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
CLLU1	574028	broad.mit.edu	37	12	92818809	92818809	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:92818809G>A	uc001tcf.2	+	0	1075	c.353G>A	c.(352-354)cGc>cAc	p.R118H	CLLU1OS_uc001tcb.1_Intron|CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron	NM_001025233	NP_001020404			Homo sapiens chronic lymphocytic leukemia up-regulated 1 (CLLU1), mRNA.											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAACTGTTGCGCGTGTGTTGG	0.323000														15			11		0	0	3.86212e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067461	103067461	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103067461G>A	uc002tbx.3	+	10	1848	c.1364G>A	c.(1363-1365)aGa>aAa	p.R455K	IL18RAP_uc010fiz.3_Missense_Mutation_p.R313K	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	455	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.R455K(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGCTTGAAAGAGATGTGGCT	0.423000														32			25		0	0	5.49717e-05	0	0
PSME3	10197	broad.mit.edu	37	17	40986871	40986871	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr17:40986871A>G	uc002ibq.3	+	3	447	c.221A>G	c.(220-222)aAt>aGt	p.N74S	PSME3_uc002ibp.3_Missense_Mutation_p.N13S|PSME3_uc002ibr.3_Missense_Mutation_p.N74S|PSME3_uc002ibs.3_Missense_Mutation_p.N85S|PSME3_uc010whd.2_5'UTR	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	74					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTCTCACCAATAGCCATGAT	0.448000														53			35		0	0	0.000270559	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555186	44555187	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:44555186_44555187CG>AT	uc010xdb.2	-	0	1263_1264	c.1027_1028CG>AT	c.(1027-1029)cgg>ATg	p.R343M	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	343	Activation domain (By similarity).|Interaction with elongin BC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCTAGGCACCCGGAGGCACTGC	0.649000														577			12		0	0	6.4e-05	0	0
GNAS	2778	broad.mit.edu	37	20	57430051	57430051	+	Silent	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:57430051C>T	uc002xzw.3	+	0	2016	c.1731C>T	c.(1729-1731)agC>agT	p.S577S	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)			ATGACTCCAGCGGAGACGAGT	0.672000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				37			13		0	0	0.000151284	0	0
SRF	6722	broad.mit.edu	37	6	43139845	43139845	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:43139845A>C	uc003oui.3	+	0	926	c.451A>C	c.(451-453)Atc>Ctc	p.I151L	SRF_uc011dvf.2_5'Flank	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	151	MADS-box.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GATGGAGTTCATCGACAACAA	0.687000														37			5		0	0	1.23904e-05	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746165	77746165	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:77746165G>C	uc002snr.3	-	2	1245	c.830C>G	c.(829-831)cCc>cGc	p.P277R	LRRTM4_uc002snq.3_Missense_Mutation_p.P277R|LRRTM4_uc002sns.2_Missense_Mutation_p.P277R|LRRTM4_uc002snt.2_Missense_Mutation_p.P278R	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	277						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGTAAATTGGGGAGGCATTT	0.398000														16			13		0	0	0.00010058	0	0
FLII	2314	broad.mit.edu	37	17	18152152	18152153	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr17:18152152_18152153CC>AA	uc002gsr.1	-	16	2030_2031	c.1979_1980GG>TT	c.(1978-1980)cgg>cTT	p.R660L	FLII_uc002gsq.1_Missense_Mutation_p.R531L|FLII_uc010vxn.1_Missense_Mutation_p.R629L|FLII_uc010vxo.1_Missense_Mutation_p.R605L|FLII_uc002gss.1_Missense_Mutation_p.R659L	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	660	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCTGGGCCCCCCGCCATACGTA	0.589000														352			9		0	0	6.4e-05	0	0
C15orf42	90381	broad.mit.edu	37	15	90161426	90161427	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:90161426_90161427CC>AA	uc002boe.3	+	16	3004_3005	c.3004_3005CC>AA	c.(3004-3006)cct>AAt	p.P1002N	C15orf42_uc021sug.1_Missense_Mutation_p.P1001N	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1002					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)			TGAAGAGTCCCCTGAAAAAGGA	0.391000														420			11		0	0	6.4e-05	0	0
LUZP2	338645	broad.mit.edu	37	11	25004713	25004713	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:25004713C>A	uc001mqs.3	+	8	913	c.639C>A	c.(637-639)tgC>tgA	p.C213*	LUZP2_uc009yif.3_Nonsense_Mutation_p.C127*|LUZP2_uc009yig.3_Nonsense_Mutation_p.C171*	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	213						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGCAGCTCTGCTTGACATCTG	0.413000														13			45		4.37618e-36	2.17824e-34	0.000147903	1	0
SSPO	23145	broad.mit.edu	37	7	149519711	149519711	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr7:149519711G>A	uc010lpk.3	+	90	13192	c.13192G>A	c.(13192-13194)Gcc>Acc	p.A4398T	SSPO_uc010lpm.1_Intron|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4401	TSP type-1 22.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGGGCAGGCGCCCCCTGCAC	0.692000														4			8		0	0	2.17888e-05	0	0
GABRG1	2565	broad.mit.edu	37	4	46067413	46067413	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:46067413A>C	uc003gxb.3	-	3	662	c.510T>G	c.(508-510)atT>atG	p.I170M		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	170					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R169*(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATCATTCCAAATTCGAAGCA	0.323000														90			58		0	0	0.000147903	0	0
ZNF630	57232	broad.mit.edu	37	X	47919835	47919835	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:47919835A>T	uc004div.4	-	3	484	c.232T>A	c.(232-234)Tac>Aac	p.Y78N	ZNF630_uc010nhz.1_Non-coding_Transcript|ZNF630_uc022bvr.1_Missense_Mutation_p.Y64N|ZNF630_uc022bvs.1_Missense_Mutation_p.Y78N	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTACCTGGGTAGATCCACCTT	0.408000														53			41		0	0	0.000147903	0	0
