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
CYP4F11	57834	broad.mit.edu	37	19	16040288	16040288	+	Missense_Mutation	SNP	G	A	A	rs138578304		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:16040288G>A	uc002nbu.2	-	2	358	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	CYP4F11_uc010eab.1_Missense_Mutation_p.R108W|CYP4F11_uc002nbt.2_Missense_Mutation_p.R108W	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	108					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						GTGATAGGCCGGATAATGTCA	0.557000														120			21		0	0	0.00047179	0	0
IL31RA	133396	broad.mit.edu	37	5	55206397	55206397	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:55206397G>A	uc003jql.3	+	11	1731	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	IL31RA_uc003jqm.3_Silent_p.L494L|IL31RA_uc003jqn.3_Silent_p.L513L|IL31RA_uc010iwa.1_Silent_p.L476L|IL31RA_uc021xyq.1_Silent_p.L494L|IL31RA_uc003jqo.3_Silent_p.L371L	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	481					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACGGCCTGGAGTCCCTGA	0.468000														69			13		0	0	0.000308642	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767424	12767424	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:12767424G>A	uc002mub.2	-	12	1681	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	MAN2B1_uc010dyv.1_Silent_p.F534F	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	535					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCACAACGAAAACGCCTT	0.587000														62			13		0	0	0.00010058	0	0
KCND2	3751	broad.mit.edu	37	7	119914938	119914938	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:119914938C>T	uc003vjj.1	+	0	1217	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	84	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGCAGTATTTCTTTGACCGTG	0.527000														149			21		0	0	0.000295444	0	0
FAM86C1	55199	broad.mit.edu	37	8	8092061	8092061	+	RNA	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:8092061C>T	uc011kwt.2	+	3		c.429C>T			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						TGGCGGAGACCCTGATGGCCA	0.592000														35			8		0	0	6.40141e-05	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128505545	128505545	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:128505545C>T	uc022all.1	+	2	459	c.357C>T	c.(355-357)atC>atT	p.I119I	KCP_uc003vob.1_Intron|ATP6V1F_uc003voc.2_Silent_p.I91I|LOC100130705_uc022alm.1_5'Flank	NM_001198909	NP_001185838	Q16864	VATF_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA.	91					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						TCCTGGAGATCCCCTCCAAGG	0.612000														40			5		0	0	0.000602214	0	0
TRPM2	7226	broad.mit.edu	37	21	45825902	45825902	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr21:45825902C>T	uc010gpt.1	+	17	2872	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	TRPM2_uc002zet.1_Silent_p.I924I|TRPM2_uc002zeu.1_Silent_p.I924I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I924I|TRPM2_uc002zex.1_Silent_p.I710I|TRPM2_uc002zey.1_Silent_p.I437I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	924						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCCCAAGATCATCATTGTGA	0.642000														109			25		0	0	0.000279167	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					28			73		0	0	0.000147903	0	0
SVIL	6840	broad.mit.edu	37	10	29769471	29769471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr10:29769471G>A	uc001iut.1	-	28	6125	c.5372C>T	c.(5371-5373)aCg>aTg	p.T1791M	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.T705M|SVIL_uc001iuu.1_Missense_Mutation_p.T1365M|SVIL_uc009xlc.2_Missense_Mutation_p.T583M	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1791					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.T1791T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTAACCTGCCGTGCTCACCAT	0.562000														48			15		0	0	0.000175454	0	0
CRX	1406	broad.mit.edu	37	19	48343031	48343031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:48343031C>T	uc002phq.4	+	3	911	c.707C>T	c.(706-708)cCc>cTc	p.P236L		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	236					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GCTCTTAGCCCCCTCTCTGGC	0.647000														123			22		0	0	0.00047179	0	0
ZNF423	23090	broad.mit.edu	37	16	49672451	49672451	+	Silent	SNP	G	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:49672451G>T	uc002efs.3	-	4	910	c.612C>A	c.(610-612)tcC>tcA	p.S204S	ZNF423_uc010vgn.2_Silent_p.S87S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	204					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTCGCTGCGGGAGAAGGCTG	0.612000														35			12		0.000151284	0.00356342	0.000151284	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435182	104435182	+	RNA	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:104435182G>A	uc003kok.3	+	0		c.8G>A								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		TTAACGGCAGGAAAATCATCA	0.358000														9			10		0	0	0.000442599	0	0
