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
DBN1	1627	broad.mit.edu	37	5	176893991	176893991	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:176893991G>A	uc003mgx.2	-	7	916	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	DBN1_uc003mgy.2_Missense_Mutation_p.R210W|DBN1_uc010jkn.1_Missense_Mutation_p.R160W|DBN1_uc003mgz.1_Missense_Mutation_p.R147W	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	210					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTCCATCCGCTCCTGCTCG	0.667000													3	70					0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	332688	332688	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:332688G>A	uc002cgm.1	+	5	627	c.552G>A	c.(550-552)gaG>gaA	p.E184E	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'UTR|PDIA2_uc010bqt.1_5'UTR	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.	184					Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTCCGGTGGAGGAAGCGCCGA	0.642000													3	36					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901566	37901566	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:37901566C>T	uc021twu.1	+	9	1286	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	GRB7_uc002hsr.3_Missense_Mutation_p.S361F|GRB7_uc002hss.3_Missense_Mutation_p.S361F|GRB7_uc010cwc.3_Missense_Mutation_p.S361F|GRB7_uc002hst.3_Missense_Mutation_p.S361F	NM_001242442	NP_001229371	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 4, mRNA.	361					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGTTTGGGCTCCCCACCCTTG	0.592000													21	90					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50315381	50315381	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:50315381C>T	uc010hal.2	+	4	699	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CRELD2_uc003biz.3_Silent_p.L188L|CRELD2_uc010haj.3_Silent_p.L188L|CRELD2_uc003bja.2_Silent_p.L188L|CRELD2_uc010hak.2_Silent_p.L188L|CRELD2_uc010ham.2_Silent_p.L188L	NM_001135101	NP_001128573	Q6UXH1	CREL2_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA.	188						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TCAGCTCGCTCCGGAACGAGA	0.677000													6	177					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839566	27839566	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:27839566A>G	uc004dbw.3	+	2	388	c.143A>G	c.(142-144)gAt>gGt	p.D48G	MAGEB10_uc022bud.1_Missense_Mutation_p.D48G	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	48										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGTTTGAAGGATGTTTTCCAG	0.522000													13	30					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150936158	150936158	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:150936158G>A	uc001evu.2	+	19	3800	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K	SETDB1_uc001evv.2_Missense_Mutation_p.E1204K|SETDB1_uc009wmg.2_Missense_Mutation_p.E1204K	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	1204	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATGATGGCGAGGAGTCTTG	0.517000													129	148					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43269731	43269731	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:43269731C>T	uc002ouo.2	-	0	101	c.3G>A	c.(1-3)atG>atA	p.M1I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.M1I|PSG8_uc010ein.3_Missense_Mutation_p.M1I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	1						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AGAGGAGCCCCATGGTCTCTG	0.597000													34	52					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50215184	50215184	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:50215184G>A	uc010eng.3	+	16	2301	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	CPT1C_uc002ppl.4_3'UTR|CPT1C_uc002ppi.3_Missense_Mutation_p.R579Q|CPT1C_uc002ppk.3_Missense_Mutation_p.R651Q|CPT1C_uc010enh.3_Missense_Mutation_p.R662Q|CPT1C_uc002ppj.3_Missense_Mutation_p.R662Q|CPT1C_uc010ybc.1_3'UTR|CPT1C_uc010eni.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	662					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATCGTGTCCCGATTCCTCCAC	0.607000													24	104					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10106529	10106529	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr3:10106529G>A	uc003buw.3	+	22	2216	c.2138G>A	c.(2137-2139)gGt>gAt	p.G713D	FANCD2_uc003bux.1_Missense_Mutation_p.G713D|FANCD2_uc003buy.1_Missense_Mutation_p.G713D|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	713					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGATGGGGGTCCGGTGACC	0.463000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	243					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33582119	33582119	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:33582119C>T	uc002xbi.2	+	26	3058	c.2741C>T	c.(2740-2742)gCg>gTg	p.A914V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	872						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCGCTGGCTGCGGCCGAGGCC	0.672000													3	66					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118771054	118771054	+	Missense_Mutation	SNP	A	A	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:118771054A>C	uc011mtw.1	-	7	1055	c.982T>G	c.