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
UBR4	23352	broad.mit.edu	37	1	19504071	19504071	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:19504071T>C	uc001bbi.3	-	18	2525	c.2521A>G	c.(2521-2523)Agc>Ggc	p.S841G	UBR4_uc001bbm.1_Missense_Mutation_p.S52G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	841					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTTGACGCTCAACTCCTGG	0.507												
ZNF643	65243	broad.mit.edu	37	1	40919923	40919923	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:40919923G>T	uc001cfn.2	+	1	473	c.176G>T	c.(175-177)aGt>aTt	p.S59I	ZNF643_uc001cfl.2_Intron|ZNF643_uc001cfm.2_5'UTR	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			AGTTTAGAGAGTAGAGTGACC	0.493												
HRNR	388697	broad.mit.edu	37	1	152192865	152192865	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152192865C>T	uc001ezt.1	-	2	1316	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	414					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTTGGCCGCGGCCTGAA	0.632												
FLG	2312	broad.mit.edu	37	1	152283171	152283171	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152283171G>C	uc001ezu.1	-	2	4227	c.4191C>G	c.(4189-4191)aaC>aaG	p.N1397K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1397	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)			GTCCCTCACTGTTAGTGACCT	0.567									Ichthyosis			
LCE1C	353133	broad.mit.edu	37	1	152777634	152777634	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152777634G>A	uc021ozi.1	-	0	321	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_uc001fap.1_Silent_p.G107G	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	107	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662												
OR10R2	343406	broad.mit.edu	37	1	158449884	158449884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:158449884delA	uc010pik.2	+	0	217	c.217delA	c.(217-219)aaafs	p.K73fs	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCACCTGGATAAAAGCCTCCA	0.418												
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537												
DMBT1	1755	broad.mit.edu	37	10	124376759	124376759	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr10:124376759C>G	uc001lgk.1	+	36	4593	c.4487C>G	c.(4486-4488)tCt>tGt	p.S1496C	DMBT1_uc001lgl.1_Missense_Mutation_p.S1486C|DMBT1_uc001lgm.1_Missense_Mutation_p.S868C|DMBT1_uc021qaf.1_Missense_Mutation_p.S1496C|DMBT1_uc021qag.1_Missense_Mutation_p.S1486C|DMBT1_uc021qah.1_Missense_Mutation_p.S868C|DMBT1_uc009xzz.1_Missense_Mutation_p.S1496C|DMBT1_uc010qtx.1_Missense_Mutation_p.S347C|DMBT1_uc009yab.1_Missense_Mutation_p.S199C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1496					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCAACCTCTCGTGCATCA	0.448												
CKAP5	9793	broad.mit.edu	37	11	46783673	46783673	+	Silent	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:46783673T>C	uc001ndi.2	-	31	4224	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	CKAP5_uc009ylg.1_Silent_p.K1252K|CKAP5_uc001ndj.2_Silent_p.K1366K|CKAP5_uc001ndh.1_Silent_p.K295K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1366					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTTAAGGCTTTTCCTGGGG	0.478												
OR8K3	219473	broad.mit.edu	37	11	56085805	56085805	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:56085805C>T	uc010rjf.2	+	0	23	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T8T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATCTAACAACGGTGAATGAA	0.413												
MS4A3	932	broad.mit.edu	37	11	59828705	59828705	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:59828705G>A	uc001nom.3	+	1	200	c.72G>A	c.(70-72)gcG>gcA	p.A24A	MS4A3_uc001non.3_Silent_p.A24A|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	24				A -> T (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCAGTGAGGCGGGACCAGAAG	0.493												
SIPA1	6494	broad.mit.edu	37	11	65417064	65417064	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:65417064A>C	uc001ofb.2	+	10	2725	c.2558A>C	c.(2557-2559)aAc>aCc	p.N853T	SIPA1_uc010rom.1_Missense_Mutation_p.N751T|SIPA1_uc001ofd.2_Missense_Mutation_p.N853T	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	853					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTCCTGCCCAACACCACCCCG	0.642												
MMP3	4314	broad.mit.edu	37	11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	rs147533686	by1000genomes	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:102709964G>A	uc001phj.1	-	6	1011	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R316C(6)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGATTTGCGCCAAAAGTGC	0.403												