P2RX7	5027	broad.mit.edu	37	12	121593937	121593937	+	Missense_Mutation	SNP	G	A	A	rs146441492	byFrequency	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:121593937G>A	uc001tzm.3	+	2	502	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	P2RX7_uc001tzn.3_Missense_Mutation_p.R27Q|P2RX7_uc001tzo.3_Non-coding_Transcript|P2RX7_uc001tzp.3_5'UTR|P2RX7_uc001tzq.3_5'UTR	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	117						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGAGCAGCGGTTGTGTCCC	0.522000														301			54		0	0	0.000147903	0	0
MYOM1	8736	broad.mit.edu	37	18	3116374	3116374	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr18:3116374C>T	uc002klp.3	-	20	3592	c.3258G>A	c.(3256-3258)caG>caA	p.Q1086Q	MYOM1_uc002klq.3_Silent_p.Q990Q	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1086	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle	p.D1085G(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCTCGCCACTGGTCTTCTT	0.527000														23			8		0	0	0.000442599	0	0
GRM8	2918	broad.mit.edu	37	7	126173763	126173763	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:126173763A>G	uc003vlr.2	-	7	1984	c.1673T>C	c.(1672-1674)cTg>cCg	p.L558P	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.L558P|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	558					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTCTGATCCAGAGGGCAAAG	0.532000										HNSCC(24;0.065)				107			18		0	0	0.000175454	0	0
EXOC6	54536	broad.mit.edu	37	10	94708065	94708066	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr10:94708065_94708066CC>AA	uc010qnr.2	+	14	1536_1537	c.1393_1394CC>AA	c.(1393-1395)cct>AAt	p.P465N	EXOC6_uc001kie.3_Missense_Mutation_p.P444N|EXOC6_uc001kig.3_Missense_Mutation_p.P449N|EXOC6_uc009xub.3_Missense_Mutation_p.P449N|EXOC6_uc009xuc.3_Missense_Mutation_p.P346N|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.P23N	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	449					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CAGCCCCATCCCTGTTGTCAAT	0.312000														226			10		0	0	6.4e-05	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307194	120307194	+	Missense_Mutation	SNP	C	T	T	rs28937320		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:120307194C>T	uc001eid.3	-	1	248	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	HMGCS2_uc010oxj.2_Missense_Mutation_p.V54M|HMGCS2_uc021osx.1_5'UTR	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	54			V -> M (in HMGCS deficiency; dbSNP:rs28937320).		acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGGATGCCCACGTCCTTTGGC	0.502000														263			57		0	0	0.000147903	0	0
HERC2	8924	broad.mit.edu	37	15	28386694	28386694	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:28386694C>G	uc001zbj.3	-	77	12005	c.11899G>C	c.(11899-11901)Ggc>Cgc	p.G3967R		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3967					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCTTCAATGCCCCCGAGCTGG	0.527000														92			22		0	0	0.000295444	0	0
PTPN18	26469	broad.mit.edu	37	2	131116970	131116970	+	Splice_Site	SNP	G	C	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:131116970G>C	uc002trc.3	+	4	381	c.280_splice	c.e4-1	p.G94_splice	PTPN18_uc002trb.3_Intron	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	94	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CCTTCACCAGGGCGTGGATGG	0.607000														45			7		0	0	8.12818e-05	0	0
SPTA1	6708	broad.mit.edu	37	1	158614069	158614069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:158614069C>T	uc001fst.1	-	29	4511	c.4312G>A	c.(4312-4314)Gat>Aat	p.D1438N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1438					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1437D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTCCAAATCGTCCCGTTTC	0.403000														94			11		0	0	0.000151284	0	0
OR1E2	8388	broad.mit.edu	37	17	3337014	3337014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:3337014C>T	uc010vre.2	-	0	122	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	41					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GAGGAGGTTCCCCAGGAGGGT	0.527000														49			26		0	0	0.000191422	0	0
CDKL3	51265	broad.mit.edu	37	5	133657520	133657520	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:133657520G>C	uc003kzf.4	-	4	733	c.614C>G	c.(613-615)tCt>tGt	p.S205C	CDKL3_uc011cxm.1_Missense_Mutation_p.S12C|CDKL3_uc011cxn.1_Non-coding_Transcript|CDKL3_uc010jdw.2_5'UTR|CDKL3_uc011cxo.1_5'UTR|CDKL3_uc011cxp.1_5'UTR|CDKL3_uc011cxq.2_Missense_Mutation_p.S12C|CDKL3_uc003kzg.4_Missense_Mutation_p.S205C|CDKL3_uc011cxr.1_Missense_Mutation_p.S205C	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	205	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCCAAATCAGAACTACTAGG	0.358000														30			4		0	0	3.59834e-05	0	0
