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
CUBN	8029	broad.mit.edu	37	10	16882377	16882377	+	Silent	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:16882377G>C	uc001ioo.3	-	61	10036	c.9984C>G	c.(9982-9984)acC>acG	p.T3328T		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3328	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTCTTGCGAGGTCAGCTGTA	0.463000													14	20					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33592874	33592874	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:33592874A>G	uc021wvc.1	-	29	3258	c.3047T>C	c.(3046-3048)aTc>aCc	p.I1016T	CLASP2_uc003cfs.3_Missense_Mutation_p.I215T|CLASP2_uc021wva.1_Missense_Mutation_p.I90T|CLASP2_uc021wvb.1_Missense_Mutation_p.I795T|CLASP2_uc011axt.1_Missense_Mutation_p.I608T	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1017										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTATTTAAGGATAGCAACCTT	0.408000													4	30					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40262802	40262802	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:40262802G>A	uc002hyw.3	-	4	723	c.500C>T	c.(499-501)aCa>aTa	p.T167I	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.T160I	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	167	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGGAGGCTGTGAGACCCAG	0.627000													4	78					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414834	68414834	+	RNA	SNP	C	C	T	rs78568682		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:68414834C>T	uc004aex.3	+	0		c.1389C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		gaggctgaggcagaagaatgg	0.473000													4	6					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207569605	207569605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:207569605G>A	uc002vbr.1	-	4	562	c.445C>T	c.(445-447)Cga>Tga	p.R149*		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	149						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AAAACCCTTCGAGTCATGCGT	0.358000													17	11					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220936325	220936325	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:220936325A>G	uc001hmq.3	+	3	881	c.683A>G	c.(682-684)gAg>gGg	p.E228G	MARC2_uc001hmr.3_Missense_Mutation_p.E228G|MARC2_uc009xdx.3_Missense_Mutation_p.E228G	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	228	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										ACCAGGATGGAGAAGAAAATG	0.493000													29	53					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933333	150933333	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:150933333G>A	uc001evu.2	+	15	2985	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SETDB1_uc001evv.2_Missense_Mutation_p.R932Q|SETDB1_uc009wmg.2_Missense_Mutation_p.R932Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	932	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)			AGGCAGACCCGGGGCCAGAAA	0.532000													41	65					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64404543	64404543	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:64404543C>G	uc003pep.1	+	4	2594	c.2569C>G	c.(2569-2571)Cgt>Ggt	p.R857G	PHF3_uc010kaf.1_Missense_Mutation_p.R857G|PHF3_uc003pem.2_Missense_Mutation_p.R810G|PHF3_uc010kag.1_Missense_Mutation_p.R769G|PHF3_uc010kah.1_Missense_Mutation_p.R671G|PHF3_uc003pen.2_Missense_Mutation_p.R769G|PHF3_uc011dxs.1_Missense_Mutation_p.R126G	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	857					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCTCCTCTTCGTAAGATGGG	0.383000													4	154					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65242163	65242163	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:65242163A>G	uc004dwh.2	-	7	1269	c.1142T>C	c.(1141-1143)cTg>cCg	p.L381P	VSIG4_uc004dwi.2_Missense_Mutation_p.L287P|VSIG4_uc004dwj.3_3'UTR|VSIG4_uc011moy.2_3'UTR	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	381					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGTGTCCAGCAGGCGGGC	0.507000													14	59					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179332847	179332847	+	Splice_Site	SNP	G	G	A	rs11539675		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:179332847G>A	uc003fkc.3	+	2	242	c.213_splice	c.e2+1	p.L71_splice	NDUFB5_uc021xhu.1_Splice_Site_p.L71_splice|NDUFB5_uc003fke.3_Intron|NDUFB5_uc003fkd.3_Splice_Site	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	71					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TGAAGTTATTGGTAAGTTTAA	0.318000													15	40					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38811527	38811527	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:38811527C>T	uc001zke.4	-	3	550	c.372G>A	c.(370-372)aaG>aaA	p.K124K	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_5'UTR|RASGRP1_uc010bbg.3_5'UTR|RASGRP1_uc001zkd.4_Silent_p.K124K	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	124	N-terminal Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AATAACAGATCTTCAGGCAAA	0.413000													27	32					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624411	32624411	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr21:32624411G>C	uc002yow.1	-	5	1530	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	TIAM1_uc011adk.1_Missense_Mutation_p.T353S|TIAM1_uc011adl.1_Missense_Mutation_p.T353S|TIAM1_uc002yox.1_5'UTR	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	353					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTGGAGTTGGTGGCATTAGA	0.622000													96	221					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235409	127235409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:127235409C>T	uc003vmd.2	+	1	412	c.193C>T	c.