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
PRAMEF2	65122	broad.mit.edu	37	1	12919080	12919080	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:12919080G>A	uc001aum.1	+	1	303	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	72			T -> R (in dbSNP:rs9659529).							breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGACGCTTCATCTGG	0.552												
SPEN	23013	broad.mit.edu	37	1	16199442	16199442	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:16199442G>C	uc001axk.1	+	1	419	c.215G>C	c.(214-216)aGa>aCa	p.R72T	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	72	RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGGTGACAGAGACCTACGC	0.493												
TCEA3	6920	broad.mit.edu	37	1	23720438	23720438	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:23720438G>A	uc021oig.1	-	7	888	c.753C>T	c.(751-753)ccC>ccT	p.P251P	TCEA3_uc009vqm.2_Silent_p.P20P	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	251	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCCGCAGGCCGGGGTTCCTGG	0.597												
MPL	4352	broad.mit.edu	37	1	43817970	43817970	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:43817970G>A	uc001ciw.3	+	10	1694	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	MPL_uc009vwr.3_Missense_Mutation_p.S543N	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	550					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGCCCTGAGCCCGGTGAGT	0.607			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia					
DAB1	1600	broad.mit.edu	37	1	57480758	57480758	+	Silent	SNP	C	C	T	rs147876561	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:57480758C>T	uc009vzx.1	-	11	1562	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	DAB1_uc001cyt.1_Silent_p.T412T|DAB1_uc001cyq.1_Silent_p.T412T|DAB1_uc001cyr.1_Silent_p.T328T|DAB1_uc009vzw.1_Silent_p.T396T|DAB1_uc001cys.1_Silent_p.T414T	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	447					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AATCCTTAAACGTTTCTTTGC	0.602												
DCLRE1B	64858	broad.mit.edu	37	1	114454524	114454524	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:114454524C>G	uc001eeg.3	+	3	1604	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.S311C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	437					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTTAAGGTCTACAGATGAG	0.473								Other identified genes with known or suspected DNA repair function				
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:158151257delT	uc001frr.3	+	2	573	c.74delT	c.(73-75)cttfs	p.L25fs	CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592												
CRB1	23418	broad.mit.edu	37	1	197313558	197313558	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:197313558C>A	uc001gtz.3	+	2	1009	c.800C>A	c.(799-801)gCc>gAc	p.A267D	CRB1_uc010poz.2_Missense_Mutation_p.A198D|CRB1_uc001gty.2_Missense_Mutation_p.A267D|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.A267D|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	267	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.C266C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGAGTGTGCCAGTCAACCT	0.512												
IGFN1	91156	broad.mit.edu	37	1	201190709	201190709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:201190709C>T	uc001gwc.3	+	18	10166	c.10036C>T	c.(10036-10038)Ctc>Ttc	p.L3346F	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCAGACAGTCTCCAGTGGCT	0.632												
TLR5	7100	broad.mit.edu	37	1	223285038	223285038	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:223285038G>A	uc021pjl.1	-	0	1336	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TLR5_uc001hnv.2_Missense_Mutation_p.R446W|TLR5_uc001hnw.2_Missense_Mutation_p.R446W	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	446			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGGTACCCGTAGGAGAAAG	0.403												
C1orf150	148823	broad.mit.edu	37	1	247712504	247712504	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:247712504A>T	uc001idf.3	+	0	158	c.11A>T	c.(10-12)tAt>tTt	p.Y4F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	4								p.N3K(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATGGGAAATTATCTCCTGCGA	0.473												
CDH23	64072	broad.mit.edu	37	10	73567464	73567464	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:73567464G>A	uc001jrx.4	+	56	8881	c.8491G>A	c.(8491-8493)Gtt>Att	p.V2831I	CDH23_uc001jsg.4_Missense_Mutation_p.V594I|CDH23_uc001jsh.4_Missense_Mutation_p.V594I|CDH23_uc001jsi.4_Missense_Mutation_p.V594I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2834	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGGTGCGCGTTGTGCTAGA	0.632												
