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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LTBP1	4052	broad.mit.edu	37	2	33614279	33614279	+	Silent	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:33614279C>A	uc021vft.1	+	31	4763	c.4740C>A	c.(4738-4740)ccC>ccA	p.P1580P	LTBP1_uc002rou.3_Silent_p.P1254P|LTBP1_uc002rov.3_Silent_p.P1201P|LTBP1_uc010ymz.2_Silent_p.P1212P|LTBP1_uc010yna.2_Silent_p.P1159P|LTBP1_uc010ynb.2_Silent_p.P478P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1580					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTAACATCCCCGTGACGGGAC	0.572000													4	119					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:167095421C>T	uc001geb.1	+	4	1069	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662000													5	18					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:3658496G>A	uc002cvp.2	-	1	1097	c.470C>T	c.(469-471)gCa>gTa	p.A157V	SLX4_uc002cvq.1_Missense_Mutation_p.A157V	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	157	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.A157V(2)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGTTTTGTGCTGTTTCCCG	0.522000								Direct reversal of damage					6	142					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519267	43519267	+	Splice_Site	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:43519267C>A	uc002ovm.1	-	4	1071	c.964_splice	c.e4+1	p.A322_splice	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Splice_Site_p.A200_splice|PSG11_uc002ovo.1_Splice_Site_p.A200_splice	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	322					female pregnancy	extracellular region		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATCCACTTACCAATGACTCT	0.473000													12	158					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74056731	74056731	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:74056731T>C	uc010izj.1	-	3	566	c.240A>G	c.(238-240)ctA>ctG	p.L80L	GFM2_uc003kdh.1_Silent_p.L48L|GFM2_uc003kdi.1_Silent_p.L48L|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.L48L|GFM2_uc010izl.1_Silent_p.L48L	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	48					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.L48L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTACCTGGTAGAGAACTGC	0.338000													6	174					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685462	248685462	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248685462G>A	uc001ien.1	+	0	515	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172H(2)|p.H171N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCGCACACTGGAT	0.552000													4	66					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:29625875T>C	uc010ztl.1	+	1	61	c.29T>C	c.(28-30)aTc>aCc	p.I10T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I40T(4)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													9	69					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:10233907T>A	uc001qxb.3	-	2	404	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_uc001qxd.3_Missense_Mutation_p.N64I|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	107					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.N107I(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAGCTTTATATTCTGGACTTG	0.448000													5	92					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68846165	68846165	+	Splice_Site	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:68846165C>T	uc002ewg.1	+	8	1261	c.1137_splice	c.e8+1	p.T379_splice	CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.T379_splice	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	379	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T379M(2)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCCCACCACGGTAATTCTA	0.453000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				6	65					0	0	1	0	0
BRD9	65980	broad.mit.edu	37	5	889273	889273	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:889273G>A	uc003jbq.3	-	4	636	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	BRD9_uc003jbl.3_Missense_Mutation_p.P41S|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.P104S|BRD9_uc003jbo.3_Missense_Mutation_p.P41S|BRD9_uc011cmc.1_Non-coding_Transcript	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	157	Bromo.						nucleic acid binding	p.P41S(1)|p.P157S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AATCCATGGGGATCTTTTCTG	0.343000													13	15					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:57173364T>A	uc001cyk.4	+	8	1708	c.1637T>A	c.(1636-1638)cTg>cAg	p.L546Q		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	546					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.L546Q(4)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGTGCCAGTCTGATTACTACT	0.388000													4	142					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140516811G>A	uc003liq.3	+	0	2012	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A599T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716000													20	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:179432336G>A	uc021vsy.1	-	274	71044	c.70819C>T	c.(70819-70821)Ccc>Tcc	p.P23607S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17302S|TTN_uc021vta.1_Missense_Mutation_p.P17235S|TTN_uc021vtb.1_Missense_Mutation_p.P17110S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24534	Fibronectin type-III 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(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)			CTGTCAGAGGGTTTACTTATT	0.388000													6	92					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:51361766A>C	uc021uyi.1	+	3	586	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_uc002pts.1_Missense_Mutation_p.D182A|KLK3_uc002ptr.1_Missense_Mutation_p.D139A|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	182	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D182A(3)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATTTCCAATGACGTGTGTGCG	0.547000													6	175					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24682652	24682652	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr14:24682652C>G	uc010tob.1	-	0	706	c.72G>C	c.