(193-195)Cga>Tga	p.R65*	FSCN3_uc003vmc.1_Nonsense_Mutation_p.R20*|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.2_Nonsense_Mutation_p.R65*	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	65						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGTGGTGCGACTAAAGAG	0.562000													27	75					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57512489	57512489	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:57512489T>C	uc003pdx.3	+	14	1401	c.1314T>C	c.(1312-1314)ttT>ttC	p.F438F		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	439					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ATTGTGGCTTTTCTTTGAATC	0.338000													8	121					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054351	76054351	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:76054351C>A	uc003ufd.4	+	0	80	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	ZP3_uc003ufc.4_Intron	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	24					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTACCCCCAACCCCTCTGGCT	0.602000													4	14					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56357765	56357765	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:56357765C>A	uc003pcy.4	-	64	12756	c.12648G>T	c.(12646-12648)ttG>ttT	p.L4216F	DST_uc003pda.4_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6628					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.L4216F(1)|p.L6630F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGACTGTGTCCAAGATGAGAC	0.398000													5	12					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48637920	48637920	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:48637920A>T	uc003cub.1	-	9	1253	c.1208T>A	c.(1207-1209)cTa>cAa	p.L403Q		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	403					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CTCACCATCTAGATGAGATAC	0.567000													20	1					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103400064	103400064	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:103400064C>T	uc001ymi.1	-	36	5353	c.5121G>A	c.(5119-5121)ccG>ccA	p.P1707P		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1707					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGTCACAGGCCGGCTGCTCCA	0.667000													3	4					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59004951	59004951	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:59004951C>T	uc001cyy.3	-	1	104	c.16G>A	c.(16-18)Gga>Aga	p.G6R	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.G6R|OMA1_uc009vzz.3_Missense_Mutation_p.G6R	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	6					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GACTGCAATCCACAGATGAAG	0.363000													12	25					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:4228226G>A	uc003ghp.1	-	0	396	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(4)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													3	22					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89620289	89620289	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:89620289C>T	uc002fnj.3	+	14	2045	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F	SPG7_uc002fnl.3_Missense_Mutation_p.S84F	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	675					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGGCCCATCTCCTTCCCTGAG	0.662000													42	48					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1232004	1232004	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:1232004G>A	uc003gcw.3	-	1	327	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CTBP1_uc003gcu.1_Silent_p.C43C|CTBP1_uc003gcv.1_Silent_p.C54C|CTBP1_uc003gcx.1_Silent_p.C43C	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	54	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ACTGCGCGTCGCAGAAGGCCA	0.672000													4	125					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594664	179594664	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:179594664G>C	uc021vsy.1	-	59	14809	c.14584C>G	c.(14584-14586)Caa>Gaa	p.Q4862E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q1523E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5789	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G4862R(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)			TTAATGAATTGAGGAGGTTCT	0.438000													9	18					0	0	1	0	0
BC012753	0	broad.mit.edu	37	GL000214.1	30761	30761	+	RNA	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrGL000214.1:30761G>T	uc011mfm.2	+	0		c.381G>T								Homo sapiens cDNA clone IMAGE:3625232, partial cds.																		ATGTGTCCCGGTGCTAACACA	0.572000													3	2					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414292	68414292	+	RNA	SNP	G	G	A	rs142049020		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:68414292G>A	uc004aex.3	+	0		c.847G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		agacttgcaagtctctcactt	0.438000													4	26					0	0	1	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250542	26250542	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:26250542C>G	uc003nhg.1	-	0	294	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	HIST1H2BH_uc003nhh.3_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	98					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.E98K(2)		lung(6)|urinary_tract(1)	7						AGGTAAGCCTCGCAGGCCTCC	0.602000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	18					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11871427	11871427	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:11871427G>A	uc021zzo.1	-	0	398	c.146C>T	c.