PRSS27	83886	broad.mit.edu	37	16	2763567	2763567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:2763567C>T	uc002crf.3	-	4	1032	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	PRSS27_uc002cre.3_Missense_Mutation_p.C178Y|PRSS27_uc002crg.3_Missense_Mutation_p.C112Y|PRSS27_uc010bst.1_Missense_Mutation_p.C112Y	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	Homo sapiens protease, serine 27 (PRSS27), mRNA.	214	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GAAGCCGGCGCACAGCATGTC	0.592000														89			16		0	0	0.000175454	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677546	19677546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr20:19677546G>A	uc002wrl.3	+	13	1794	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	533						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCATTGTGGCCAGACAAGG	0.607000														49			6		0	0	8.12818e-05	0	0
ODZ1	10178	broad.mit.edu	37	X	123519727	123519727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chrX:123519727C>T	uc010nqy.3	-	28	5940	c.5876G>A	c.(5875-5877)cGa>cAa	p.R1959Q	ODZ1_uc011muj.2_Missense_Mutation_p.R1958Q|ODZ1_uc004euj.3_Missense_Mutation_p.R1952Q	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1952					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCGGCCATCTCGACTATAGTC	0.498000														27			44		0	0	0.000589545	0	0
CLVS1	157807	broad.mit.edu	37	8	62212623	62212623	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:62212623T>G	uc003xuh.3	+	1	561	c.237T>G	c.(235-237)ttT>ttG	p.F79L	CLVS1_uc003xug.2_Missense_Mutation_p.F79L|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	79					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCCTGAGATTTCTCCGAGCCA	0.463000														51			4		0	0	0.00024832	0	0
APC	324	broad.mit.edu	37	5	112175907	112175907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:112175907C>T	uc003kpz.4	+	16	4809	c.4616C>T	c.(4615-4617)tCa>tTa	p.S1539L	APC_uc011cvt.2_Missense_Mutation_p.S1521L|APC_uc003kpy.4_Missense_Mutation_p.S1539L|APC_uc010jbz.3_Missense_Mutation_p.S1256L|APC_uc010jca.3_Missense_Mutation_p.S839L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1539	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1539*(2)|p.E1538fs*5(2)|p.?(1)|p.E1540fs*4(1)|p.S1539fs*5(1)|p.K1192fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAACAGAATCAGAGCAGCCT	0.368000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				72			12		0	0	6.40141e-05	0	0
RDH10	157506	broad.mit.edu	37	8	74235028	74235028	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:74235028C>T	uc003xzi.3	+	4	1573	c.885C>T	c.(883-885)atC>atT	p.I295I	RDH10_uc003xzj.3_Silent_p.I130I|AK128216_uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	295					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCATGTACATCGTGACCTTCA	0.522000														41			29		0	0	0.000227799	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43555412	43555412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:43555412C>T	uc002ija.3	-	2	320	c.150G>A	c.(148-150)atG>atA	p.M50I	PLEKHM1_uc010wjm.2_Intron|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Intron|PLEKHM1_uc021tym.1_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	50	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGGCGCTGCACATGGTGTTGG	0.567000														32			12		0	0	0.00010058	0	0
HEATR6	63897	broad.mit.edu	37	17	58144970	58144970	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:58144970C>T	uc002iyk.1	-	7	1080	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.E187K	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	355							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTGTTCCCTTCATGCAGGTTC	0.507000														36			6		0	0	3.59834e-05	0	0
DDX12P	440081	broad.mit.edu	37	12	9580293	9580293	+	RNA	SNP	A	G	G	rs139954536	by1000genomes	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:9580293A>G	uc021qut.1	-	4		c.329T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.M473T(1)									CTTCAGCTCCATCCCTGAGAA	0.502000														38			5		0	0	0.000602214	0	0
RNASE3	6037	broad.mit.edu	37	14	21360234	21360234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr14:21360234G>A	uc021roq.1	+	0	389	c.389G>A	c.(388-390)gGa>gAa	p.G130E	RNASE3_uc001vyj.3_Missense_Mutation_p.G130E	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	130			G -> R (in dbSNP:rs12147890).		RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GACAGACCAGGAAGGAGGTTC	0.478000														27			33		0	0	0.000491102	0	0
ZNF99	7652	broad.mit.edu	37	19	22940294	22940294	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:22940294T>A	uc021urt.1	-	3	2572	c.2417A>T	c.(2416-2418)aAa>aTa	p.K806I		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATCTCATGTTTTCTAAGGGT	0.333000														37			11		0	0	3.86212e-05	0	0