MANSC1	54682	broad.mit.edu	37	12	12483054	12483054	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr12:12483054G>A	uc001rai.1	-	3	1461	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MANSC1_uc010shm.1_Silent_p.L335L|MANSC1_uc001raj.1_Silent_p.L367L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	401						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCAGGAGGACGAGGCCTATCA	0.488												
C14orf39	317761	broad.mit.edu	37	14	60945101	60945101	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:60945101C>A	uc001xez.4	-	4	350	c.240G>T	c.(238-240)aaG>aaT	p.K80N	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	80										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CACATGTTGGCTTCCAGCTAT	0.259												
ZFP36L1	677	broad.mit.edu	37	14	69256954	69256954	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:69256954G>A	uc021rve.1	-	2	614	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	ZFP36L1_uc001xki.2_Missense_Mutation_p.P105S|ZFP36L1_uc001xkh.2_Missense_Mutation_p.P105S	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	105					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCGCCCCCGGGCTGCTTCTGG	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACAN	176	broad.mit.edu	37	15	89386651	89386651	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr15:89386651C>T	uc010upo.1	+	5	1197	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	ACAN_uc002bmx.3_Missense_Mutation_p.R275W|ACAN_uc010upp.1_Missense_Mutation_p.R275W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	275					cell adhesion		hyaluronic acid binding|sugar binding	p.R274Q(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGTGCCGGCGGCTGGGTGC	0.642												
AMDHD2	51005	broad.mit.edu	37	16	2580611	2580611	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:2580611C>T	uc010uwc.2	+	10	1733	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	AMDHD2_uc010uwd.2_Missense_Mutation_p.R310C|CEMP1_uc002cqr.3_Missense_Mutation_p.R155H	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	0					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGGAGGTACGCGCCTGGCTCT	0.567												
ATXN2L	11273	broad.mit.edu	37	16	28847275	28847275	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:28847275A>T	uc002dqy.3	+	21	3084	c.2917A>T	c.(2917-2919)Aca>Tca	p.T973S	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T973S|ATXN2L_uc002dra.3_Missense_Mutation_p.T973S|ATXN2L_uc002drb.3_Missense_Mutation_p.T973S|ATXN2L_uc002drc.3_Missense_Mutation_p.T973S|ATXN2L_uc010vdb.2_Missense_Mutation_p.T979S|ATXN2L_uc002dre.3_Missense_Mutation_p.T973S|ATXN2L_uc002drf.3_Missense_Mutation_p.T382S|ATXN2L_uc002drg.3_Missense_Mutation_p.T256S	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	973						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AACTGGAATCACAGCAGCCCC	0.622												
MYH8	4626	broad.mit.edu	37	17	10304645	10304645	+	Nonsense_Mutation	SNP	T	T	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:10304645T>A	uc002gmm.2	-	23	3150	c.3055A>T	c.(3055-3057)Aaa>Taa	p.K1019*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1019					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGTTGACTTTGTCCTCCTCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling			
NLE1	54475	broad.mit.edu	37	17	33463392	33463392	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:33463392A>G	uc002hiy.1	-	7	981	c.953T>C	c.(952-954)cTc>cCc	p.L318P	NLE1_uc002hiz.1_Missense_Mutation_p.L26P	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	318						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGATCCTTGGAGGTCTTGGGG	0.567												
EPX	8288	broad.mit.edu	37	17	56270743	56270743	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:56270743G>A	uc002ivq.3	+	2	301	c.182G>A	c.(181-183)cGg>cAg	p.R61Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	61					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R61W(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ATCAAGCAGCGGCTTCGCAGC	0.612												
XAB2	56949	broad.mit.edu	37	19	7687257	7687257	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:7687257A>G	uc002mgx.3	-	11	1603	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	526					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGGAACATGGCATAGTT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)				
NDUFA3	4696	broad.mit.edu	37	19	54609317	54609317	+	Silent	SNP	A	A	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:54609317A>C	uc002qde.3	+	3	190	c.163_splice	c.e3+1	p.V55_splice	NDUFA3_uc002qdf.3_Splice_Site	NM_004542	NP_004533	O95167	NDUA3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA.	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	ACAACTACCCAGGTGAGTGGG	0.577												