(982-984)Tat>Gat	p.Y328D	SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Missense_Mutation_p.Y298D|SEPT6_uc004ert.3_Missense_Mutation_p.Y298D|SEPT6_uc004eru.3_Missense_Mutation_p.Y298D|SEPT6_uc004erv.3_Missense_Mutation_p.Y298D|SEPT6_uc004erw.3_Missense_Mutation_p.Y240D|SEPT6_uc011mtv.1_Missense_Mutation_p.Y240D	NM_145800	NP_665799	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant III, mRNA.	298					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.R328R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CAGCGGCGATACAGCTCATAG	0.612000			T	MLL	AML								50	137					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19955323	19955323	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:19955323G>A	uc010rdm.2	+	7	1963	c.1602G>A	c.(1600-1602)acG>acA	p.T534T	NAV2_uc001mpp.3_Silent_p.T447T|NAV2_uc001mpr.4_Silent_p.T511T|NAV2_uc021qew.1_Silent_p.T511T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	534						nucleus	ATP binding|helicase activity	p.T534T(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTCTGTGACGGAGAGGCTGG	0.517000													3	102					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105165806	105165806	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr10:105165806G>A	uc001kwy.1	+	5	716	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	210	S1 motif 2.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTGTTGATGGGACCAGAGCT	0.512000													3	176					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679691	160679691	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:160679691G>A	uc003qtf.3	-	0	273	c.99C>T	c.(97-99)ttC>ttT	p.F33F	SLC22A2_uc003qth.2_Silent_p.F33F	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	33					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGATGGGCGCGAAGGTAGCCG	0.612000													33	71					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436640	16436640	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:16436640C>T	uc003zml.3	-	5	1692	c.1552G>A	c.(1552-1554)Gcc>Acc	p.A518T	BNC2_uc011lmw.2_Missense_Mutation_p.A423T|BNC2_uc003zmm.3_Missense_Mutation_p.A476T|BNC2_uc003zmq.1_Missense_Mutation_p.A532T|BNC2_uc003zmr.1_Missense_Mutation_p.A555T|BNC2_uc003zmp.1_Missense_Mutation_p.A546T|BNC2_uc010mij.1_Missense_Mutation_p.A440T|BNC2_uc011lmv.2_Missense_Mutation_p.A344T|BNC2_uc003zmo.1_Missense_Mutation_p.A440T|BNC2_uc003zmj.3_Missense_Mutation_p.A283T|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.A283T|BNC2_uc003zmn.1_Missense_Mutation_p.A283T	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACAGGGGTGGCAGCTCCTGAG	0.512000													49	102					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650393	55650393	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:55650393C>T	uc004duo.3	+	0	561	c.249C>T	c.(247-249)gaC>gaT	p.D83D		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	83					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTGGGTGGACCCCAATATCC	0.552000													32	50					0	0	1	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830608	43830608	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:43830608C>G	uc001cjb.3	-	3	437	c.309G>C	c.(307-309)gaG>gaC	p.E103D	ELOVL1_uc001cjc.3_Non-coding_Transcript|ELOVL1_uc010okh.2_Intron	NM_022821	NP_073732	Q9BW60	ELOV1_HUMAN	Homo sapiens ELOVL fatty acid elongase 1 (ELOVL1), transcript variant 1, mRNA.	103					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTAAGTGCCTCAGGGCTGT	0.557000													15	30					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57889901	57889901	+	Missense_Mutation	SNP	T	T	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:57889901T>G	uc003hcl.1	+	19	2883	c.2840T>G	c.(2839-2841)aTt>aGt	p.I947S	POLR2B_uc011cae.1_Missense_Mutation_p.I940S|POLR2B_uc011caf.1_Missense_Mutation_p.I872S|POLR2B_uc003hcm.1_Missense_Mutation_p.I440S	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	947					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ACTTGTGGTATTCAGTATAGA	0.333000													60	98					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978313	71978313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr12:71978313G>A	uc001swl.3	+	17	2571	c.2523G>A	c.(2521-2523)tgG>tgA	p.W841*	LGR5_uc001swm.3_Nonsense_Mutation_p.W817*|LGR5_uc021rar.1_Nonsense_Mutation_p.W769*|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	841						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTACGTCTGGACAAGATCAA	0.448000													25	51					0	0	1	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007755	32007755	+	Missense_Mutation	SNP	G	G	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr21:32007755G>T	uc011adg.2	+	0	173	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	58						intermediate filament		p.R58T(2)|p.G57G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGCTATGGAAGATACTGGTCC	0.507000													8	192					0	0	1	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34842567	34842567	+	Silent	SNP	C	C	T	rs139241535	byFrequency	TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34842567C>T	uc002hms.1	+	0	95	c.24C>T	c.(22-24)acC>acT	p.T8T	ZNHIT3_uc010cus.1_Silent_p.T8T|ZNHIT3_uc002hmt.1_Non-coding_Transcript|ZNHIT3_uc010cut.1_Non-coding_Transcript	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.	8					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding	p.S7I(1)		lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		AATGTAGCACCGTCGTCTGCG	0.657000													11	401					0	0	1	0	0