STAU2	27067	broad.mit.edu	37	8	74516060	74516060	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:74516060G>A	uc003xzm.3	-	9	1271	c.930C>T	c.(928-930)agC>agT	p.S310S	STAU2_uc011lfh.2_Silent_p.S206S|STAU2_uc003xzn.3_Silent_p.S278S|STAU2_uc011lfg.2_Silent_p.S138S|STAU2_uc003xzo.3_Silent_p.S310S|STAU2_uc003xzq.3_Silent_p.S90S|STAU2_uc003xzp.3_Silent_p.S278S|STAU2_uc011lfi.2_Silent_p.S272S|STAU2_uc010lzk.3_Silent_p.S278S|STAU2_uc010lzl.1_Silent_p.S138S	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	310	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCGCCAGGCGGCTAATAGGGT	0.408000														47			14		0	0	0.000219431	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195349	18195349	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:18195349G>A	uc001mnv.1	+	0	966	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	182			A -> V (in dbSNP:rs11024532).			integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TCCCAGTCGCGTGGCTGATTT	0.512000														101			21		0	0	0.000229342	0	0
TAF1L	138474	broad.mit.edu	37	9	32631651	32631651	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:32631651C>T	uc003zrg.1	-	0	4017	c.3927G>A	c.(3925-3927)tcG>tcA	p.S1309S	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1309					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAACAGGTTTCGAAGGTGGCA	0.428000														129			75		0	0	0.000147903	0	0
ZNF676	163223	broad.mit.edu	37	19	22363738	22363738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:22363738C>T	uc002nqs.1	-	2	1099	c.781G>A	c.(781-783)Gga>Aga	p.G261R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTACTAAATCCTTTGCCACAT	0.393000														37			15		0	0	0.000566183	0	0
TGFB3	7043	broad.mit.edu	37	14	76437468	76437468	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr14:76437468C>T	uc001xsc.2	-	3	1502	c.646_splice	c.e3+1	p.E216_splice	TGFB3_uc001xsd.3_Splice_Site_p.E214_splice	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	216					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		GGTCCACCTACCTCTTCTCAA	0.517000														77			14		0	0	0.000308642	0	0
SCN2A	6326	broad.mit.edu	37	2	166231203	166231203	+	Silent	SNP	A	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:166231203A>G	uc002udc.3	+	21	4271	c.3981A>G	c.(3979-3981)gtA>gtG	p.V1327V	SCN2A_uc002udd.3_Silent_p.V1327V|SCN2A_uc002ude.3_Silent_p.V1327V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1327					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGGTTGTTGTAAATGCTCTTT	0.328000														129			18		0	0	0.000175454	0	0
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	G	G	rs146851066	by1000genomes	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:248801912C>G	uc001ies.1	-	0	648	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(2)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542000														9			4		0	0	0.00024832	0	0
WDR41	55255	broad.mit.edu	37	5	76734149	76734149	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:76734149T>C	uc003kff.1	-	9	1207	c.920A>G	c.(919-921)tAt>tGt	p.Y307C	WDR41_uc011csy.1_Missense_Mutation_p.Y249C|WDR41_uc011csz.1_Missense_Mutation_p.Y252C|WDR41_uc011cta.1_Non-coding_Transcript	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	307										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TTGAAGGCTATACACGTATAA	0.448000														74			23		0	0	0.000229342	0	0
SETD1A	9739	broad.mit.edu	37	16	30975994	30975994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:30975994C>T	uc002ead.1	+	6	1617	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	311	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	p.S310F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGCCTTTTCCCGCCGCCACTT	0.602000														93			16		0	0	0.000566183	0	0
C15orf54	400360	broad.mit.edu	37	15	39544862	39544862	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:39544862A>G	uc001zkg.2	+	1	894	c.526A>G	c.(526-528)Atg>Gtg	p.M176V	C15orf54_uc021sjb.1_Missense_Mutation_p.M176V	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	176										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GTTCAATGTCATGGCTGTAAG	0.468000														57			7		0	0	0.000157383	0	0
C7orf58	79974	broad.mit.edu	37	7	120906769	120906769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:120906769C>T	uc003vjq.4	+	19	2987	c.2540C>T	c.(2539-2541)cCc>cTc	p.P847L		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	847						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGATCACGTCCCCTAGAGAAT	0.398000														89			9		0	0	3.86212e-05	0	0