(70-72)gaG>gaC	p.E24D	TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_Missense_Mutation_p.E41D|TM9SF1_uc001wnj.3_Missense_Mutation_p.E41D|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc001wnl.2_3'UTR|NEDD8-MDP1_uc021rrl.1_3'UTR|NEDD8-MDP1_uc001wnm.2_3'UTR|NEDD8-MDP1_uc021rrm.1_3'UTR	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.E41D(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TCATCGCGAGCTCGCCTCTCC	0.672000													6	50					0	0	1	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285934	248285934	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248285934G>A	uc001idy.1	+	0	497	c.497G>A	c.(496-498)cGt>cAt	p.R166H						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		GGAGAGGGTCGTCGCAAAGCT	0.468000													24	249					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19360324	19360324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:19360324C>A	uc003znq.3	+	23	4468	c.4388C>A	c.(4387-4389)tCt>tAt	p.S1463Y	DENND4C_uc011lnc.2_Missense_Mutation_p.S793Y|DENND4C_uc011lnd.2_Missense_Mutation_p.S751Y|DENND4C_uc003znr.3_Missense_Mutation_p.S751Y|DENND4C_uc003zns.3_Missense_Mutation_p.S645Y	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1463						integral to membrane		p.S1463Y(2)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAACTTGAATCTTTGCTAGAA	0.378000													4	146					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:33504058A>G	uc002hja.3	+	15	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_uc002hjb.3_Missense_Mutation_p.E683G|UNC45B_uc002hjc.3_Missense_Mutation_p.E683G|UNC45B_uc010cto.3_Missense_Mutation_p.E604G	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	685					cell differentiation|muscle organ development	cytosol	binding	p.E685G(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGCTTTGGAGGGCACAGAT	0.572000													3	133					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87847206	87847206	+	Missense_Mutation	SNP	G	G	T	rs115475721	byFrequency	TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:87847206G>T	uc001pcj.2	-	2	669	c.586C>A	c.(586-588)Cat>Aat	p.H196N		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	196					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATGTGAGATGGGGCTTCACG	0.473000													4	161					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:53263147T>A	uc003dgo.3	-	9	1443	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_uc003dgp.2_Missense_Mutation_p.D56V|TKT_uc011beo.1_Missense_Mutation_p.D377V|TKT_uc003dgq.3_Missense_Mutation_p.D424V|TKT_uc011beq.2_Missense_Mutation_p.D432V|TKT_uc011ber.2_Missense_Mutation_p.D226V	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	424					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.D424V(2)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGAGGGCCCGTCTTCCCCTGG	0.572000													5	157					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626466	1626466	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:1626466C>T	uc003wpl.3	+	8	2232	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	DLGAP2_uc003wpm.3_Missense_Mutation_p.T698M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	791					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.T756M(1)|p.T720M(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACATCACCACGGAGGACAAA	0.622000													17	53					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:14875286A>C	uc002mzp.1	-	10	1499	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.L348R|EMR2_uc002mzo.1_Missense_Mutation_p.L348R|EMR2_uc002mzq.1_Missense_Mutation_p.L299R|EMR2_uc002mzr.1_Missense_Mutation_p.L299R|EMR2_uc002mzs.1_Missense_Mutation_p.L206R|EMR2_uc002mzt.1_Missense_Mutation_p.L255R|EMR2_uc002mzu.1_Missense_Mutation_p.L255R|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	348					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.L348R(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCATTGGAAAGGTTCTTGCT	0.577000													3	63					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:18504896T>C	uc003zne.4	+	1	285	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_uc003znb.3_Missense_Mutation_p.C45R|ADAMTSL1_uc003znc.4_Missense_Mutation_p.C45R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	45	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C45R(3)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGAGTGAATGCTCACGCAC	0.607000													11	98					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:29628263A>G	uc010ztl.1	+	2	207	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	86					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr4:155506852A>G	uc003iod.1	-	4	1787	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	FGA_uc003ioe.1_Missense_Mutation_p.S577P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	577					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S577P(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGTAACTTGAAGATTTACCA	0.443000													25	82					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:68950516A>T	uc003xxv.1	+	6	855	c.828A>T	c.(826-828)aaA>aaT	p.K276N	PREX2_uc003xxu.1_Missense_Mutation_p.K276N|PREX2_uc011lez.1_Missense_Mutation_p.K211N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	276	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.K276N(3)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTACTGCAAAAGAAAACACA	0.403000													14	33					0	0	1	0	0