(145-147)gCg>gTg	p.A49V	THSD7A_uc021zzn.1_Missense_Mutation_p.A49V	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	49						integral to membrane		p.A49V(2)|p.A49S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCGCCCTGCGCCGCAGCCCT	0.706000										HNSCC(18;0.044)			10	9					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44952563	44952563	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:44952563C>G	uc002ikw.1	+	2	468	c.431C>G	c.(430-432)aCc>aGc	p.T144S	WNT9B_uc002ikx.1_Missense_Mutation_p.T144S	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	144					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGCGCTGCACCTGTGATGAC	0.647000													118	9					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18775890	18775890	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:18775890T>C	uc003zne.4	+	17	2699	c.2547T>C	c.(2545-2547)tgT>tgC	p.C849C		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	849	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			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)		TGGCAACCTGTGCAAGTAAGT	0.557000													11	12					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71509657	71509657	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:71509657T>C	uc010cgc.1	-	5	1299	c.793A>G	c.(793-795)Aga>Gga	p.R265G	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.R253G|ZNF19_uc002fal.1_Missense_Mutation_p.R253G|ZNF19_uc002fam.1_Missense_Mutation_p.R265G	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GTGTGGATTCTCTGATGTATA	0.453000													31	43					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933030	43933030	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:43933030C>T	uc002xnn.2	-	2	668	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MATN4_uc002xnp.2_Missense_Mutation_p.A161T|MATN4_uc002xno.2_Missense_Mutation_p.A161T|MATN4_uc010zwr.1_Missense_Mutation_p.A109T|MATN4_uc002xnr.1_Missense_Mutation_p.A161T|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	161	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGGGCGCGCGCCTGTGCCGCC	0.741000													21	203					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109765634	109765634	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:109765634G>A	uc004bcz.3	+	10	7405	c.7116G>A	c.(7114-7116)aaG>aaA	p.K2372K	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.K2281K|ZNF462_uc004bda.3_Silent_p.K2280K|ZNF462_uc011lvz.2_Silent_p.K329K|AK097706_uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2372					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGATGAAGGAGAAAATGG	0.473000													5	102					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935256	30935256	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:30935256G>C	uc002nsu.1	+	1	925	c.787G>C	c.(787-789)Gtg>Ctg	p.V263L	ZNF536_uc010edd.1_Missense_Mutation_p.V263L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTGCCAGCGTGCAGGAGGA	0.711000													6	124					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293880	29293880	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:29293880G>A	uc002rmt.2	-	0	3248	c.3248C>T	c.(3247-3249)cCt>cTt	p.P1083L		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1083	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AATCGAGAAAGGGGGGCTTGC	0.602000													44	96					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr22:18846006A>G	uc002zoe.3	+	4		c.2368A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCGCAGGCCGACACTCACTGA	0.617000													4	96					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221848	55221848	+	RNA	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:55221848A>G	uc002qgs.1	+	0		c.2248A>G			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		TCAGCTCAGAACGAGGTGGGG	0.637000													3	51					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624069	175624069	+	Missense_Mutation	SNP	C	C	A	rs147488907	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:175624069C>A	uc002ujd.2	-	2	302	c.224G>T	c.(223-225)cGt>cTt	p.R75L	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.R75L|CHRNA1_uc002ujf.4_Missense_Mutation_p.R75L	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	75					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CTGTTTCAGACGCACATTGGT	0.443000													7	71					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55331226	55331226	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:55331226G>C	uc002qhl.4	+	3	477	c.414G>C	c.(412-414)gaG>gaC	p.E138D	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.E138D|KIR3DL2_uc010esf.3_Missense_Mutation_p.E43D|KIR3DL2_uc021vbo.1_Missense_Mutation_p.E138D|KIR3DL2_uc002qhk.4_Missense_Mutation_p.E138D			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	138	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AATCAGGAGAGAGAGTCATCC	0.488000													29	84					0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5338195	5338195	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:5338195C>T	uc002gby.1	-	2	553	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	Homo sapiens complement component 1, q subcomponent binding protein (C1QBP), nuclear gene encoding mitochondrial protein, mRNA.	159					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						TAGCTTACCTCCTGTTCTTCA	0.438000													4	43					0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100634935	100634935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr13:100634935C>A	uc001von.3	+	0	910	c.617C>A	c.(616-618)tCg>tAg	p.S206*		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	206	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACCCCTACTCGGCGGCGCAA	0.662000													11	101					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249510	153249510	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:153249510C>A	uc003ims.3	-	8	1430	c.1268G>T	c.