SGSM1	129049	broad.mit.edu	37	22	25255689	25255689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr22:25255689G>A	uc003abg.2	+	8	965	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SGSM1_uc010guu.1_Missense_Mutation_p.D270N|SGSM1_uc003abh.2_Missense_Mutation_p.D270N|SGSM1_uc003abj.2_Missense_Mutation_p.D270N|SGSM1_uc003abi.1_Missense_Mutation_p.D245N|SGSM1_uc003abf.2_Missense_Mutation_p.D270N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	270						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGGGACGACATGGAGGC	0.562000														25			9		0	0	0.000274275	0	0
TNC	3371	broad.mit.edu	37	9	117846627	117846627	+	Silent	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:117846627C>A	uc004bjj.4	-	3	2404	c.1992G>T	c.(1990-1992)ctG>ctT	p.L664L	TNC_uc010mvf.3_Silent_p.L664L|TNC_uc022bmj.1_Silent_p.L664L	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	664	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGCATTTCCAGACCACCCT	0.567000														33			6		2.7689e-08	6.9339e-07	8.12818e-05	1	0
SLC5A1	6523	broad.mit.edu	37	22	32464543	32464543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr22:32464543C>T	uc003amc.3	+	4	683	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	SLC5A1_uc011alz.2_Missense_Mutation_p.L18F	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	145					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCAGGTCTACCTTTCCCTTCT	0.582000														47			18		0	0	0.000295444	0	0
LOC441601	441601	broad.mit.edu	37	11	50252746	50252746	+	RNA	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:50252746G>A	uc001nhd.3	-	2		c.450C>T								Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA.																		GTTCACGCATGATTCTGCATT	0.388000														41			7		0	0	8.12818e-05	0	0
OR6C4	341418	broad.mit.edu	37	12	55945074	55945074	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:55945074C>A	uc010spp.2	+	0	64	c.64C>A	c.(64-66)Caa>Aaa	p.Q22K		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCTGAACTCCAAGTGATGAT	0.418000														87			18		3.32936e-07	8.25057e-06	7.07596e-05	1	0
X97876	0	broad.mit.edu	37	9	66500871	66500871	+	RNA	SNP	T	C	C	rs11262348		TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:66500871T>C	uc004aed.1	+	2		c.964T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		TACACGGAACTGCTGTTGGTC	0.597000														24			4		0	0	0.000602214	0	0
COL5A2	1290	broad.mit.edu	37	2	189904130	189904130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:189904130C>T	uc002uqk.3	-	50	4068	c.3793G>A	c.(3793-3795)Gac>Aac	p.D1265N	COL5A2_uc010frx.3_Missense_Mutation_p.D841N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1265					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCCTGGGTCCGTTTTGTTT	0.517000														34			20		0	0	9.7654e-05	0	0
NLRP7	199713	broad.mit.edu	37	19	55445871	55445871	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:55445871G>A	uc002qih.4	-	6	2533	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	NLRP7_uc010esk.3_Silent_p.F819F|NLRP7_uc002qig.4_Silent_p.F791F|NLRP7_uc002qii.4_Silent_p.F819F|NLRP7_uc010esl.3_Silent_p.F847F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	819							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACATCTGCAGGAAGTGTTTTG	0.532000														80			12		0	0	0.000151284	0	0
DDX12P	440081	broad.mit.edu	37	12	9580280	9580280	+	RNA	SNP	A	G	G	rs146037854	by1000genomes	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:9580280A>G	uc021qut.1	-	4		c.342T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		AGTCGTTGATAGTCTTCAGCT	0.493000														37			6		0	0	3.59834e-05	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859130	67859130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:67859130G>A	uc010vka.2	+	6	845	c.769G>A	c.(769-771)Gag>Aag	p.E257K	TSNAXIP1_uc010cep.2_Missense_Mutation_p.E67K|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.E80K|TSNAXIP1_uc002euf.4_5'UTR|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.E188K|TSNAXIP1_uc002eug.4_5'UTR|TSNAXIP1_uc002euh.4_5'UTR|TSNAXIP1_uc002eui.4_5'UTR|TSNAXIP1_uc002euj.3_Missense_Mutation_p.E203K|TSNAXIP1_uc002euk.3_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	203					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		AGACCTGAATGAGCTGCGGTA	0.532000														73			8		0	0	0.000442599	0	0
MGA	23269	broad.mit.edu	37	15	42041031	42041031	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:42041031C>T	uc010ucy.2	+	15	5590	c.5409C>T	c.(5407-5409)caC>caT	p.H1803H	MGA_uc010ucz.2_Silent_p.H1594H|MGA_uc010uda.1_Silent_p.H419H|MGA_uc001zoi.3_Silent_p.H17H	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1764						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TATTCAGGCACCCTAATGGGC	0.483000														60			14		0	0	0.000151284	0	0
PLCH1	23007	broad.mit.edu	37	3	155199996	155199996	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr3:155199996G>A	uc021xge.1	-	22	4120	c.3843C>T	c.(3841-3843)ccC>ccT	p.P1281P	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.P1243P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1281					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTAGAGATGGGAGTGCAGG	0.488000														176			32		0	0	0.000132358	0	0