DDAH2	23564	broad.mit.edu	37	6	31696769	31696770	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:31696769_31696770CC>AA	uc003nwp.3	-	0	800_801	c.169_170GG>TT	c.(169-171)ggg>TTg	p.G57L	DDAH2_uc003nwq.3_Missense_Mutation_p.G57L	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	57					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CAGCTGTAGCCCCAGTCGTTGC	0.653000														349			9		0	0	6.4e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068417	103068417	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068417C>T	uc002tbx.3	+	11	2060	c.1576C>T	c.(1576-1578)Ctc>Ttc	p.L526F	IL18RAP_uc010fiz.3_Missense_Mutation_p.L384F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	526	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TCTACCTCATCTCGTGAAAAA	0.428000														82			45		0	0	0.000147903	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068314	103068314	+	Silent	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068314C>T	uc002tbx.3	+	11	1957	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	IL18RAP_uc010fiz.3_Silent_p.I349I	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	491	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.I491I(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GACCCAGTATCTTTGAACTAC	0.383000														48			47		0	0	0.000147903	0	0
TAF1A	9015	broad.mit.edu	37	1	222742993	222742994	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:222742993_222742994CC>AA	uc009xdz.2	-	6	961_962	c.752_753GG>TT	c.(751-753)ggg>gTT	p.G251V	TAF1A_uc001hni.2_Missense_Mutation_p.G137V|TAF1A_uc001hnj.3_Missense_Mutation_p.G251V|TAF1A_uc010pur.2_Missense_Mutation_p.G251V	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	251					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.G251E(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CATCTCGATCCCCATAGAATTC	0.332000														721			12		0	0	6.4e-05	0	0
ESRP1	54845	broad.mit.edu	37	8	95683843	95683844	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr8:95683843_95683844GG>TT	uc003ygq.4	+	10	1579_1580	c.1396_1397GG>TT	c.(1396-1398)ggg>TTg	p.G466L	ESRP1_uc003ygr.4_Missense_Mutation_p.G466L|ESRP1_uc003ygs.4_Missense_Mutation_p.G466L|ESRP1_uc003ygt.4_Missense_Mutation_p.G466L|ESRP1_uc003ygu.4_Missense_Mutation_p.G466L|ESRP1_uc003ygv.3_Missense_Mutation_p.G306L|ESRP1_uc003ygw.3_Missense_Mutation_p.G306L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	466	RRM 3.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGATTTCCTGGGGGAGTTCGCC	0.441000														486			11		0	0	6.4e-05	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														45			7		0	0	0.000157383	0	0
DISP1	84976	broad.mit.edu	37	1	223176933	223176934	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:223176933_223176934GG>TT	uc001hnu.2	+	9	2520_2521	c.2194_2195GG>TT	c.(2194-2196)ggg>TTg	p.G732L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	732					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AACTGTAGGTGGGGCCTACATT	0.426000														884			14		0	0	6.4e-05	0	0
KCNH8	131096	broad.mit.edu	37	3	19554767	19554767	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:19554767A>T	uc003cbk.1	+	12	2580	c.2385A>T	c.(2383-2385)aaA>aaT	p.K795N	KCNH8_uc010hex.1_Missense_Mutation_p.K256N	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	795						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAACTTGAAATTGCAACTTT	0.433000														55			42		0	0	7.51294e-05	0	0
SPAST	6683	broad.mit.edu	37	2	32368403	32368403	+	Splice_Site	SNP	A	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:32368403A>G	uc002roc.3	+	14	1758	c.1537_splice	c.e14-2	p.T513_splice	SPAST_uc002rod.3_Splice_Site_p.T481_splice	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	513	Sufficient for microtubule severing.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AATATTTTTCAGACAAGACTA	0.328000														20			12		0	0	0.00010058	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36361338	36361338	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:36361338C>G	uc021wdj.1	+	1	179	c.88C>G	c.(88-90)Cgg>Ggg	p.R30G	CTNNBL1_uc021wdi.1_Missense_Mutation_p.R3G	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	30					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAAGATGCGTCGGAAACAAAC	0.478000														56			12		0	0	0.000151284	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160734989	160734989	+	Silent	SNP	G	A	A	rs34313381		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:160734989G>A	uc002ubb.4	-	10	1694	c.1620C>T	c.(1618-1620)taC>taT	p.Y540Y	LY75-CD302_uc010fos.3_Silent_p.Y540Y|LY75-CD302_uc002ubc.4_Silent_p.Y540Y|LY75-CD302_uc010fot.2_Silent_p.Y540Y	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	540	C-type lectin 3.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										AATCATTTAGGTATTCTTGCT	0.353000														35			25		0	0	9.22233e-05	0	0
IL4I1	259307	broad.mit.edu	37	19	50399210	50399210	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:50399210C>A	uc002pqv.2	-	5	970	c.141G>T	c.(139-141)caG>caT	p.Q47H	IL4I1_uc002pqt.1_Missense_Mutation_p.Q38H|IL4I1_uc021uxy.1_Missense_Mutation_p.Q60H|IL4I1_uc002pqu.2_Missense_Mutation_p.Q60H|IL4I1_uc010eno.2_Missense_Mutation_p.Q46H	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	38						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGTCAGGATCCTGCATGCATT	0.632000														39			32		5.60225e-13	2.66831e-11	3.70037e-05	1	0
PRSS48	345062	broad.mit.edu	37	4	152204317	152204317	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:152204317A>G	uc011cif.2	+	3	530	c.530A>G	c.(529-531)gAc>gGc	p.D177G	PRSS48_uc011cig.2_Missense_Mutation_p.D34G	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	177	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CCCATTATTGACCGCCAGGCT	0.463000														99			95		0	0	0.000147903	0	0