ZNF497	162968	broad.mit.edu	37	19	58868065	58868065	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:58868065C>T	uc002qsh.2	-	2	1220	c.937G>A	c.(937-939)Gag>Aag	p.E313K	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.E313K|ZNF497_uc021vcw.1_Missense_Mutation_p.E313K|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGCGAGCTCTCGCGGAAAGCC	0.701												
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381721	+	Silent	SNP	C	C	T	rs138120208		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:144381721C>T	uc002tvm.4	+	11	1174	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	ARHGAP15_uc002tvn.3_Silent_p.D107D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448												
ZDBF2	57683	broad.mit.edu	37	2	207174442	207174442	+	Silent	SNP	G	G	A	rs140337696	by1000genomes	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:207174442G>A	uc002vbp.2	+	4	5440	c.5190G>A	c.(5188-5190)tcG>tcA	p.S1730S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1730							nucleic acid binding|zinc ion binding	p.R1729C(1)|p.S1730L(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAAACGTTCGAAGCTAAAAC	0.458												
NTSR1	4923	broad.mit.edu	37	20	61340986	61340986	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr20:61340986G>A	uc002ydf.3	+	0	798	c.427G>A	c.(427-429)Ggc>Agc	p.G143S		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	143						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCTGCCGCGGCTACTACTT	0.677												
EP300	2033	broad.mit.edu	37	22	41556657	41556657	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr22:41556657G>A	uc003azl.4	+	19	3997	c.3602G>A	c.(3601-3603)tGt>tAt	p.C1201Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1201					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCATTTCTGTGAGAAGTGT	0.488			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome			
ITGA9	3680	broad.mit.edu	37	3	37555330	37555330	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:37555330C>A	uc003chd.3	+	8	1027	c.974C>A	c.(973-975)gCc>gAc	p.A325D	ITGA9_uc003chc.3_Missense_Mutation_p.A325D	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	325					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTGGTGGGGGCCCCCATGTTT	0.547												
NBEAL2	23218	broad.mit.edu	37	3	47040321	47040321	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:47040321C>T	uc003cqp.3	+	22	3515	c.3336C>T	c.(3334-3336)gtC>gtT	p.V1112V	NBEAL2_uc010hjm.2_Silent_p.V673V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1112							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGTGCAGGTCACGCAGACCA	0.672											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NLGN1	22871	broad.mit.edu	37	3	173525621	173525621	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:173525621C>T	uc021xhm.1	+	4	1086	c.766_splice	c.e4+1	p.G256_splice	NLGN1_uc003fio.1_Splice_Site_p.G216_splice|NLGN1_uc010hww.1_Splice_Site_p.G256_splice|NLGN1_uc003fip.1_Splice_Site_p.G216_splice	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	233					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGAGTACTCGGTAAGAAGA	0.383												
CLNK	116449	broad.mit.edu	37	4	10522452	10522452	+	Silent	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:10522452A>G	uc003gmo.4	-	14	872	c.735T>C	c.(733-735)tcT>tcC	p.S245S		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	245	Poly-Ser.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCGTGAATGAAGAACTATAAG	0.363												
SLC30A9	10463	broad.mit.edu	37	4	42080309	42080309	+	Silent	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:42080309A>G	uc003gwl.3	+	16	1775	c.1629A>G	c.(1627-1629)ggA>ggG	p.G543G	SLC30A9_uc011byx.2_Silent_p.G303G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	543					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACTTTAGGAGCTGAAGTAG	0.299												
SMR3A	10879	broad.mit.edu	37	4	71255517	71255517	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:71255517C>T	uc011cas.2	+	2	273	c.192C>T	c.(190-192)ccC>ccT	p.P64P	SMR3A_uc003hfh.3_Silent_p.P64P	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	68	Pro-rich.					extracellular region		p.P64P(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCTCCTCCCGCACCCTATG	0.602												
IRX1	79192	broad.mit.edu	37	5	3599499	3599499	+	Missense_Mutation	SNP	T	T	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:3599499T>G	uc003jde.3	+	1	489	c.437T>G	c.(436-438)cTc>cGc	p.L146R		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGGCCTGGCTCAACGAGCAC	0.637												