FAF2	23197	broad.mit.edu	37	5	175927084	175927084	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:175927084C>G	uc003mej.4	+	9	1145	c.1092C>G	c.(1090-1092)atC>atG	p.I364M		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	364	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GTGTCAAGATCATCTTCAAAT	0.433000														115			14		0	0	0.000566183	0	0
HLA-C	3107	broad.mit.edu	37	6	31323218	31323218	+	Silent	SNP	G	C	C			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr6:31323218G>C	uc003nth.2	-	3	825	c.771C>G	c.(769-771)acC>acG	p.T257T	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Silent_p.T136T|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	257	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCTGGTCTGGTCTCCACAA	0.587000														60			14		0	0	0.000219431	0	0
NFX1	4799	broad.mit.edu	37	9	33328583	33328583	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:33328583C>T	uc003zsr.3	+	9	2064	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	NFX1_uc011lnw.2_Silent_p.F637F|NFX1_uc003zso.3_Silent_p.F637F|NFX1_uc003zsp.2_Silent_p.F637F|NFX1_uc010mjr.2_Silent_p.F637F|NFX1_uc003zsq.3_Silent_p.F637F	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	637					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TTAAAGATTTCATTCATACCT	0.418000														77			15		0	0	0.000308642	0	0
NSUN4	387338	broad.mit.edu	37	1	46818685	46818685	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:46818685G>A	uc001cpr.1	+	3	847	c.738G>A	c.(736-738)ggG>ggA	p.G246G	NSUN4_uc010omc.1_Silent_p.G197G|NSUN4_uc009vyf.1_Silent_p.G95G|NSUN4_uc009vyg.1_Silent_p.G197G|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	246							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AACTGGAGGGGGACACCTATG	0.517000														48			5		0	0	8.12818e-05	0	0
SIRT4	23409	broad.mit.edu	37	12	120750786	120750786	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:120750786C>A	uc001tyc.3	+	3	951	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	298	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGCGTGTCTGAAACTGAA	0.493000														88			28		7.01153e-11	1.7936e-09	0.000184323	1	0
RTKN	6242	broad.mit.edu	37	2	74654713	74654713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:74654713G>A	uc002sle.3	-	9	1210	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	RTKN_uc002slc.3_Nonsense_Mutation_p.R352*|RTKN_uc002sld.3_Nonsense_Mutation_p.R315*	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	365	PH.			RV -> PI (in Ref. 3; AAG01181).	Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GCCCGGACTCGAGTCTCCTGC	0.547000														141			25		0	0	0.000147802	0	0
JMY	133746	broad.mit.edu	37	5	78610271	78610271	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:78610271C>T	uc003kfx.4	+	8	2805	c.2256C>T	c.(2254-2256)ccC>ccT	p.P752P	JMY_uc003kfw.1_Silent_p.P398P	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	752					'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CAACAGAACCCCAGAGCCTTG	0.458000														126			26		0	0	0.00047179	0	0
HEPACAM	220296	broad.mit.edu	37	11	124792340	124792340	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:124792340G>A	uc001qbk.3	-	5	1298	c.892C>T	c.(892-894)Cga>Tga	p.R298*	HEPACAM_uc009zbj.3_Nonsense_Mutation_p.R16*	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	298					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.R298*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCACCACTTCGAGGGAGGGTG	0.607000														91			25		0	0	9.22233e-05	0	0
SLIT3	6586	broad.mit.edu	37	5	168271604	168271604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:168271604C>T	uc010jjg.3	-	5	962	c.542G>A	c.(541-543)cGc>cAc	p.R181H	SLIT3_uc003mab.3_Missense_Mutation_p.R181H|SLIT3_uc010jji.2_Missense_Mutation_p.R181H|SLIT3_uc003mac.1_5'UTR	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	181					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAAATCGCGCAGCGCTCG	0.562000														16			21		0	0	0.000117367	0	0
CLMP	79827	broad.mit.edu	37	11	122953836	122953836	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:122953836G>A	uc001pyt.3	-	4	995	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	212	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TCCCAGCTTCGTTGCCTGCTG	0.453000														64			8		0	0	0.000442599	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122560	33122560	+	Silent	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr20:33122560C>A	uc002xal.3	+	2	268	c.208C>A	c.(208-210)Cga>Aga	p.R70R	DYNLRB1_uc010zuk.2_Silent_p.R70R	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	70					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537000														50			7		5.18039e-06	0.000123242	0.000157383	1	0