(1267-1269)gGa>gTa	p.G423V	FBXW7_uc011cii.2_Missense_Mutation_p.G423V|FBXW7_uc003imt.3_Missense_Mutation_p.G423V|FBXW7_uc011cih.2_Missense_Mutation_p.G247V|FBXW7_uc003imq.3_Missense_Mutation_p.G343V|FBXW7_uc003imr.3_Missense_Mutation_p.G305V	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	423					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.G423V(13)|p.G343V(2)|p.G184V(2)|p.G305V(2)|p.?(1)|p.G423R(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGACCATACTCCACCTGTATG	0.373000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								47	61					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952119	178952119	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:178952119C>G	uc003fjk.3	+	20	3331	c.3174C>G	c.(3172-3174)atC>atG	p.I1058M		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1058	PI3K/PI4K.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.W1057*(2)|p.I1058F(2)|p.W1057R(1)|p.I1058L(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGGATTGGATCTTCCACACAA	0.398000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			32	47					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644265	37644265	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:37644265G>C	uc002ofo.1	-	4	767	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ZNF585A_uc002ofm.1_Missense_Mutation_p.T124S|ZNF585A_uc002ofn.1_Missense_Mutation_p.T124S	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCATATGGGTTTTCTGGTG	0.388000													23	105					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554604	44554604	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr18:44554604C>T	uc010xdb.2	-	0	1846	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTTGTAGTCTCGAATTGCCTT	0.602000													8	395					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400848	195400848	+	Silent	SNP	G	G	A	rs7635190	by1000genomes	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400848G>A	uc003fuw.3	+	8	1338	c.144G>A	c.(142-144)tcG>tcA	p.S48S	SDHAP2_uc011btb.1_Missense_Mutation_p.V196M|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		TCGCAGAGTCGTGCAGGCCTG	0.552000													4	47					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141800609	141800609	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:141800609A>G	uc003vwy.3	+	44	5248	c.5194A>G	c.(5194-5196)Aaa>Gaa	p.K1732E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1732	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCCGCCAGAAATTCATGGG	0.483000													5	6					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414257	68414257	+	RNA	SNP	G	G	A	rs147144293		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:68414257G>A	uc004aex.3	+	0		c.812G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		aaccacagtggcctcaaagaa	0.488000													3	22					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824467	54824467	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:54824467G>A	uc002xxb.2	+	0	680	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	227					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AATGGTCATTGTGTGCCTCAT	0.577000													53	45					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421468	6421468	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:6421468C>T	uc001qnr.3	+	1	224	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	PLEKHG6_uc001qns.3_Missense_Mutation_p.R26W|PLEKHG6_uc010sew.2_Missense_Mutation_p.R26W|PLEKHG6_uc010sex.2_5'Flank	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	26					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTATGGGGGCCGGCATCGAGC	0.617000													4	78					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33639792	33639792	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:33639792A>G	uc002nui.3	+	4	733	c.655A>G	c.(655-657)Atc>Gtc	p.I219V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	219										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCGAGAACATCACCACCGT	0.502000													28	120					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939228	14939228	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:14939228T>C	uc021png.1	+	2	667	c.561T>C	c.(559-561)gcT>gcC	p.A187A	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Silent_p.A127A|SUV39H2_uc001ini.3_Silent_p.A127A|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Silent_p.A127A	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	187					cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TCAATGAAGCTACCTTTGGTT	0.363000													34	46					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612258	20612258	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:20612258C>A	uc010tla.2	+	0	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483000													51	78					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156712414	156712414	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:156712414G>A	uc021ygm.1	+	1	181	c.43G>A	c.(43-45)Gac>Aac	p.D15N	CYFIP2_uc011ddn.2_Missense_Mutation_p.D15N|CYFIP2_uc011ddo.2_Missense_Mutation_p.D15N|CYFIP2_uc021ygn.1_Missense_Mutation_p.D15N|CYFIP2_uc021ygo.1_Missense_Mutation_p.D15N	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	15					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCAACGTGGACCTGCTTGA	0.537000													6	4					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206921004	206921004	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:206921004G>C	uc002vaz.4	-	3	1287	c.882C>G	c.(880-882)ttC>ttG	p.F294L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	294					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TTATACATGAGAAGTGTGGAG	0.517000													25	60					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	54003562	54003562	+	Silent	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:54003562A>G	uc002acj.2	-	7	870	c.828T>C	c.