NUDT17	200035	broad.mit.edu	37	1	145588735	145588735	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:145588735G>A	uc001eof.1	-	0	1727	c.693C>T	c.(691-693)ctC>ctT	p.L231L	NUDT17_uc001eoe.3_Intron			P0C025	NUD17_HUMAN	Homo sapiens cDNA FLJ34433 fis, clone HLUNG2000926.	0	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACACAGAgggagttgcagtc	0.537000											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102781357	102781357	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:102781357G>A	uc002tbq.3	+	3	503	c.185G>A	c.(184-186)aGc>aAc	p.S62N	IL1R1_uc010fix.3_Missense_Mutation_p.S62N|IL1R1_uc002tbr.3_Missense_Mutation_p.S62N	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	62	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AAAGATGACAGCAAGACACCT	0.383000													3	92					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130416966	130416966	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:130416966T>A	uc004ewe.4	-	5	1223	c.940A>T	c.(940-942)Atc>Ttc	p.I314F	IGSF1_uc004ewd.3_Missense_Mutation_p.I314F|IGSF1_uc022cdv.1_Missense_Mutation_p.I305F|IGSF1_uc004ewf.2_Missense_Mutation_p.I294F	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	314					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCACCCAGATTTTCAGGACA	0.433000													49	89					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118556676	118556676	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:118556676C>A	uc010jcl.1	+	36	8358	c.8177C>A	c.(8176-8178)aCa>aAa	p.T2726K	DMXL1_uc003ksd.2_Missense_Mutation_p.T2705K|DMXL1_uc021ycw.1_Missense_Mutation_p.T2532K	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2705										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GATGATTTAACAGCTGTTCAA	0.388000													3	100					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925361	67925361	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67925361A>G	uc001onm.1	-	10	2708	c.2452T>C	c.(2452-2454)Tat>Cat	p.Y818H	SUV420H1_uc009yse.1_Missense_Mutation_p.Y404H|SUV420H1_uc001onn.1_Missense_Mutation_p.Y646H|SUV420H1_uc009ysf.2_Missense_Mutation_p.Y578H	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACTGACTATAGTCATCCACC	0.448000													62	106					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61947922	61947922	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:61947922G>A	uc011aau.2	+	20	2642	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	COL20A1_uc011aav.2_Missense_Mutation_p.A669T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	848	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGATGGTGGCCTTCAGCCT	0.652000													7	10					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34870998	34870998	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr17:34870998T>A	uc010wcy.2	-	8	1567	c.575A>T	c.(574-576)aAc>aTc	p.N192I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.N192I|MYO19_uc010wcz.1_Intron|MYO19_uc010wda.1_Missense_Mutation_p.N58I|MYO19_uc002hmx.2_Missense_Mutation_p.N192I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	192	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGACTGCTGTTGTTATTCCT	0.517000													10	34					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801992	185801992	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:185801992G>C	uc002uph.3	+	3	2463	c.1869G>C	c.(1867-1869)gaG>gaC	p.E623D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	623						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGAAGCAGAGAATAGTTACA	0.338000													5	262					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572532	53572532	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:53572532G>A	uc010eqk.3	-	6	1671	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	ZNF160_uc002qaq.4_Missense_Mutation_p.H419Y|ZNF160_uc002qar.4_Missense_Mutation_p.H419Y	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	419					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTGTGGATTGTCTGA	0.428000													5	196					0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25175977	25175977	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:25175977G>A	uc002dnx.1	+	6	786	c.628G>A	c.