MAP3K1	4214	broad.mit.edu	37	5	56176540	56176540	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:56176540G>A	uc003jqw.4	+	11	2591	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	697					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.I696I(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTTTTAGCCGCACAAGTCAG	0.398												
CMYA5	202333	broad.mit.edu	37	5	79029879	79029879	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:79029879G>T	uc003kgc.3	+	1	5363	c.5291G>T	c.(5290-5292)gGa>gTa	p.G1764V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1764						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTAAAAAGGGAGGAAATCAA	0.413												
FAM81B	153643	broad.mit.edu	37	5	94749823	94749823	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:94749823G>A	uc003kla.1	+	3	512	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	156								p.A156T(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGAATCGCTCGCCAGGAAGTT	0.458												
GABRA6	2559	broad.mit.edu	37	5	161128647	161128647	+	Silent	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:161128647C>A	uc003lyu.2	+	8	1568	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A	GABRA6_uc003lyv.2_Silent_p.A181A	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	410					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCGCCAGCCTTTGGAGGCA	0.468										TCGA Ovarian(5;0.080)		
CAP2	10486	broad.mit.edu	37	6	17543298	17543298	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:17543298G>A	uc003ncb.3	+	10	1376	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.C352Y|CAP2_uc011djb.2_Missense_Mutation_p.C314Y|CAP2_uc011djc.2_Missense_Mutation_p.C266Y|CAP2_uc011djd.2_Missense_Mutation_p.C118Y	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	378	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGACAACTGTAAAAAACTC	0.403												
ROS1	6098	broad.mit.edu	37	6	117638305	117638305	+	Splice_Site	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:117638305C>T	uc003pxp.1	-	38	6334	c.6135_splice	c.e38+1	p.T2045_splice	ROS1_uc011ebi.1_Splice_Site	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2045	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAACTGCCTACCGTTGCCATC	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""							
DAGLB	221955	broad.mit.edu	37	7	6449599	6449599	+	Missense_Mutation	SNP	G	G	A	rs34807437		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:6449599G>A	uc003sqa.3	-	14	2058	c.1888C>T	c.(1888-1890)Ctc>Ttc	p.L630F	DAGLB_uc003spy.3_Missense_Mutation_p.L176F|DAGLB_uc003spz.3_Missense_Mutation_p.L327F|DAGLB_uc011jwt.2_Missense_Mutation_p.L444F|DAGLB_uc011jwu.2_Missense_Mutation_p.L501F|DAGLB_uc003sqb.3_Missense_Mutation_p.L349F|DAGLB_uc003sqc.3_Missense_Mutation_p.L349F|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Missense_Mutation_p.L589F	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	630					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGACCTATGAGTATTTTGCTG	0.577												
FBXO24	26261	broad.mit.edu	37	7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:100198322A>G	uc011kjz.1	+	9	1725	c.1657A>G	c.(1657-1659)Atg>Gtg	p.M553V	FBXO24_uc003uvm.1_Missense_Mutation_p.M515V|FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	515						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662												
NOM1	64434	broad.mit.edu	37	7	156743012	156743012	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:156743012G>A	uc003wmy.3	+	0	596	c.581G>A	c.(580-582)gGt>gAt	p.G194D		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	194	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGTTGCCTCGGTTTGAACAAG	0.617												
CYP11B1	1584	broad.mit.edu	37	8	143960555	143960555	+	Silent	SNP	G	G	A	rs5284		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr8:143960555G>A	uc010mey.3	-	2	430	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.D96D|CYP11B1_uc003yxj.3_Silent_p.D96D	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.D96D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTTCTCCACGTCCTCCGGCA	0.627									Familial Hyperaldosteronism type I			
CACNA1B	774	broad.mit.edu	37	9	140809200	140809200	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr9:140809200C>T	uc004cog.3	+	4	862	c.717C>T	c.(715-717)atC>atT	p.I239I	CACNA1B_uc022bqn.1_Silent_p.I239I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.I239I(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTTTGCCATCATTGGCCTGG	0.567