bcd1c174dc1	g.chrX:153590823_153590824insC	uc004fkk.2	-	16	2776_2777	c.2527_2528insG	c.(2527-2529)gctfs	p.A843fs	FLNA_uc010nuu.1_Frame_Shift_Ins_p.A843fs	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	843					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTAGCTGCCAGCCCCCCGGGGC	0.599													---	20	---	---	76	---