UMODL1	89766	broad.mit.edu	37	21	43508437	43508437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr21:43508437G>A	uc002zag.1	+	4	637	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	UMODL1_uc002zad.1_Missense_Mutation_p.V141I|UMODL1_uc002zae.1_Missense_Mutation_p.V141I|UMODL1_uc002zaf.1_Missense_Mutation_p.V213I|UMODL1_uc010gow.1_Missense_Mutation_p.V5I|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V5I	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	213						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCCTCCACCGTCCACCACCT	0.637000														33			34		0	0	0.000132358	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786315	128786315	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:128786315C>G	uc001qet.3	+	2	1263	c.949C>G	c.(949-951)Caa>Gaa	p.Q317E	KCNJ5_uc009zck.3_Missense_Mutation_p.Q317E|KCNJ5_uc001qew.3_Missense_Mutation_p.Q317E	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	317					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CATGACCTGCCAAGCCCGGAG	0.502000														2			31		0	0	4.66903e-05	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88876161	88876162	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:88876161_88876162CG>AT	uc002stc.4	-	11	2248_2249	c.1946_1947CG>AT	c.(1945-1947)ccg>cAT	p.P649H		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	649	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TAACAATGCCCGGGTGTTCAAG	0.411000														622			10		0	0	6.4e-05	0	0
HLA-J	3137	broad.mit.edu	37	6	29977327	29977327	+	Silent	SNP	T	C	C	rs143365191	by1000genomes	TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:29977327T>C	uc021yty.1	+	4	373	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Silent_p.L116L					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GACAGCTGCCTTGTGTGGGAC	0.438000														41			3		0	0	6.4e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068482	103068482	+	Silent	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068482C>T	uc002tbx.3	+	11	2125	c.1641C>T	c.(1639-1641)ccC>ccT	p.P547P	IL18RAP_uc010fiz.3_Silent_p.P405P	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	547	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGTTCCTCCCAATTCTAGGT	0.458000														113			65		0	0	0.000147903	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119768707	119768707	+	Silent	SNP	C	G	G	rs139031897		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:119768707C>G	uc001ldj.2	-	4	1781	c.1341G>C	c.(1339-1341)ggG>ggC	p.G447G	RAB11FIP2_uc009xyz.2_Silent_p.G467G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	447	FIP-RBD.				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACTACGATACCCTGCAGTGG	0.453000														14			49		0	0	0.000147903	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068392	103068392	+	Silent	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068392C>T	uc002tbx.3	+	11	2035	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	IL18RAP_uc010fiz.3_Silent_p.F375F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	517	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TCTGTTACTTCCAAGAGCCAG	0.413000														51			31		0	0	0.000228196	0	0
TGM3	7053	broad.mit.edu	37	20	2298022	2298023	+	Missense_Mutation	DNP	CG	AT	AT	rs145397721	by1000genomes	TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:2298022_2298023CG>AT	uc002wfx.4	+	6	971_972	c.874_875CG>AT	c.(874-876)cgg>ATg	p.R292M		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	292					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GATTCCTTCCCGGGTGATCACC	0.564000														186			7		0	0	6.4e-05	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:95522786T>C	uc010fhp.3	-	0		c.35A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.K44K(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CGGCGTCGCCTTTGACAGCTG	0.687000														48			3		0	0	1.23904e-05	0	0
CPS1	1373	broad.mit.edu	37	2	211460236	211460236	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:211460236C>T	uc010fur.3	+	13	1389	c.1307C>T	c.(1306-1308)tCa>tTa	p.S436L	CPS1_uc002vee.4_Missense_Mutation_p.S430L|CPS1_uc010fus.3_5'UTR	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	430					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			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)		ATTCTAGGATCAGGAGGTCTG	0.378000														114			68		0	0	0.000147903	0	0
IGSF10	285313	broad.mit.edu	37	3	151163993	151163993	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:151163993A>G	uc011bod.2	-	3	3776	c.3776T>C	c.(3775-3777)gTg>gCg	p.V1259A		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1259					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATTTGCATCACACTTGTTGA	0.438000														48			4		0	0	0.00024832	0	0
PI4KB	5298	broad.mit.edu	37	1	151282708	151282708	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:151282708A>T	uc001exr.3	-	3	1608	c.969T>A	c.(967-969)agT>agA	p.S323R	PI4KB_uc001exs.3_Intron|PI4KB_uc001exu.3_Intron|PI4KB_uc010pcw.2_Intron|PI4KB_uc001ext.3_Missense_Mutation_p.S311R	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	311					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATTATCAATACTCTCGGTGC	0.587000														12			7		0	0	0.000157383	0	0
LGR5	8549	broad.mit.edu	37	12	71976316	71976317	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:71976316_71976317CC>AA	uc001swl.3	+	16	1681_1682	c.1633_1634CC>AA	c.(1633-1635)cca>AAa	p.P545K	LGR5_uc001swm.3_Missense_Mutation_p.P521K|LGR5_uc021rar.1_Missense_Mutation_p.P473K|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	545						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCACCTTCCCCAGGTGAGAAA	0.450000														348			10		0	0	6.4e-05	0	0
CDH23	64072	broad.mit.edu	37	10	73375261	73375261	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:73375261G>A	uc001jrx.4	+	10	1223	c.833_splice	c.e10-1	p.G278_splice	CDH23_uc001jrw.4_Splice_Site_p.G278_splice|CDH23_uc001jry.3_Splice_Site_p.G278_splice|CDH23_uc001jrz.3_Splice_Site_p.G278_splice|CDH23_uc021psl.1_Splice_Site_p.G278_splice|CDH23_uc009xql.3_Splice_Site_p.G278_splice	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	278	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTCTTGCAGGGAATACCAAC	0.617000														1			9		0	0	3.86212e-05	0	0
EXD1	161829	broad.mit.edu	37	15	41476511	41476512	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:41476511_41476512TG>AT	uc010ucv.2	-	11	1608_1609	c.1336_1337CA>AT	c.(1336-1338)caa>ATa	p.Q446I	EXD1_uc001znj.3_Missense_Mutation_p.Q186I|EXD1_uc001znk.3_Missense_Mutation_p.Q388I	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	388					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATTTGTAGCTTGTTTATTCAAA	0.386000														6			40		0	0	6.4e-05	0	0