(628-630)Gca>Aca	p.A210T	LCMT1_uc002dny.1_Missense_Mutation_p.A155T	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	210							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AGAGCAGTCCGCAAACCTCCT	0.428000													3	131					0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100364973	100364973	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:100364973G>A	uc004axn.3	-	9	1817	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	TSTD2_uc004axo.3_Silent_p.T217T	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	443										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGGCAGGGCAGGTCAAAACGA	0.527000													3	126					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8605771	8605771	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr4:8605771T>A	uc003glm.3	+	3	739	c.565T>A	c.(565-567)Tcc>Acc	p.S189T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.S178T|CPZ_uc003gln.3_Missense_Mutation_p.S52T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	189					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGCCACCACTCCTACGCCCA	0.697000													5	67					0	0	1	0	0
C16orf11	146325	broad.mit.edu	37	16	613508	613508	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:613508C>G	uc002chk.3	+	1	493	c.214C>G	c.(214-216)Cca>Gca	p.P72A		NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	72										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						GCTAGACTCCCCAGACTGGGC	0.662000													15	35					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47281988	47281988	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:47281988G>A	uc002pfs.3	-	4	1622	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y	SLC1A5_uc010xyh.2_Silent_p.Y132Y|SLC1A5_uc002pfq.3_Silent_p.Y158Y|SLC1A5_uc002pfr.3_Silent_p.Y106Y	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	334					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	ACAGGAAGCGGTAGGGGTTTT	0.597000													3	63					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67012703	67012703	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:67012703C>T	uc001ojw.3	+	13	2471	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.P230L|KDM2A_uc010rpn.2_Missense_Mutation_p.P97L|KDM2A_uc001ojz.1_5'UTR	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CCTACCATCCCCATTACGAAG	0.527000													109	203					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44432018	44432018	+	Splice_Site	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:44432018G>A	uc002xpk.3	+	8	671	c.603_splice	c.e8+1	p.K201_splice		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	201						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGCCCCAAGGTATGATTATG	0.507000													15	47					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120436924	120436924	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:120436924C>A	uc001eij.3	-	0	2224	c.2036G>T	c.(2035-2037)aGa>aTa	p.R679I		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	679					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATCGCCCCTCTGAGCAGTCC	0.468000													3	98					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228348	111228348	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:111228348G>A	uc001plg.4	-	3	533	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	93					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CAGGGTGGCCGGGGTGGGCTG	0.627000			T	BCL6	NHL								3	68					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424816	69424816	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:69424816C>A	uc004dxx.1	+	6	971	c.874C>A	c.(874-876)Cca>Aca	p.P292T		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	292					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGAACCCCTTCCAATTCCCAG	0.463000													7	21					0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66525624	66525624	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:66525624T>C	uc003xvl.3	-	3	575	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	ARMC1_uc011leo.2_Intron	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	107					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGAATGTCATAGATTTCAGA	0.348000													52	77					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159178397	159178397	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:159178397A>G	uc003qrp.3	+	14	1691	c.1292A>G	c.(1291-1293)cAt>cGt	p.H431R	SYTL3_uc003qrr.3_Missense_Mutation_p.H431R|SYTL3_uc003qro.3_Missense_Mutation_p.H363R|SYTL3_uc003qrs.3_Missense_Mutation_p.H363R|SYTL3_uc011efq.2_Missense_Mutation_p.H157R	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	431					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTCCGCTGGCATCCGCTCCGG	0.527000													18	83					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236729279	236729279	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:236729279G>C	uc001hyd.2	-	30	4527	c.4375C>G	c.(4375-4377)Cag>Gag	p.Q1459E	HEATR1_uc009xgh.2_Missense_Mutation_p.Q621E	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1459					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGTATCTGATGCTGGACA	0.378000													34	58					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69726422	69726422	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr16:69726422G>A	uc002exl.2	+	12	3030	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	NFAT5_uc002exj.2_Silent_p.Q804Q|NFAT5_uc002exk.2_Silent_p.Q804Q|NFAT5_uc002exn.2_Silent_p.Q897Q|NFAT5_uc002exm.2_Silent_p.Q880Q|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Silent_p.Q804Q	NM_138713	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.	880					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTAATcaacagcagcagcagc	0.478000													3	63					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36045884	36045884	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:36045884G>A	uc002oal.1	-	15	2450	c.2421C>T	c.(2419-2421)gtC>gtT	p.V807V	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	807					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGGGCACGCTGACGGTGATGT	0.547000													47	59					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:2129435T>C	uc002lva.3	-	6	837	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_uc002luy.3_Intron|AP3D1_uc002luz.3_Missense_Mutation_p.N205S	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	205					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGATGACATTGACGGCAGC	0.577000													11	82					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62494174	62494174	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr11:62494174C>T	uc001nuw.3	-	0	684	c.455G>A	c.(454-456)aGg>aAg	p.R152K	HNRNPUL2_uc001nuu.2_Non-coding_Transcript|TTC9C_uc001nux.3_5'Flank|TTC9C_uc001nuy.3_5'Flank	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	152	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTCTTCCTCCCTCTTGCCGAG	0.706000													17	34					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38749066	38749066	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:38749066C>T	uc021yzh.1	+	15	2285	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	DNAH8_uc003ooe.2_Missense_Mutation_p.R509C	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCTCTTGCTCGCAACATGCC	0.383000													50	108					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155307970	155307970	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:155307970T>C	uc009wqq.3	-	26	9208	c.8728A>G	c.(8728-8730)Acc>Gcc	p.T2910A	ASH1L_uc001fkt.3_Missense_Mutation_p.T2905A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2910					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGGGTACAGGTTGACTGGGGT	0.488000													34	89					0	0	1	0	0
FUT10	84750	broad.mit.edu	37	8	33247184	33247184	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr8:33247184G>A	uc011lbi.2	-	3	825	c.659C>T	c.(658-660)aCt>aTt	p.T220I	FUT10_uc003xjc.3_Missense_Mutation_p.T177I|FUT10_uc003xjd.3_Missense_Mutation_p.T142I|FUT10_uc003xje.3_Missense_Mutation_p.T170I|FUT10_uc003xjf.3_Missense_Mutation_p.T108I|FUT10_uc003xjg.3_Missense_Mutation_p.T142I|FUT10_uc003xjh.3_Missense_Mutation_p.T170I			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	170					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.D220N(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GAACGTGGCAGTGTAGTTGAA	0.463000													3	154					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215193	32215193	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:32215193A>G	uc011alu.2	+	21	2054	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	DEPDC5_uc011als.2_Missense_Mutation_p.M618V|DEPDC5_uc003als.3_Missense_Mutation_p.M618V|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.M618V|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.M58V|DEPDC5_uc011alt.2_Missense_Mutation_p.M590V	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	618					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAGGCGCTGGATGCACACTTT	0.557000													26	100					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065420	9065420	+	Silent	SNP	T	T	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:9065420T>G	uc002mkp.3	-	2	22230	c.22026A>C	c.(22024-22026)acA>acC	p.T7342T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7344	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCTAATGTAAAGGTAC	0.458000													33	57					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842269	8842269	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8842269G>A	uc010xkg.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGTCTGAGGAATCCGGAGG	0.522000													5	119					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275908	152275908	+	Silent	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:152275908C>T	uc001ezu.1	-	2	11490	c.11454G>A	c.(11452-11454)caG>caA	p.Q3818Q		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3818	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTCCTGACTGTTCCTCAT	0.582000									Ichthyosis				5	611					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528133	157528133	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr6:157528133G>A	uc003qqn.3	+	19	5978	c.5978G>A	c.