ZNF747	65988	broad.mit.edu	37	16	30545567	30545567	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:30545567C>A	uc002dyn.3	-	0	628	c.434G>T	c.(433-435)cGg>cTg	p.R145L	ZNF768_uc010vex.2_5'UTR|ZNF747_uc002dyo.1_Missense_Mutation_p.R145L|ZNF747_uc010vey.1_Missense_Mutation_p.R145L|AK056973_uc002dyp.1_5'Flank	NM_023931	NP_076420	Q9BV97	ZN747_HUMAN	Homo sapiens zinc finger protein 747 (ZNF747), mRNA.	145					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	p.R145L(2)		kidney(1)|lung(3)|prostate(1)	5						CCTGGGCAGCCGGATCCCACA	0.637000													3	5					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110815282	110815282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:110815282C>A	uc001tqo.2	-	8	1376	c.1375G>T	c.(1375-1377)Gag>Tag	p.E459*	ANAPC7_uc001tqp.4_Nonsense_Mutation_p.E459*	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	459					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	p.E425*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTGGCTTTCTCCTGTGTCACT	0.418000													4	123					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508665	24508665	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr10:24508665C>T	uc001iru.4	+	1	584	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Missense_Mutation_p.R61C|KIAA1217_uc010qcy.2_Missense_Mutation_p.R61C|KIAA1217_uc010qcz.2_Missense_Mutation_p.R61C	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	61					embryonic skeletal system development	cytoplasm		p.R61C(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGTCTTCCCGCAATATCCC	0.498000													12	57					0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55064978	55064978	+	RNA	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:55064978T>C	uc021qjb.1	-	1		c.448A>G			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		GTTCTGGTGGTTTCCATGTTC	0.408000													12	36					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491719	30491719	+	Silent	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:30491719G>T	uc003tav.3	-	5	1837	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	438	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCAGGCTGCTGGGCTGCATCC	0.652000													4	83					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1679918	1679918	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:1679918C>T	uc002ftl.3	+	6	1036	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	293					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.L293L(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGGAGAGCCTCACCTCCGAGT	0.522000													5	166					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140590277G>A	uc003liz.3	+	0	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_uc011dak.2_Missense_Mutation_p.A263T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	600	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A600T(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716000													7	234					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70818709	70818709	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:70818709G>A	uc002ezm.3	-	3	714	c.456C>T	c.(454-456)agC>agT	p.S152S	VAC14_uc010cfw.3_5'UTR|VAC14_uc002ezn.3_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	152					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.S152S(2)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCTCAGATCCGCTTTTCACAT	0.502000													8	165					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248343988G>A	uc010pzf.2	+	0	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468000													35	79					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118480735	118480735	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:118480735C>A	uc001twr.2	-	3	568	c.470G>T	c.(469-471)aGa>aTa	p.R157I	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.R157I	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	157					intracellular signal transduction			p.R157I(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTCAGATCTCTCACGACATC	0.562000													4	141					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415470	57415470	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:57415470C>T	uc021wfl.1	+	0	676	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.Y103Y|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	105					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			32	91					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575501	12575501	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:12575501C>A	uc002mtv.4	-	3	1396	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF709_uc002mtw.4_Missense_Mutation_p.R380I|ZNF709_uc002mtx.4_Missense_Mutation_p.R412I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R412I(3)		large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCTTTCATGCAT	0.418000													4	123					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:122669084C>T	uc009zxm.3	+	1	194	c.169C>T	c.(169-171)Cct>Tct	p.P57S	LRRC43_uc001ubw.4_5'UTR|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	57								p.P57S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCGCTTTCTTCCTCAAACTTG	0.562000													3	33					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:101450746A>T	uc003dvk.1	+	4	537	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_uc010hpm.1_Missense_Mutation_p.R136S|CEP97_uc011bhf.1_Missense_Mutation_p.R170S|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.R8S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	170						centrosome|nucleus	protein binding	p.R170S(3)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTACCCAGAAGTCTTGCTA	0.373000													7	140					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:47763181C>T	uc003ozc.3	+	3	666	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_uc003ozd.3_Missense_Mutation_p.A48V	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	213					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A213V(2)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542000													32	80					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58579352	58579352	+	Silent	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:58579352C>A	uc002env.3	-	29	4343	c.4050G>T	c.(4048-4050)acG>acT	p.T1350T	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.T1345T|CNOT1_uc002enx.3_Silent_p.T1350T|CNOT1_uc010vik.2_Silent_p.T307T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1350	Thr-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTGGTGGAACCGTGGCTGTAC	0.403000													3	82					0	0	1	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128503029	128503029	+	Missense_Mutation	SNP	G	G	A	rs10958		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:128503029G>A	uc022all.1	+	0	173	c.71G>A	c.(70-72)gGc>gAc	p.G24D	KCP_uc003vob.1_Non-coding_Transcript|ATP6V1F_uc003voc.2_Missense_Mutation_p.G24D	NM_001198909	NP_001185838	Q16864	VATF_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA.	24			G -> V (in dbSNP:rs10958).		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	p.G24D(2)		lung(1)|ovary(1)|prostate(1)	3						CTGCTGGGCGGCATAGGGGAG	0.582000											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	99					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44185094	44185094	+	Splice_Site	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:44185094A>G	uc003tkl.2	-	9	1723	c.1253_splice	c.e9+1	p.S418_splice	GCK_uc003tkj.1_Splice_Site_p.S417_splice|GCK_uc003tkk.1_Splice_Site_p.S419_splice	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	418					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.?(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGCGGGCTCACCTGGGGTGC	0.627000													3	9					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:27844648A>C	uc002hdz.2	+	15	2076	c.1882A>C	c.(1882-1884)Aac>Cac	p.N628H	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	628					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.N628H(3)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGGCGTCATAACTTAGAGCA	0.393000													28	97					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586756	53586756	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:53586756C>A	uc003xre.4	-	6	1209	c.651G>T	c.(649-651)ttG>ttT	p.L217F	RB1CC1_uc003xrf.4_Missense_Mutation_p.L217F	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	217					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CCAGTCTTCCCAAACATTCTC	0.403000													4	157					0	0	1	0	0
HTR7P1	93164	broad.mit.edu	37	12	13155157	13155157	+	RNA	SNP	T	T	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:13155157T>G	uc010shq.2	+	0		c.1782T>G			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.									p.S537A(1)									CACGATTTACTCCACCGCAGT	0.478000													3	13					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6058267	6058267	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:6058267G>T	uc001qnn.1	-	51	8606	c.8356C>A	c.(8356-8358)Ctg>Atg	p.L2786M	ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2786	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTGCAGTGCAGGGCCACCTGC	0.567000													3	33					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117052373	117052373	+	Silent	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:117052373A>G	uc011lxl.2	+	45	4242	c.4242A>G	c.(4240-4242)ccA>ccG	p.P1414P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1414	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1414P(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGGGCCCCAGGCCGGAGGG	0.642000													3	89					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr21:45400973C>A	uc002zdx.3	+	9	1873	c.1208C>A	c.(1207-1209)aCc>aAc	p.T403N	AGPAT3_uc002zdv.3_Missense_Mutation_p.T316N|AGPAT3_uc002zdw.3_Missense_Mutation_p.T316N|AGPAT3_uc002zdy.3_Missense_Mutation_p.T254N	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	316					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.T316N(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGGGCCACCATTCTCCTG	0.552000													4	121					0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:54692085A>C	uc002qdq.3	-	3	458	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_uc010erg.3_5'Flank|MBOAT7_uc010yem.2_Missense_Mutation_p.I46M|MBOAT7_uc002qdr.3_Missense_Mutation_p.I64M|MBOAT7_uc002qds.3_Missense_Mutation_p.S34A|MBOAT7_uc010yen.2_Missense_Mutation_p.S34A|MBOAT7_uc002qdt.4_Missense_Mutation_p.I64M|TSEN34_uc002qdu.3_5'Flank|TSEN34_uc010yeo.2_5'Flank|TSEN34_uc002qdv.3_5'Flank	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	64					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.I64M(2)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGGCCTGAATGAGGGCCC	0.607000													3	97					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:158637764T>C	uc001fst.1	-	14	2121	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	641					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.Q641R(2)|p.I640T(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)					GCCAGTTTTCTGTATGTTTTC	0.468000													12	130					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20277328	20277328	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr13:20277328C>T	uc021rgx.1	-	9	1696	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding	p.R520H(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATATCTACGACGCTTATTAGG	0.433000													7	81					0	0	1	0	0
EOMES	8320	broad.mit.edu	37	3	27763406	27763408	+	In_Frame_Del	DEL	GCG	-	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:27763406_27763408delGCG	uc003cdy.3	-	0	378_380	c.378_380delCGC	c.(376-381)gccgcg>gcg	p.126_127AA>A	EOMES_uc003cdx.3_In_Frame_Del_p.126_127AA>A|EOMES_uc010hfn.2_In_Frame_Del_p.126_127AA>A|EOMES_uc011axc.1_Intron|EOMES_uc021wuq.1_Splice_Site	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	126	Ala-rich.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778													2	4	---	---	---	---					
UBR2	23304	broad.mit.edu	37	6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	-	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:42609419_42609427delCTAGTAAAC	uc011dur.2	+	16	2318_2326	c.2020_2028delCTAGTAAAC	c.(2020-2028)ctagtaaacdel	p.LVN674del	UBR2_uc011dus.2_In_Frame_Del_p.LVN319del|UBR2_uc010jxv.1_In_Frame_Del_p.LVN178del|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	674					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGTTCTCTCTAGTAAACCAGGTAAGTG	0.411													31	88	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	-	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:20824941_20824943delGCC	uc003suz.3	-	1	584_586	c.493_495delGGC	c.(493-495)ggcdel	p.G165del	SP8_uc003suy.3_In_Frame_Del_p.G147del|SP8_uc022aak.1_In_Frame_Del_p.G147del	NM_182700	NP_945194	Q8IXZ3	SP8_HUMAN	Homo sapiens Sp8 transcription factor (SP8), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													3	5	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:92146721delT	uc003uly.3	-	4	1204	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_uc011khr.2_Frame_Shift_Del_p.I162fs|PEX1_uc010ley.3_Frame_Shift_Del_p.I370fs|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													7	167	---	---	---	---					