FAM40B	57464	broad.mit.edu	37	7	129091519	129091519	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr7:129091519G>A	uc011koy.2	+	3	380	c.340G>A	c.(340-342)Gac>Aac	p.D114N	FAM40B_uc003vow.3_Missense_Mutation_p.D114N	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	114										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGACTCTTGGACCGGCTAGA	0.552000														26			38		0	0	6.26518e-05	0	0
CBLN2	147381	broad.mit.edu	37	18	70209065	70209065	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:70209065G>T	uc002lku.2	-	1	566	c.331C>A	c.(331-333)Cgc>Agc	p.R111S	CBLN2_uc002lkv.2_Missense_Mutation_p.R111S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	111	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTCATGGTGCGGTTGCTCATC	0.711000														2			14		1.67942e-08	7.86337e-07	7.07596e-05	1	0
NARG2	79664	broad.mit.edu	37	15	60741574	60741574	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:60741574G>C	uc002agp.3	-	9	1827	c.1592C>G	c.(1591-1593)aCt>aGt	p.T531S	NARG2_uc002ago.3_Missense_Mutation_p.T394S|NARG2_uc002agq.4_Missense_Mutation_p.T199S	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	531						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TATATCTATAGTCATATCATT	0.333000														57			36		0	0	8.91981e-05	0	0
DST	667	broad.mit.edu	37	6	56496732	56496732	+	Silent	SNP	G	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:56496732G>C	uc003pcy.4	-	14	2409	c.2301C>G	c.(2299-2301)ccC>ccG	p.P767P	DST_uc021zay.1_Silent_p.P1133P|DST_uc021zax.1_Silent_p.P767P|DST_uc003pdc.4_Silent_p.P767P|DST_uc003pdd.4_Silent_p.P767P	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1093					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTTTCCAGGGGAGTTCGAA	0.383000														110			31		0	0	7.24521e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068368	103068368	+	Silent	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068368C>T	uc002tbx.3	+	11	2011	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	IL18RAP_uc010fiz.3_Silent_p.L367L	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	509	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CACTGAAACTCATTTTAATTA	0.413000														44			29		0	0	8.91981e-05	0	0
TRPC6	7225	broad.mit.edu	37	11	101324406	101324406	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:101324406A>T	uc001pgk.4	-	11	3044	c.2619T>A	c.(2617-2619)gaT>gaA	p.D873E	TRPC6_uc009ywy.3_Missense_Mutation_p.D757E|TRPC6_uc009ywz.1_Missense_Mutation_p.D818E	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	873					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)		CACTCTCCTTATCTATCTGGG	0.448000														8			19		0	0	0.000229342	0	0
DDAH2	23564	broad.mit.edu	37	6	31695342	31695343	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:31695342_31695343CC>AA	uc003nwp.3	-	4	1349_1350	c.718_719GG>TT	c.(718-720)ggg>TTg	p.G240L	DDAH2_uc003nwq.3_Missense_Mutation_p.G240L	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	240					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GGGCAGATCCCCACCTCCACGG	0.574000														426			9		0	0	6.4e-05	0	0
GPR139	124274	broad.mit.edu	37	16	20043116	20043116	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr16:20043116T>A	uc002dgu.1	-	1	1165	c.1003A>T	c.(1003-1005)Atc>Ttc	p.I335F	GPR139_uc010vaw.1_Missense_Mutation_p.I242F	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	335						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGCATCTTGATGCAGTGTGAG	0.443000														16			84		0	0	0.000147903	0	0
KRT35	3886	broad.mit.edu	37	17	39634648	39634648	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr17:39634648C>T	uc002hws.3	-	4	1007	c.964G>A	c.(964-966)Gcc>Acc	p.A322T		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	322	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ATCTCCAGGGCGTTGACCGTG	0.602000														25			19		0	0	7.07596e-05	0	0
ATG2A	23130	broad.mit.edu	37	11	64669847	64669847	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:64669847A>C	uc001obx.3	-	27	3904	c.3789T>G	c.(3787-3789)agT>agG	p.S1263R	ATG2A_uc001obw.3_Missense_Mutation_p.S28R	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1263							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						GAGAGGCAGGACTCTCCGAGA	0.701000														4			3		0	0	0.00024832	0	0
BRD9	65980	broad.mit.edu	37	5	884140	884140	+	Silent	SNP	A	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:884140A>G	uc003jbq.3	-	7	1046	c.879T>C	c.(877-879)agT>agC	p.S293S	BRD9_uc003jbl.3_Silent_p.S177S|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Silent_p.S240S|BRD9_uc003jbo.3_Silent_p.S197S|BRD9_uc003jbp.3_5'Flank|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	293							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)			CCTCTGCGGTACTGTCCGTCA	0.627000														31			9		0	0	0.000151284	0	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	Silent	SNP	T	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:155252868T>A	uc004fnw.1	+	5	1571	c.912T>A	c.(910-912)ccT>ccA	p.P304P	WASH6P_uc022cip.1_Silent_p.P90P	NM_182905	NP_878908			Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.									p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000														9			6		0	0	8.12818e-05	0	0
CNGA2	1260	broad.mit.edu	37	X	150911807	150911807	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:150911807C>G	uc004fey.1	+	6	1056	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	278					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CATCAGCAACCTTGTCCTCTA	0.512000														88			19		0	0	0.000132079	0	0
SLC5A4	6527	broad.mit.edu	37	22	32635079	32635079	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr22:32635079T>C	uc003ami.3	-	6	480	c.478_splice	c.e6-1	p.A160_splice		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	160					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TATGTCTGCCTAAAAAGGGAA	0.463000														3			19		0	0	9.7654e-05	0	0
GABRG1	2565	broad.mit.edu	37	4	46067380	46067380	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:46067380C>T	uc003gxb.3	-	4	694	c.542_splice	c.e4+1	p.R181_splice		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	181					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ACCAATATTACCTTAGAGTAT	0.303000														73			44		0	0	0.000147903	0	0