MYOF	26509	broad.mit.edu	37	10	95119651	95119651	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:95119651C>T	uc001kin.3	-	28	3182	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	MYOF_uc001kio.3_Missense_Mutation_p.R1007Q|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1020					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGCCTTCGCCGTCTATGAGT	0.502												
OR51V1	283111	broad.mit.edu	37	11	5221570	5221570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:5221570A>T	uc010qyz.2	-	0	361	c.361T>A	c.(361-363)Tcc>Acc	p.S121T		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACAGAGGACTCCATGAAG	0.473												
OR10A3	26496	broad.mit.edu	37	11	7960995	7960995	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:7960995C>T	uc010rbi.2	-	0	73	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCACCTGGAGCTCA	0.413												
INSC	387755	broad.mit.edu	37	11	15198673	15198673	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:15198673T>C	uc001mlz.3	+	3	530	c.419T>C	c.(418-420)aTg>aCg	p.M140T	INSC_uc001mly.3_Missense_Mutation_p.M187T|INSC_uc001mma.3_Missense_Mutation_p.M140T|INSC_uc010rcs.2_Missense_Mutation_p.M140T|INSC_uc001mmb.3_Missense_Mutation_p.M140T|INSC_uc001mmc.3_Missense_Mutation_p.M140T	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	187					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAGCTGCTAATGGAGAAATGC	0.493												
OR1S1	219959	broad.mit.edu	37	11	57982888	57982888	+	Silent	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:57982888T>C	uc010rkc.2	+	0	672	c.672T>C	c.(670-672)ttT>ttC	p.F224F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTTCCCCTTTACACTCAGCT	0.453												
MMP27	64066	broad.mit.edu	37	11	102575419	102575419	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:102575419G>A	uc001phd.1	-	1	213	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	64					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R64W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGCATTTCCCGAATTTTGTCA	0.428												
KDELC2	143888	broad.mit.edu	37	11	108345675	108345675	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:108345675T>A	uc001pkj.2	-	7	1469	c.1403A>T	c.(1402-1404)tAt>tTt	p.Y468F	KDELC2_uc001pki.2_Missense_Mutation_p.Y412F	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	468						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GCGCTCGGCATATTTCTGAAA	0.507												
CLEC7A	64581	broad.mit.edu	37	12	10277922	10277922	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10277922G>C	uc001qxg.2	-	3	653	c.466C>G	c.(466-468)Cta>Gta	p.L156V	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxh.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxi.2_Missense_Mutation_p.L156V|CLEC7A_uc001qxj.2_Missense_Mutation_p.L77V|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.L110V|CLEC7A_uc021qva.1_Missense_Mutation_p.L110V	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	156	C-type lectin.				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCTATCTTTAGGAGATTAGAG	0.383												
KLRC2	3823	broad.mit.edu	37	12	10587963	10587963	+	Silent	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10587963G>T	uc001qyh.3	-	1	241	c.234C>A	c.(232-234)atC>atA	p.I78I	KLRC2_uc010she.1_Silent_p.I78I|KLRC2_uc001qyk.2_Silent_p.I78I	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	78					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CAATGCAAATGATTCCTAGGA	0.428												
HDAC7	51564	broad.mit.edu	37	12	48181754	48181754	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:48181754G>A	uc010slo.2	-						HDAC7_uc001rqe.3_Intron|HDAC7_uc001rqj.4_Intron|HDAC7_uc001rqk.4_Intron|HDAC7_uc010slp.2_5'UTR	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.						negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		cacacagctcgtcatgacaga	0.572												
METTL1	4234	broad.mit.edu	37	12	58162873	58162873	+	Missense_Mutation	SNP	C	C	T	rs140194153	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:58162873C>T	uc010ssd.2	-	5	785	c.737G>A	c.(736-738)cGt>cAt	p.R246H	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_3'UTR	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	246						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CCCTCCATTACGTAGAACTTT	0.532												
LRRIQ1	84125	broad.mit.edu	37	12	85459186	85459186	+	Silent	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:85459186T>C	uc001tac.3	+	8	2649	c.2538T>C	c.(2536-2538)gaT>gaC	p.D846D	LRRIQ1_uc021rbo.1_Silent_p.D724D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	846								p.D846N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTACATTGATGCACAGGTAT	0.333												
KIAA1033	23325	broad.mit.edu	37	12	105519878	105519878	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:105519878A>G	uc010swr.2	+	10	970	c.883A>G	c.(883-885)Att>Gtt	p.I295V	KIAA1033_uc001tld.3_Missense_Mutation_p.I295V|KIAA1033_uc010sws.2_Missense_Mutation_p.I107V	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	295					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TATTCGGTCAATTTTTGCAAA	0.308												
DYNC1H1	1778	broad.mit.edu	37	14	102514280	102514280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr14:102514280G>A	uc001yks.2	+	72	13297	c.13133G>A	c.(13132-13134)cGg>cAg	p.R4378Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4378					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTGGATGCGGACACTGCAC	0.612												
NRG4	145957	broad.mit.edu	37	15	76301577	76301577	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr15:76301577C>A	uc002bbo.3	-	2	250	c.68G>T	c.(67-69)tGt>tTt	p.C23F	NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	Homo sapiens neuregulin 4 (NRG4), mRNA.	23	EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TATCACATAACAAAGCCCCCC	0.388												
SRRM2	23524	broad.mit.edu	37	16	2812703	2812703	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:2812703G>A	uc002crk.3	+	10	2723	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D	SRRM2_uc002crj.1_Missense_Mutation_p.G629D|SRRM2_uc002crl.1_Missense_Mutation_p.G725D|SRRM2_uc010bsu.1_Missense_Mutation_p.G629D	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	725	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.S724fs*27(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCAGATCTGGCTCATCTTCA	0.463												
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617												
CHD9	80205	broad.mit.edu	37	16	53276816	53276816	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:53276816G>T	uc002ehb.3	+	11	3106	c.2942G>T	c.(2941-2943)gGa>gTa	p.G981V	CHD9_uc002egy.3_Missense_Mutation_p.G981V|CHD9_uc002ehc.3_Missense_Mutation_p.G981V|CHD9_uc002ehf.3_Missense_Mutation_p.G95V|CHD9_uc002ehg.2_Missense_Mutation_p.G95V|CHD9_uc002ehd.2_Missense_Mutation_p.G507V|CHD9_uc002ehe.1_Missense_Mutation_p.G95V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	981	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATTCTTGGAGGCTGTGGA	0.363												
CDYL2	124359	broad.mit.edu	37	16	80718602	80718602	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:80718602T>C	uc002ffs.3	-	1	554	c.449A>G	c.(448-450)aAa>aGa	p.K150R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	150						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTGAGACTTTTTCAGGGGCAT	0.512												
MAP2K3	5606	broad.mit.edu	37	17	21205510	21205510	+	Missense_Mutation	SNP	G	G	A	rs148304866		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:21205510G>A	uc002gys.3	+	5	720	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	MAP2K3_uc002gyt.3_Missense_Mutation_p.R123Q|MAP2K3_uc021tsq.1_Missense_Mutation_p.R123Q|MAP2K3_uc021tsr.1_Missense_Mutation_p.R123Q	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	152	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGTTCTACCGGAAGGTGCTG	0.592												
NOS2	4843	broad.mit.edu	37	17	26094858	26094858	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:26094858G>A	uc002gzu.3	-	17	2304	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A	NOS2_uc010wab.1_Silent_p.A645A	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	680					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.A679S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGTCTCACAGGCTGCCTGGA	0.572												
EVI2B	2124	broad.mit.edu	37	17	29632208	29632208	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632208C>A	uc010csq.2	-	2	648	c.465G>T	c.(463-465)aaG>aaT	p.K155N	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140N|EVI2B_uc021tuk.1_Missense_Mutation_p.K140N	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	140						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AGACAAATGACTTTGGTGGTT	0.438												
EVI2B	2124	broad.mit.edu	37	17	29632210	29632210	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632210T>G	uc010csq.2	-	2	646	c.463A>C	c.(463-465)Aag>Cag	p.K155Q	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140Q|EVI2B_uc021tuk.1_Missense_Mutation_p.K140Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	140						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ACAAATGACTTTGGTGGTTGT	0.438												
PEX12	5193	broad.mit.edu	37	17	33904178	33904178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:33904178G>A	uc002hjp.3	-	1	1175	c.559C>T	c.(559-561)Cag>Tag	p.Q187*		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	187					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.Q187Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTGATGCTGAGCTTTTCCT	0.493												