(826-828)ggT>ggC	p.G276G	WDR72_uc010bfi.1_Silent_p.G276G	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	276										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTAACTGTGACCATCTTCTG	0.438000													5	38					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118931403	118931403	+	Missense_Mutation	SNP	C	C	G	rs72655939	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:118931403C>G	uc003ecg.3	-	7	1669	c.1028G>C	c.(1027-1029)gGt>gCt	p.G343A	B4GALT4_uc003ece.1_3'UTR|B4GALT4_uc003ech.3_Missense_Mutation_p.G343A|B4GALT4_uc003eci.3_Missense_Mutation_p.G343A	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	343					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGTCATGCACCAAACCAGAA	0.383000													20	55					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094611	150094611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:150094611C>T	uc003whf.1	+	2	1167	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCTTCCGCCAGAAGCAGCA	0.741000													5	14					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400841	195400841	+	Missense_Mutation	SNP	C	C	A	rs7615369	by1000genomes	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400841C>A	uc003fuw.3	+	8	1331	c.137C>A	c.(136-138)gCa>gAa	p.A46E	SDHAP2_uc011btb.1_Silent_p.R193R|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CTGAGCATCGCAGAGTCGTGC	0.552000													5	48					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105876451	105876451	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:105876451G>A	uc004emi.4	+	5	1423	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	CXorf57_uc004emj.4_Silent_p.S424S|CXorf57_uc004emh.2_Silent_p.S424S	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	424								p.S424A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAACATCGCAGCCAGAAA	0.318000													19	5					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683707	100683707	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:100683707G>T	uc003uxp.1	+	2	9063	c.9010G>T	c.(9010-9012)Gct>Tct	p.A3004S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3004	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E3003Q(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.517000													173	478					0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52356849	52356849	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:52356849C>G	uc002abp.3	+	5	2612	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	606					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ACTGTTTTTTCATAAATCAGT	0.403000													25	31					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(18)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	105					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18060487	18060487	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:18060487G>A	uc021trm.1	+	48	8950	c.8731G>A	c.(8731-8733)Gtg>Atg	p.V2911M	MYO15A_uc021trl.1_Missense_Mutation_p.V2909M|MYO15A_uc010vxi.2_Missense_Mutation_p.V175M|MYO15A_uc010vxj.1_Missense_Mutation_p.V110M|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank|MYO15A_uc010vxm.2_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2911	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity	p.V2911M(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGGCTGCGTGGTTCGCAG	0.672000													9	23					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105483157	105483157	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:105483157C>T	uc001pix.2	+	2	689	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GRIA4_uc001piu.1_Silent_p.N81N|GRIA4_uc001piw.2_Silent_p.N81N|GRIA4_uc001piv.3_Silent_p.N81N|GRIA4_uc009yxk.1_Silent_p.N81N|GRIA4_uc001pit.3_Silent_p.N81N	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	81					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGTAACAAACGCCTGTAAGT	0.363000													11	4					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350557	71350557	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:71350557T>A	uc010nlh.2	-	0	834	c.834A>T	c.(832-834)aaA>aaT	p.K278N	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.K278N|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	278										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CCGACAGGCCTTTGAGGAATT	0.502000													56	70					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	107					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702035	181702035	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:181702035G>A	uc009wxt.3	+	19	3008	c.2813G>A	c.(2812-2814)cGg>cAg	p.R938Q	CACNA1E_uc001gow.3_Missense_Mutation_p.R938Q|CACNA1E_uc009wxs.3_Missense_Mutation_p.R919Q|CACNA1E_uc001gox.1_Missense_Mutation_p.R164Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	938					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R938Q(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAGCCTCCCGGAGCAGGTCT	0.642000													46	90					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10699459	10699459	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:10699459C>T	uc001aro.3	-	20	5140	c.4820G>A	c.(4819-4821)gGc>gAc	p.G1607D		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCGCGGGGCCCTCTGCCGC	0.746000													4	6					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164617	139164617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr8:139164617G>A	uc003yuy.3	-	12	2272	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*	FAM135B_uc003yux.3_Nonsense_Mutation_p.R602*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.R263*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.R263*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	701										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCCTGCTTCGGGCCTCTGAC	0.557000										HNSCC(54;0.14)			16	30					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176793982	176793982	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:176793982G>A	uc003mgh.3	+	4	612	c.430G>A	c.