C10orf71	118461	broad.mit.edu	37	10	50530628	50530628	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:50530628G>A	uc021pqb.1	+	0	38	c.38G>A	c.(37-39)aGc>aAc	p.S13N	C10orf71_uc021pqa.1_Missense_Mutation_p.S12N|C10orf71_uc021pqc.1_Missense_Mutation_p.S13N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	13										endometrium(1)	1						GACGCGTTCAGCGACTCCTCC	0.542000														3			7		0	0	2.17888e-05	0	0
PRPH2	5961	broad.mit.edu	37	6	42689566	42689566	+	Silent	SNP	G	A	A	rs143096101		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:42689566G>A	uc003osk.3	-	0	793	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	169			Missing (in some patients with macular dystrophy).		cell adhesion|visual perception	integral to membrane		p.N169N(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCCGAAAACCGTTGTTGCCGC	0.512000														140			64		0	0	0.000147903	0	0
NRF1	4899	broad.mit.edu	37	7	129348964	129348965	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr7:129348964_129348965GG>TT	uc003vpa.3	+	5	776_777	c.656_657GG>TT	c.(655-657)cgg>cTT	p.R219L	NRF1_uc003voz.3_Missense_Mutation_p.R219L|NRF1_uc011kpa.2_Missense_Mutation_p.R58L|NRF1_uc003vpb.3_Missense_Mutation_p.R219L	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	219					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TCTACAGGTCGGGGAAAACCAG	0.525000														333			8		0	0	6.4e-05	0	0
DCC	1630	broad.mit.edu	37	18	50918108	50918108	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:50918108C>A	uc002lfe.2	+	16	3155	c.2539C>A	c.(2539-2541)Cca>Aca	p.P847T	DCC_uc010xdr.1_Missense_Mutation_p.P675T|DCC_uc010dpf.2_Missense_Mutation_p.P482T	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	847	Fibronectin type-III 5.				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)		CATGCTCCCACCAGTAGGTGT	0.522000														134			22		1.55469e-16	7.46929e-15	5.49717e-05	1	0
SYNGAP1	8831	broad.mit.edu	37	6	33391260	33391261	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:33391260_33391261GG>TT	uc011dri.2	+	1	269_270	c.74_75GG>TT	c.(73-75)cgg>cTT	p.R25L	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R10L|SYNGAP1_uc010juy.3_Missense_Mutation_p.R10L	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						CCAGATGTACGGGGACCCTCTA	0.520000														327			8		0	0	6.4e-05	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	88330	88330	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrGL000219.1:88330T>C	uc022brb.1	-	2	314	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		AAAAAGACCATTGTCGAGTGG	0.408000														91			7		0	0	0.000219431	0	0
DST	667	broad.mit.edu	37	6	56504763	56504763	+	Silent	SNP	T	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:56504763T>C	uc003pcy.4	-	4	1080	c.972A>G	c.(970-972)gaA>gaG	p.E324E	DST_uc021zay.1_Silent_p.E690E|DST_uc011dxl.1_Silent_p.E679E|DST_uc021zax.1_Silent_p.E324E|DST_uc003pdc.4_Silent_p.E324E|DST_uc003pdd.4_Silent_p.E324E|DST_uc003pde.2_Silent_p.E766E	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	650					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGATTCAAATTCTTCAATAG	0.328000														94			37		0	0	0.000159656	0	0
RAG1	5896	broad.mit.edu	37	11	36596185	36596185	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:36596185C>T	uc021qgb.1	+	0	1331	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.A444V	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	444			A -> V (in OS/T(-)B(-)NK(+) SCID; atypical).		T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.A444V(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCTCTGAGGGCGAGGAATGAG	0.562000									Familial Hemophagocytic Lymphohistiocytosis					10			31		0	0	4.66903e-05	0	0
BC011998	0	broad.mit.edu	37	5	164028160	164028160	+	RNA	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:164028160C>T	uc003lzn.3	+	2		c.338C>T								Homo sapiens, clone IMAGE:4479080, mRNA, partial cds.																		CCGTTGTAGACGCCCACCCTG	0.592000														7			5		0	0	8.12818e-05	0	0
SIDT1	54847	broad.mit.edu	37	3	113302286	113302286	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:113302286G>A	uc021xcn.1	+	6	1429	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.V260M|SIDT1_uc011big.2_Missense_Mutation_p.V13M	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	260						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GCAGTTCTTCGTGGTATTTGT	0.453000														7			21		0	0	7.16444e-05	0	0
LONP1	9361	broad.mit.edu	37	19	5714222	5714222	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:5714222C>A	uc002mcx.3	-	1	523	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	LONP1_uc002mcy.3_Missense_Mutation_p.V100F|LONP1_uc010duh.3_5'UTR|LONP1_uc010dui.3_Missense_Mutation_p.V164F|LONP1_uc002mcz.3_5'UTR	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	164	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGACGCCGACATAAGGCTGG	0.458000														70			34		4.65686e-17	2.25694e-15	0.000109025	1	0
CYP4F11	57834	broad.mit.edu	37	19	16045093	16045093	+	Silent	SNP	A	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:16045093A>G	uc002nbu.2	-	1	162	c.126T>C	c.(124-126)taT>taC	p.Y42Y	CYP4F11_uc010eab.1_Silent_p.Y42Y|CYP4F11_uc002nbt.2_Silent_p.Y42Y	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	42					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGCAGTTGTCATAGAAGGTGT	0.642000														33			14		0	0	3.45872e-05	0	0
AP3D1	8943	broad.mit.edu	37	19	2109958	2109958	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:2109958C>T	uc002lva.3	-	29	3488	c.3265_splice	c.e29-1	p.N1089_splice	AP3D1_uc010dsv.3_Splice_Site_p.N117_splice|AP3D1_uc002luy.3_Splice_Site_p.N986_splice|AP3D1_uc002luz.3_Splice_Site_p.N1027_splice	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	1027					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTCGTCATTCTGCGGTGGAG	0.642000														30			24		0	0	5.49717e-05	0	0
INSR	3643	broad.mit.edu	37	19	7267899	7267900	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:7267899_7267900CG>AT	uc002mgd.1	-	1	217_218	c.108_109CG>AT	c.(106-111)cccggc>ccATgc	p.G37C	INSR_uc002mge.1_Missense_Mutation_p.G37C|INSR_uc002mgf.3_Missense_Mutation_p.G37C	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	37					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATATCCATGCCGGGACACACTA	0.510000														374			9		0	0	6.4e-05	0	0
C5orf45	51149	broad.mit.edu	37	5	179264416	179264417	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:179264416_179264417CC>AA	uc003mla.3	-	6	1050_1051	c.1006_1007GG>TT	c.(1006-1008)ggg>TTg	p.G336L	SQSTM1_uc011dgr.2_3'UTR|SQSTM1_uc011dgs.2_3'UTR|SQSTM1_uc003mkw.4_3'UTR|SQSTM1_uc003mkx.3_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.3_Missense_Mutation_p.G281L|C5orf45_uc003mlb.3_Missense_Mutation_p.G202L|C5orf45_uc021yjh.1_Non-coding_Transcript	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	336										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAAGTCTTCCCCAGTTATAAAG	0.525000														363			9		0	0	6.4e-05	0	0
OR11A1	26531	broad.mit.edu	37	6	29394894	29394894	+	Silent	SNP	A	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:29394894A>T	uc003nmg.3	-	0	616	c.525T>A	c.(523-525)atT>atA	p.I175I		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H174Y(2)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						AAAACTGGTCAATGTGGTTGG	0.547000														16			12		0	0	0.000151284	0	0
MMP17	4326	broad.mit.edu	37	12	132329745	132329745	+	Splice_Site	SNP	G	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:132329745G>C	uc001ujc.1	+	7	1150	c.1051_splice	c.e7+1	p.G351_splice	MMP17_uc001ujd.1_Splice_Site_p.G267_splice	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	351	Hemopexin-like 1.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTTCTTCAAAGGTACCTCCAG	0.652000														20			15		0	0	7.07596e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52192352	52192352	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr20:52192352A>T	uc002xwq.4	-	2	3293	c.2951T>A	c.(2950-2952)cTg>cAg	p.L984Q	ZNF217_uc010gij.1_Missense_Mutation_p.L976Q	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	984					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	p.V983A(1)		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)			CTGAACAGTCAGCACATTTGG	0.552000														20			60		0	0	0.000147903	0	0
AR	367	broad.mit.edu	37	X	66765795	66765795	+	Silent	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:66765795C>T	uc004dwu.2	+	0	1922	c.807C>T	c.(805-807)taC>taT	p.Y269Y	AR_uc011mpd.2_Silent_p.Y269Y|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.Y269Y|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Silent_p.Y269Y	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	267	Modulating.		P -> S (in prostate cancer).		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	p.Y269Y(2)|p.Y79Y(1)		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)	ATTGCATGTACGCCCCACTTT	0.597000									Androgen Insensitivity Syndrome					33			18		0	0	9.7654e-05	0	0
NUP62CL	54830	broad.mit.edu	37	X	106397458	106397458	+	Silent	SNP	C	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:106397458C>G	uc004ena.3	-	4	472	c.213G>C	c.(211-213)gtG>gtC	p.V71V	NUP62CL_uc004enb.3_Intron	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	71					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						CATATGTCATCACAGGAGTTG	0.388000														63			19		0	0	0.000175454	0	0
PTPDC1	138639	broad.mit.edu	37	9	96850154	96850154	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr9:96850154A>T	uc010mrj.2	+	2	560	c.458A>T	c.(457-459)gAg>gTg	p.E153V	PTPDC1_uc004auf.2_Missense_Mutation_p.E99V|PTPDC1_uc004aug.2_Missense_Mutation_p.E99V|PTPDC1_uc004auh.2_Missense_Mutation_p.E151V|PTPDC1_uc010mri.2_Missense_Mutation_p.E151V	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	99							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCATCCTCTGAGCTCCTGGAG	0.468000														81			56		0	0	0.000147903	0	0
ANKAR	150709	broad.mit.edu	37	2	190554339	190554340	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:190554339_190554340CC>AA	uc002uqw.2	+	2	776_777	c.688_689CC>AA	c.(688-690)cct>AAt	p.P230N	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqv.1_Missense_Mutation_p.P230N	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	230						integral to membrane	binding	p.P230H(1)|p.K230K(1)|p.P159H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCCCAACAGCCCTGAAGAAACA	0.307000														187			7		0	0	6.4e-05	0	0
REST	5978	broad.mit.edu	37	4	57797327	57797328	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:57797327_57797328CC>AA	uc003hch.3	+	3	2650_2651	c.2303_2304CC>AA	c.(2302-2304)ccc>cAA	p.P768Q	REST_uc003hci.3_Missense_Mutation_p.P768Q|REST_uc010ihf.3_Missense_Mutation_p.P442Q	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	768	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding	p.M753_P768delMEVVQKEPVKIELSPP(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGTCTCCTCCCATAGAGGTGG	0.574000														768			13		0	0	6.4e-05	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468710	35468711	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr21:35468710_35468711CG>AT	uc021wir.1	+	0	1213_1214	c.1213_1214CG>AT	c.(1213-1215)cgg>ATg	p.R405M	SLC5A3_uc002yto.3_Missense_Mutation_p.R405M|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	405						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CGCAAGCTCCCGGGAGTTAATG	0.475000														880			14		0	0	6.4e-05	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38810862	38810863	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr8:38810862_38810863CC>AA	uc003xmi.4	+	8	984_985	c.750_751CC>AA	c.(748-753)acccat>acAAat	p.H251N	PLEKHA2_uc011lce.2_Missense_Mutation_p.H201N	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	251	PH 2.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding	p.H251N(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TTCTGAAGACCCATGAATGTCT	0.441000														197			8		0	0	6.4e-05	0	0
FMO1	2326	broad.mit.edu	37	1	171254418	171254418	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:171254418C>G	uc009wvz.3	+	8	1470	c.1334C>G	c.(1333-1335)gCa>gGa	p.A445G	FMO1_uc010pme.2_Missense_Mutation_p.A382G|FMO1_uc001ghl.3_Missense_Mutation_p.A445G|FMO1_uc001ghm.3_Missense_Mutation_p.A445G	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	445					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATATCAATGCAAAACCCAAC	0.458000														99			6		0	0	0.000157383	0	0