TEX14	56155	broad.mit.edu	37	17	56699012	56699012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:56699012C>A	uc010dcz.2	-	5	672	c.554_splice	c.e5+1	p.G185_splice	TEX14_uc002iwr.2_Splice_Site_p.G185_splice|TEX14_uc002iws.2_Splice_Site_p.G185_splice|TEX14_uc010dda.2_Splice_Site	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	185						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTCACCCCTGCACGAGG	0.612												
TIMM44	10469	broad.mit.edu	37	19	7998999	7998999	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:7998999G>T	uc002miz.3	-	4	690	c.518C>A	c.(517-519)aCa>aAa	p.T173K	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	173					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GAAGGCCGCTGTCCTGCCCAG	0.677												
SLC44A2	57153	broad.mit.edu	37	19	10748353	10748353	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:10748353C>T	uc002mpf.3	+	16	1764	c.1625C>T	c.(1624-1626)aCc>aTc	p.T542I	SLC44A2_uc002mpe.4_Missense_Mutation_p.T540I|SLC44A2_uc002mpg.1_Missense_Mutation_p.T262I|SLC44A2_uc002mph.3_Missense_Mutation_p.T91I|SLC44A2_uc002mpi.3_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	542					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGCCTCATGACCTGTCTCAAA	0.527												
ZNF709	163051	broad.mit.edu	37	19	12575471	12575471	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:12575471C>T	uc002mtv.4	-	3	1426	c.1265G>A	c.(1264-1266)tGt>tAt	p.C422Y	ZNF709_uc002mtw.4_Missense_Mutation_p.C390Y|ZNF709_uc002mtx.4_Missense_Mutation_p.C422Y	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTGTTTACATTCATGGGG	0.408												
ZNF570	148268	broad.mit.edu	37	19	37975633	37975633	+	Missense_Mutation	SNP	G	G	A	rs146360083		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:37975633G>A	uc010efl.1	+	5	1396	c.1277G>A	c.(1276-1278)cGt>cAt	p.R426H	ZNF570_uc002ogk.1_Missense_Mutation_p.R370H|ZNF570_uc010xtr.1_Missense_Mutation_p.R167H	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGCCTTCGTGCATACCTT	0.423												
ARHGAP35	2909	broad.mit.edu	37	19	47422855	47422855	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:47422855A>G	uc010ekv.3	+	0	923	c.923A>G	c.(922-924)tAt>tGt	p.Y308C		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	308	FF 1.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TACCAGGACTATGTCTACCTG	0.502												
LILRA5	353514	broad.mit.edu	37	19	54823844	54823844	+	Silent	SNP	G	G	A	rs143927346	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:54823844G>A	uc002qfe.3	-	1	171	c.51C>T	c.(49-51)gaC>gaT	p.D17D	LILRA5_uc002qff.3_Silent_p.D17D|LILRA5_uc010yev.2_Silent_p.D17D|LILRA5_uc010yew.2_Silent_p.D17D|LILRA5_uc002qfg.1_Silent_p.D17D|LILRA5_uc002qfh.1_Silent_p.D17D	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	17					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCACGGCGTCTCCTCCCA	0.632												
EPAS1	2034	broad.mit.edu	37	2	46609718	46609718	+	Silent	SNP	G	G	A	rs4953362	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:46609718G>A	uc002ruv.3	+	14	2952	c.2442G>A	c.(2440-2442)tcG>tcA	p.S814S	EPAS1_uc002ruw.3_Silent_p.S280S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	814					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCTGTCGTCAGCCCACA	0.607												
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:97869931A>T	uc010yva.2	+	49	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289												
DARS	1615	broad.mit.edu	37	2	136682064	136682074	+	Splice_Site	DEL	GATGTCTAGAA	GATGTCTAGAA	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:136682064_136682074delGATGTCTAGAA	uc002tux.1	-	8	749	c.565_splice	c.e8-1	p.T189_splice	DARS_uc010fnj.1_Splice_Site_p.T89_splice	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	189					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTGACTAGTTGATGTCTAGAAGACAGTAATA	0.374												
THSD7B	80731	broad.mit.edu	37	2	138373761	138373761	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:138373761C>T	uc002tva.1	+	16	3350	c.3350C>T	c.(3349-3351)aCa>aTa	p.T1117I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCCCACACAATGCAGAGA	0.418												
FAP	2191	broad.mit.edu	37	2	163074520	163074520	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:163074520T>A	uc002ucd.3	-	8	946	c.738A>T	c.(736-738)agA>agT	p.R246S	FAP_uc010zct.2_Missense_Mutation_p.R221S|FAP_uc010fpe.1_Missense_Mutation_p.R213S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	246					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P245L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTTATTGTTCTAGGATATT	0.353												