(430-432)Gag>Aag	p.E144K	RGS14_uc003mgf.3_Missense_Mutation_p.E144K|RGS14_uc003mgg.1_5'UTR|RGS14_uc003mgi.3_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	144	RGS.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CTGGCTTGGCGAGGAGGTGCT	0.637000													34	59					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696730	47696730	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:47696730G>C	uc002ipg.3	-	3	515	c.218C>G	c.(217-219)cCc>cGc	p.P73R	SPOP_uc010dbk.3_Missense_Mutation_p.P73R|SPOP_uc002ipb.3_Missense_Mutation_p.P73R|SPOP_uc002ipc.3_Missense_Mutation_p.P73R|SPOP_uc002ipd.3_Missense_Mutation_p.P73R|SPOP_uc002ipe.3_Missense_Mutation_p.P73R|SPOP_uc002ipf.3_Missense_Mutation_p.P73R	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	73	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TAACCCTTTGGGGTTTACTCG	0.393000										Prostate(2;0.17)			25	2					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045104	35045104	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:35045104G>T	uc001zis.1	-	1	541	c.541C>A	c.(541-543)Cta>Ata	p.L181I	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	181					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCAGTGCGTAGACCTGATGGG	0.493000													4	110					0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57335061	57335061	+	Silent	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:57335061C>A	uc001nkn.2	-	0	120	c.24G>T	c.(22-24)gtG>gtT	p.V8V	UBE2L6_uc001nko.2_Intron	NM_004223	NP_937826	O14933	UB2L6_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2L 6 (UBE2L6), transcript variant 1, mRNA.	8					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						CGGTTACCTTCACCACTCGCA	0.662000													5	10					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57327822	57327822	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:57327822G>T	uc010sqw.2	-	0	368	c.224C>A	c.(223-225)aCc>aAc	p.T75N		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	75						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAGTAGGGTGGTCTGCAGCCG	0.577000													56	35					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732884	152732884	+	Missense_Mutation	SNP	C	C	T	rs148079077		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:152732884C>T	uc001fal.1	+	1	878	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	KPRP_uc021ozf.1_Missense_Mutation_p.R274C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	274	Pro-rich.					cytoplasm		p.R274C(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACCAAGACGTTTTGAGCC	0.592000													63	39					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs72406230		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:44447007_44447009delAGC	uc010okl.2	+	1	338_340	c.262_264delAGC	c.(262-264)agcdel	p.S94del	B4GALT2_uc001clg.3_In_Frame_Del_p.S65del|B4GALT2_uc001clh.3_In_Frame_Del_p.A14del|B4GALT2_uc001cli.3_In_Frame_Del_p.S65del	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	65					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685													7	124	---	---	---	---					
RTN4	57142	broad.mit.edu	37	2	55276891	55276892	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:55276891_55276892delCG	uc002rye.3	-	0	843_844	c.545_546delCG	c.(544-546)tcgfs	p.S182fs	RTN4_uc002ryd.3_5'Flank|RTN4_uc002ryf.3_Frame_Shift_Del_p.S182fs|RTN4_uc002ryg.3_Frame_Shift_Del_p.S182fs|RTN4_uc010yov.1_5'Flank	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	182					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCACTGAGCCCGAGGAGCCCCT	0.757													2	4	---	---	---	---					
SDHAP2	727956	broad.mit.edu	37	3	195400814	195400815	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400814_195400815insTT	uc003fuw.3	+	8	1304_1305	c.110_111insTT	c.(109-111)tctfs	p.S37fs	SDHAP2_uc011btb.1_Frame_Shift_Ins_p.V184fs|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		ACCTGGTTGTCTGGTCAGGCAT	0.574													7	53	---	---	---	---					
UTF1	8433	broad.mit.edu	37	10	135044121	135044121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:135044121delC	uc001lmc.3	+	0	344	c.329delC	c.(328-330)accfs	p.T110fs		NM_003577	NP_003568	Q5T230	UTF1_HUMAN	Homo sapiens undifferentiated embryonic cell transcription factor 1 (UTF1), mRNA.	110	Pro-rich.				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GTGCGCCGCACCCCCGCGCAG	0.736													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579575	7579575	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:7579575delG	uc002gim.2	-	3	306	c.112delC	c.(112-114)caafs	p.Q38fs	TP53_uc002gig.1_Frame_Shift_Del_p.Q38fs|TP53_uc002gih.3_Frame_Shift_Del_p.Q38fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Frame_Shift_Del_p.Q38fs|TP53_uc010cnh.1_Frame_Shift_Del_p.Q38fs|TP53_uc002gij.2_Frame_Shift_Del_p.Q38fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_5'UTR|TP53_uc010cnk.1_Frame_Shift_Del_p.Q53fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	38	Interaction with HRMT1L2.|Transcription activation (acidic).				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q38*(12)|p.0?(8)|p.P36fs*4(3)|p.S37fs*79(2)|p.Q38L(1)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37T(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCATTGCTTGGGACGGCAAG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			210	27	---	---	---	---					