AGRN	375790	broad.mit.edu	37	1	982226	982226	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:982226G>A	uc001ack.2	+	18	3327	c.3277G>A	c.(3277-3279)Gtg>Atg	p.V1093M		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1093	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGCAGCAGCGTGGCCACCCC	0.687000														1			4		0	0	1.23904e-05	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000														38			9		0	0	3.86212e-05	0	0
WFS1	7466	broad.mit.edu	37	4	6296913	6296913	+	Silent	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:6296913G>A	uc003giy.3	+	6	1024	c.858G>A	c.(856-858)ctG>ctA	p.L286L	WFS1_uc003gix.3_Silent_p.L286L|WFS1_uc003giz.3_Silent_p.L104L	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	286					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CACTGCGTCTGAAGGTGAGTG	0.647000														280			83		0	0	0.000147903	0	0
C12orf50	160419	broad.mit.edu	37	12	88379686	88379686	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:88379686G>A	uc001tam.1	-	10	1235	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	C12orf50_uc001tan.3_Missense_Mutation_p.T371M	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	356								p.T356A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GGACCCATGCGTGGGCCTGCT	0.478000														85			65		0	0	0.000147903	0	0
CCDC51	79714	broad.mit.edu	37	3	48476289	48476289	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr3:48476289C>T	uc003ctc.3	-	1	282	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CCDC51_uc021wxn.1_5'Flank|CCDC51_uc003ctd.3_5'UTR	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA.	84						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCATATCTGTCCCACCAAGTC	0.637000														88			13		0	0	2.31682e-05	0	0
CORIN	10699	broad.mit.edu	37	4	47746536	47746537	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr4:47746536_47746537CC>AA	uc003gxm.3	-	4	774_775	c.681_682GG>TT	c.(679-684)ctgggg>ctTTgg	p.G228W	CORIN_uc011bzf.2_Missense_Mutation_p.G89W|CORIN_uc011bzg.2_Missense_Mutation_p.G161W|CORIN_uc011bzh.1_Missense_Mutation_p.G228W|CORIN_uc011bzi.1_Missense_Mutation_p.G228W|CORIN_uc003gxn.4_Missense_Mutation_p.G228W	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	228	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTCACCATCCCCAGGACTGATT	0.450000														383			11		0	0	6.4e-05	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612392	54612392	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr7:54612392G>C	uc022adk.1	+	1	562	c.157G>C	c.(157-159)Ggc>Cgc	p.G53R	VSTM2A_uc010kzf.3_Missense_Mutation_p.G53R	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	53	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CTTCCAGAGCGGCTCCGCCTC	0.647000														38			5		0	0	3.59834e-05	0	0
LRP6	4040	broad.mit.edu	37	12	12291459	12291460	+	Missense_Mutation	DNP	CG	AT	AT	rs140962861		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:12291459_12291460CG>AT	uc001rah.4	-	15	3548_3549	c.3406_3407CG>AT	c.(3406-3408)cgg>ATg	p.R1136M	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1136M	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1136	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.R1136R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TAATACTATCCGGTTAGCACCT	0.366000														391			7		0	0	6.4e-05	0	0
GGN	199720	broad.mit.edu	37	19	38877378	38877378	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:38877378G>A	uc002oij.1	-	2	659	c.524C>T	c.(523-525)cCa>cTa	p.P175L	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P92L	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	175	Interaction with GGNBP1 (By similarity).|Pro-rich.			PP -> SR (in Ref. 1; AAP31500).	cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGTAATGGTGGTGGCGGCTT	0.677000														15			8		0	0	3.86212e-05	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														7			3		0	0	6.4e-05	0	0
FUT9	10690	broad.mit.edu	37	6	96651149	96651149	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:96651149C>A	uc003pop.4	+	2	459	c.118C>A	c.(118-120)Cca>Aca	p.P40T	FUT9_uc021zcw.1_Missense_Mutation_p.P40T	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	40					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)		GATCTTCAGTCCAATGGAATC	0.398000														10			32		2.2171e-23	1.0937e-21	3.70037e-05	1	0
MAP3K15	389840	broad.mit.edu	37	X	19389081	19389081	+	Silent	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:19389081G>A	uc022btq.1	-	23	3396	c.3396C>T	c.(3394-3396)atC>atT	p.I1132I	MAP3K15_uc004czj.2_Silent_p.I567I|MAP3K15_uc004czk.2_Silent_p.I607I|MAP3K15_uc004czi.2_Silent_p.I66I	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1132							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCTCACCTGGGATGAGAATGG	0.478000														48			37		0	0	0.000106405	0	0
NEURL	9148	broad.mit.edu	37	10	105331479	105331479	+	Silent	SNP	C	T	T	rs142246980		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:105331479C>T	uc001kxh.3	+	2	959	c.549C>T	c.(547-549)aaC>aaT	p.N183N	NEURL_uc021pxn.1_Silent_p.N166N	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	183	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACCGCATCAACGACTCGGCTG	0.637000														5			24		0	0	0.000184323	0	0
TNNI1	7135	broad.mit.edu	37	1	201398341	201398341	+	RNA	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr1:201398341G>A	uc001gwo.1	-	1		c.230C>T						P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.						muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						GCAAGGGGGCGACTTCGGTTG	0.493000														26			7		0	0	2.17888e-05	0	0
HABP4	22927	broad.mit.edu	37	9	99233343	99233343	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr9:99233343C>A	uc010msg.3	+	4	942	c.794C>A	c.(793-795)tCc>tAc	p.S265Y	HABP4_uc010msh.3_Intron	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	Homo sapiens hyaluronan binding protein 4 (HABP4), mRNA.	265					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GTGGAGGAGTCCCAGGGCACC	0.463000														54			34		9.65963e-10	4.56149e-08	8.91981e-05	1	0
ROCK1P1	727758	broad.mit.edu	37	18	116842	116843	+	Splice_Site	DNP	TA	CT	CT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr18:116842_116843TA>CT	uc002kke.3	+	2		c.390_splice	c.e2-1							Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																		TTCATTTTAGTAAACTGTTTCA	0.297000														7			17		0	0	6.4e-05	0	0
PRRC2A	7916	broad.mit.edu	37	6	31593322	31593323	+	Silent	DNP	CC	AA	AA	rs142466078		TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:31593322_31593323CC>AA	uc003nvb.4	+	6	942_943	c.693_694CC>AA	c.(691-696)ccccgg>ccAAgg	p.231_232PR>PR	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.231_232PR>PR|PRRC2A_uc003nve.3_3'UTR	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	231	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GTCATGATCCCCGGGGTGGGCT	0.564000														60			5		0	0	6.4e-05	0	0
DDX53	168400	broad.mit.edu	37	X	23018497	23018497	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chrX:23018497C>G	uc004daj.3	+	0	420	c.323C>G	c.(322-324)gCt>gGt	p.A108G		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	108	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.A107A(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GCCAAAGCGGCTATAGAAACA	0.383000														113			18		0	0	5.01169e-05	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068354	103068354	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr2:103068354C>T	uc002tbx.3	+	11	1997	c.1513C>T	c.(1513-1515)Caa>Taa	p.Q505*	IL18RAP_uc010fiz.3_Nonsense_Mutation_p.Q363*	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	505	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTTGGATGATCAAACACTGAA	0.408000														44			36		0	0	0.000270559	0	0
SPZ1	84654	broad.mit.edu	37	5	79616044	79616044	+	RNA	SNP	T	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:79616044T>A	uc011ctk.1	-	1		c.1471A>T			SPZ1_uc003kgn.3_Missense_Mutation_p.S4T			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S4T(1)		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)		GATGGCCAGCTCTGCTAAGTC	0.468000														184			135		0	0	0.000147903	0	0
RAVER1	125950	broad.mit.edu	37	19	10434111	10434111	+	Silent	SNP	G	A	A			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr19:10434111G>A	uc002moa.3	-	3	1019	c.939C>T	c.(937-939)ttC>ttT	p.F313F		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	296	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGGGGCGCAGAAGGAGACTC	0.716000														23			9		0	0	1.12685e-05	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:106820975C>T	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-1	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274000														10			4		0	0	1.23904e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92531124	92531125	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr11:92531124_92531125CC>AA	uc001pdj.4	+	8	4962_4963	c.4945_4946CC>AA	c.(4945-4947)ccg>AAg	p.P1649K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1649	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P1649L(2)|p.P1649T(2)		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)				TCAGGGATCCCCGCCAATGTCT	0.470000										TCGA Ovarian(4;0.039)				240			8		0	0	6.4e-05	0	0
ANAPC5	51433	broad.mit.edu	37	12	121783760	121783761	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr12:121783760_121783761GG>TT	uc001uag.3	-	3	593_594	c.471_472CC>AA	c.(469-474)gccctt>gcAAtt	p.L158I	ANAPC5_uc001uah.3_Missense_Mutation_p.L59I	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	158					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACTGCTGAAGGGCAGTGTACA	0.426000														647			14		0	0	6.4e-05	0	0
ZNF592	9640	broad.mit.edu	37	15	85341986	85341986	+	Silent	SNP	C	T	T			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:85341986C>T	uc002bld.3	+	7	3240	c.2904C>T	c.(2902-2904)gcC>gcT	p.A968A	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	968					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGCCTGAAGCCCACCGCAGGG	0.667000														14			8		0	0	1.12685e-05	0	0
HCN1	348980	broad.mit.edu	37	5	45695987	45695995	+	In_Frame_Del	DEL	CCGCCGCCA	-	-	rs56064803	byFrequency	TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr5:45695987_45695995delCCGCCGCCA	uc003jok.3	-	0	226_234	c.201_209delTGGCGGCGG	c.(199-210)ggtggcggcggc>ggc	p.67_70GGGG>G		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	67	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G72_G74delGGG(1)		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						gccgccgccgccgccgccaccgccgccac	0.770													---	8	---	---	11	---					
DEFB113	245927	broad.mit.edu	37	6	49936566	49936566	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr6:49936566delT	uc011dwq.2	-	1	73	c.73delA	c.(73-75)acafs	p.T25fs		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	25					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					ACTTCTCTTGTTTTTTTCTGT	0.353													---	47	---	---	21	---					
BTAF1	9044	broad.mit.edu	37	10	93719631	93719633	+	In_Frame_Del	DEL	TGA	-	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr10:93719631_93719633delTGA	uc001khr.3	+	9	1178_1180	c.1080_1082delTGA	c.(1078-1083)tctgat>tct	p.D361del	BTAF1_uc009xua.1_Non-coding_Transcript|BTAF1_uc001khs.1_In_Frame_Del_p.D31del	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	361					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTTTGTTTCTGATGAAGTAAGT	0.335													---	10	---	---	27	---					
FAM179B	23116	broad.mit.edu	37	14	45478274	45478274	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr14:45478274delC	uc001wvw.3	+	5	3272	c.3063delC	c.(3061-3063)tacfs	p.Y1021fs	FAM179B_uc001wvv.3_Frame_Shift_Del_p.Y1021fs|FAM179B_uc010anc.3_Intron	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	1021	Ser-rich.						binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCAATTCTTACAGTGAAAGTG	0.418													---	39	---	---	27	---					
BLM	641	broad.mit.edu	37	15	91304286	91304288	+	In_Frame_Del	DEL	TGA	-	-			TCGA-FS-A1ZJ-06A-12D-A197-08	TCGA-FS-A1ZJ-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adc4bda9-4163-4f2e-8f17-a00b1f0a28d6	5c310b50-8cea-4b46-a88c-ca87f1daca30	g.chr15:91304286_91304288delTGA	uc002bpr.3	+	6	1780_1782	c.1683_1685delTGA	c.(1681-1686)tttgat>ttt	p.D566del	BLM_uc010uqh.2_In_Frame_Del_p.D566del|BLM_uc010uqi.2_In_Frame_Del_p.D191del|BLM_uc010bnx.3_In_Frame_Del_p.D566del	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	566	Poly-Asp.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGATGACTTTGATGATGATGAT	0.374			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				---	1086	---	---	8	---