(5977-5979)cGt>cAt	p.R1993H	ARID1B_uc003qqo.3_Missense_Mutation_p.R1953H|ARID1B_uc003qqp.3_Missense_Mutation_p.R1940H	NM_020732	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 2, mRNA.	1940					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.R1935H(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AATATTGTCCGTAGCTTGTCA	0.557000													5	263					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428474	57428474	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:57428474G>A	uc002xzw.3	+	0	439	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GATGGAGACCGAACCGCCTCA	0.652000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			2	6					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945177	227945177	+	Silent	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr2:227945177T>C	uc021vxr.1	-	22	1886	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	COL4A4_uc021vxs.1_Silent_p.K595K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	595	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGATCCCCTTTTTCTCCAG	0.463000													3	221					0	0	1	0	0
SNAPC5	10302	broad.mit.edu	37	15	66782756	66782756	+	Silent	SNP	T	T	C			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr15:66782756T>C	uc002apt.1	-	1	367	c.327A>G	c.(325-327)tcA>tcG	p.S109S	MAP2K1_uc010bhq.3_Intron|MAP2K1_uc010ujp.2_Intron|SNAPC5_uc002apu.1_3'UTR			O75971	SNPC5_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 5, 19kDa (SNAPC5), mRNA.	16					transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)	2						GCTCTAGACCTGAAACTCTTG	0.493000													11	19					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	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				52	83					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074413	8074413	+	Silent	SNP	T	T	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr1:8074413T>A	uc001aoz.3	-	3	495	c.246A>T	c.(244-246)gcA>gcT	p.A82A	ERRFI1_uc001apa.1_Silent_p.A7A	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	82					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GACCATTTTCTGCAAAGCAGT	0.443000													4	256					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337082	115337082	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr9:115337082A>G	uc011lwx.1	+	1	897	c.722A>G	c.(721-723)cAc>cGc	p.H241R	KIAA1958_uc004bgf.1_Missense_Mutation_p.H241R	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	241										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCAGACTCACGCTGGTCCC	0.532000													50	132					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675022	3675022	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr20:3675022G>A	uc002wja.3	-	11	3102	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P	SIGLEC1_uc002wiz.4_Silent_p.P1034P|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1034	Ig-like C2-type 10.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCTGCCTTCGGGTCCCCCCA	0.652000													39	92					0	0	1	0	0
MRPL4	51073	broad.mit.edu	37	19	10369175	10369175	+	Silent	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:10369175G>A	uc002mnm.3	+	7	793	c.639G>A	c.(637-639)ggG>ggA	p.G213G	MRPL4_uc002mnn.3_Silent_p.G213G|MRPL4_uc002mno.3_Silent_p.G213G	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	Homo sapiens mitochondrial ribosomal protein L4 (MRPL4), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	213					translation	mitochondrion|ribosome	structural constituent of ribosome	p.G213G(2)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GCCGCTGGGGGGACTCCGTAC	0.647000													3	124					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8146248	8146248	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr19:8146248A>G	uc002mjf.3	-	56	7347	c.7330T>C	c.(7330-7332)Tgc>Cgc	p.C2444R	FBN3_uc002mje.3_Missense_Mutation_p.C283R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2444	EGF-like 39; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCACCTTTGCAGGTCCTGCCA	0.587000													3	54					0	0	1	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698774	111698774	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chrX:111698774G>A	uc004epo.1	+	2	1259	c.818G>A	c.(817-819)cGc>cAc	p.R273H	ZCCHC16_uc022cct.1_Missense_Mutation_p.R273H	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	273							nucleic acid binding|zinc ion binding	p.A272A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAACGAGCCCGCCAGCAAGAA	0.552000													4	161					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139216458	139216458	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr5:139216458C>T	uc003leu.1	+	9	1671	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	489					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGGCACGAAGAAGGTG	0.592000													6	201					0	0	1	0	0
RRP7B	91695	broad.mit.edu	37	22	42976253	42976253	+	RNA	DEL	A	A	-			TCGA-IM-A3U2-01A-21D-A22D-08	TCGA-IM-A3U2-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40050969-977d-42b9-beb8-80e2363e9b36	3f186011-5639-4841-bdae-0ff04f6158b5	g.chr22:42976253delA	uc003bcs.3	-	1		c.196delT			RRP7B_uc003bct.3_Non-coding_Transcript					Homo sapiens ribosomal RNA processing 7 homolog B (S. cerevisiae) (RRP7B), non-coding RNA.																		CATTGAAGACAAAAAGAGTCC	0.557													9	9	---	---	---	---