ZNF536	9745	broad.mit.edu	37	19	31039944	31039944	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:31039944C>A	uc002nsu.1	+	3	3556	c.3418C>A	c.(3418-3420)Cac>Aac	p.H1140N	ZNF536_uc010edd.1_Missense_Mutation_p.H1140N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGGAAAGGCCCACTCTGAAGA	0.542000														44			14		4.3838e-07	1.05344e-05	0.000151284	1	0
SLC26A3	1811	broad.mit.edu	37	7	107418723	107418723	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:107418723T>A	uc003ver.2	-	12	1622	c.1411A>T	c.(1411-1413)Att>Ttt	p.I471F	SLC26A3_uc003ves.2_Missense_Mutation_p.I436F	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	471					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATGATCCAAATTAACTGTGAA	0.393000														34			5		0	0	0.000602214	0	0
FAF2	23197	broad.mit.edu	37	5	175927043	175927043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:175927043C>T	uc003mej.4	+	9	1104	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	351					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GGAATGCCTGCCCCCTGAACC	0.428000														111			14		0	0	0.000308642	0	0
EGFR	1956	broad.mit.edu	37	7	55221747	55221747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:55221747G>A	uc003tqk.3	+	6	1037	c.791G>A	c.(790-792)tGc>tAc	p.C264Y	EGFR_uc003tqh.3_Missense_Mutation_p.C264Y|EGFR_uc003tqi.3_Missense_Mutation_p.C264Y|EGFR_uc003tqj.3_Missense_Mutation_p.C264Y|EGFR_uc022adm.1_Missense_Mutation_p.C264Y|EGFR_uc010kzg.2_Missense_Mutation_p.C219Y|EGFR_uc022adn.1_Missense_Mutation_p.C219Y|EGFR_uc011kco.2_Missense_Mutation_p.C211Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	264					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGGACACCTGCCCCCCACTC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				44			9		0	0	0.000442599	0	0
ZNF208	7757	broad.mit.edu	37	19	22154362	22154362	+	Silent	SNP	A	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:22154362A>G	uc021urr.1	-	3	3623	c.3474T>C	c.(3472-3474)taT>taC	p.Y1158Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTTCTTATGATAACTAAGGG	0.353000														41			5		0	0	8.12818e-05	0	0
IFNA21	3452	broad.mit.edu	37	9	21166051	21166051	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:21166051C>T	uc003zom.2	-	0	609	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	187					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTCATTCCTTCCTCCTTAATC	0.383000														79			16		0	0	0.000308642	0	0
OR1A2	26189	broad.mit.edu	37	17	3100984	3100984	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:3100984C>A	uc002fvd.1	+	0	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CCTTCACAACCCCATGTATTT	0.458000														229			27		2.80507e-11	7.25355e-10	0.000409698	1	0
GRIN2B	2904	broad.mit.edu	37	12	13717349	13717349	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr12:13717349G>A	uc001rbt.2	-	12	3002	c.2823C>T	c.(2821-2823)ttC>ttT	p.F941F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	941					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGAATGCGTGAAGCTGCGGC	0.557000														113			20		0	0	0.000229342	0	0
XK	7504	broad.mit.edu	37	X	37545249	37545249	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chrX:37545249T>G	uc004ddq.3	+	0	117	c.35T>G	c.(34-36)tTc>tGc	p.F12C		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	12					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GCGTCCGTGTTCCTGTTCGTG	0.697000														2			3		0	0	0.00024832	0	0
FANCC	2176	broad.mit.edu	37	9	97887370	97887370	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr9:97887370G>T	uc022bkl.1	-	9	1198	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	FANCC_uc004avh.3_Missense_Mutation_p.Q332K|FANCC_uc004avi.4_Missense_Mutation_p.Q332K|BC041030_uc004avj.3_5'Flank	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	332					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TAACAAACCTGCTTGCTTGCT	0.418000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					27			14		0.000308642	0.00712873	0.000308642	1	0
INPP4A	3631	broad.mit.edu	37	2	99149957	99149957	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:99149957A>G	uc002syy.3	+	5	663	c.270_splice	c.e5+1	p.E90_splice	INPP4A_uc010yvj.1_Splice_Site_p.E90_splice|INPP4A_uc010yvk.2_Splice_Site_p.E90_splice|INPP4A_uc002syx.3_Splice_Site_p.E90_splice|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	90	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAGATCATTGAGGTGGGTGCT	0.522000														52			5		0	0	3.59834e-05	0	0
TTN	7273	broad.mit.edu	37	2	179597184	179597184	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr2:179597184G>T	uc021vsy.1	-	52	13097	c.12872C>A	c.(12871-12873)gCa>gAa	p.A4291E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A952E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5218	Ig-like 23.		I -> T (in a colorectal adenocarcinoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A4291fs*2(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACAAGTTTGCACTGCATTC	0.388000														65			13		4.3838e-07	1.05344e-05	0.000151284	1	0
RP1	6101	broad.mit.edu	37	8	55540425	55540425	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr8:55540425C>A	uc003xsd.1	+	3	4131	c.3983C>A	c.(3982-3984)cCa>cAa	p.P1328Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1328					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCTTGCCCAATTGATGAG	0.403000														114			7		0.000157383	0.00367073	0.000157383	1	0
MAGI1	9223	broad.mit.edu	37	3	65342698	65342698	+	Silent	SNP	G	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr3:65342698G>T	uc003dmn.3	-	22	4270	c.3744C>A	c.(3742-3744)ccC>ccA	p.P1248P	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1277					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGAAGATCGGGTGGGTAAC	0.612000														64			10		4.3838e-07	1.05344e-05	0.000151284	1	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr16:72821615G>A	uc002fck.3	-	9	11233	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.G2606G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000														20			5		0	0	0.000602214	0	0
ZNF333	84449	broad.mit.edu	37	19	14806397	14806397	+	Silent	SNP	C	T	T			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr19:14806397C>T	uc002mzn.3	+	3	281	c.147C>T	c.(145-147)ccC>ccT	p.P49P	ZNF333_uc010dzq.2_Silent_p.P49P|ZNF333_uc002mzk.4_5'UTR|ZNF333_uc002mzl.3_Silent_p.P49P|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	49	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P49L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CATGCAAACCCAGTTGTGTCT	0.527000														29			11		0	0	6.40141e-05	0	0
MGAM	8972	broad.mit.edu	37	7	141799419	141799419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr7:141799419G>A	uc003vwy.3	+	43	5122	c.5068G>A	c.(5068-5070)Gat>Aat	p.D1690N		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1690	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAGGGTGTGGATATTAATGC	0.537000														52			51		0	0	0.000147903	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163201	139163201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr4:139163201G>A	uc021xrw.1	-	0	303	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	8					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGAGATGGTGGACACAACAGG	0.493000														21			6		0	0	3.59834e-05	0	0
ANPEP	290	broad.mit.edu	37	15	90347174	90347174	+	Silent	SNP	G	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr15:90347174G>A	uc002bop.4	-	6	1531	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	413	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGTAGGAGGCGAAGCCCTCGT	0.642000														23			14		0	0	7.07596e-05	0	0
OR52N1	79473	broad.mit.edu	37	11	5809489	5809489	+	Silent	SNP	C	A	A			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:5809489C>A	uc010qzo.2	-	0	558	c.558G>T	c.(556-558)gtG>gtT	p.V186V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATATCTTGGCCACAGACATGT	0.493000														23			22		5.26018e-13	1.39044e-11	0.000229342	1	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	-	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr1:1850628_1850636delAGCGGCAGG	uc001aij.2	-	0	105_113	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_uc001aii.2_5'Flank	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													---	5	---	---	5	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr5:149216400_149216402delCAG	uc003lrc.3	+	7	2473_2475	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.S799del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.S760del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.S735del|PPARGC1B_uc003lre.1_In_Frame_Del_p.S778del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.S778del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	799	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													---	127	---	---	7	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	-	-	rs2234451	byFrequency	TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr11:5529918_5529920delTGG	uc021qcw.1	-	0	869_871	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													---	167	---	---	8	---					
CPD	1362	broad.mit.edu	37	17	28769357	28769358	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A2M7-06A-11D-A197-08	TCGA-EE-A2M7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dc5d0f51-0461-4183-bbda-a47dbfbb0052	2ad50067-18fc-4eee-ae12-3db1c6a59847	g.chr17:28769357_28769358delAA	uc002hfb.2	+	9	2319_2320	c.2262_2263delAA	c.(2260-2265)acaaatfs	p.T754fs	CPD_uc010wbo.2_Frame_Shift_Del_p.T507fs|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	754	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ATTTACAAACAAATTGCTTTGA	0.361													---	119	---	---	23	---					