DHRS9	10170	broad.mit.edu	37	2	169939876	169939876	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:169939876C>T	uc010zdc.2	+	2	643	c.531C>T	c.(529-531)ggC>ggT	p.G177G	DHRS9_uc002uep.3_Silent_p.G117G|DHRS9_uc002ueq.3_Silent_p.G117G|DHRS9_uc010zdd.2_Silent_p.G117G|DHRS9_uc010zde.2_Silent_p.G117G	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	117					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTGTTCCCGGCGTGCTGGCTC	0.468												
TTN	7273	broad.mit.edu	37	2	179599471	179599471	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:179599471G>A	uc021vsy.1	-	47	11673	c.11448C>T	c.(11446-11448)gtC>gtT	p.V3816V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V477V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4743							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V3816V(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)			TATCACTGCCGACGTCATTCA	0.363												
DGKD	8527	broad.mit.edu	37	2	234363420	234363420	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:234363420C>G	uc002vui.1	+	18	2288	c.2276C>G	c.(2275-2277)aCg>aGg	p.T759R	DGKD_uc002vuj.1_Missense_Mutation_p.T715R|DGKD_uc010fyh.1_Missense_Mutation_p.T626R|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	759					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGTATTACACGGAGAAATGT	0.453												
PCSK2	5126	broad.mit.edu	37	20	17446060	17446060	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:17446060G>A	uc002wpm.3	+	10	1646	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PCSK2_uc002wpl.3_Missense_Mutation_p.R412H|PCSK2_uc010zrm.2_Missense_Mutation_p.R396H|PCSK2_uc002wpn.3_Missense_Mutation_p.R85H	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	431					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.R431C(1)|p.R430Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGTGGCGGCGCAATGGGGTC	0.567												
SYCP2	10388	broad.mit.edu	37	20	58444912	58444912	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:58444912G>A	uc002yaz.3	-	34	3821	c.3682C>T	c.(3682-3684)Cgg>Tgg	p.R1228W		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1228					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCATAAACCGTTCTTCTGAA	0.294												
KRTAP10-7	386675	broad.mit.edu	37	21	46021295	46021295	+	Silent	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr21:46021295A>C	uc002zfn.4	+	1	784	c.759A>C	c.(757-759)ccA>ccC	p.P253P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	258	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTGCCAGCCAGCTTGCTGCA	0.632												
LZTR1	8216	broad.mit.edu	37	22	21342314	21342314	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:21342314A>C	uc002zto.3	+	4	519	c.416A>C	c.(415-417)gAc>gCc	p.D139A	LZTR1_uc002ztn.3_Missense_Mutation_p.D98A|LZTR1_uc011ahy.2_Missense_Mutation_p.D120A|LZTR1_uc010gsr.1_Missense_Mutation_p.D10A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	139					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACACTGGGGACATTTATTCC	0.453												
MYO18B	84700	broad.mit.edu	37	22	26348345	26348345	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:26348345G>C	uc003abz.1	+	37	6176	c.5926G>C	c.(5926-5928)Gag>Cag	p.E1976Q	MYO18B_uc003aca.1_Missense_Mutation_p.E1857Q|MYO18B_uc010guy.1_Missense_Mutation_p.E1858Q|MYO18B_uc010guz.1_Missense_Mutation_p.E1856Q|MYO18B_uc011aka.1_Missense_Mutation_p.E1130Q|MYO18B_uc011akb.1_Missense_Mutation_p.E1489Q|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1976	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTGACCTAGAGAACAAGAC	0.517												
SMC1B	27127	broad.mit.edu	37	22	45750854	45750854	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:45750854G>C	uc003bgc.3	-	19	3155	c.3103C>G	c.(3103-3105)Caa>Gaa	p.Q1035E	SMC1B_uc003bgd.3_Missense_Mutation_p.Q1035E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1035					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTGGACTCTTGAAACTTGTCT	0.408												
KCNH8	131096	broad.mit.edu	37	3	19574969	19574969	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:19574969C>T	uc003cbk.1	+	15	2897	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	KCNH8_uc010hex.1_Missense_Mutation_p.P362L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	901						integral to membrane	two-component sensor activity	p.S900T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTTCTGTCACCTCAGCAGCCA	0.493												
NBEAL2	23218	broad.mit.edu	37	3	47041686	47041686	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:47041686G>T	uc003cqp.3	+	26	4276	c.4097G>T	c.(4096-4098)gGa>gTa	p.G1366V	NBEAL2_uc010hjm.2_Splice_Site_p.G743_splice|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1366							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)		TCTAGTGTAGGATCAGGCAAC	0.637												
CELSR3	1951	broad.mit.edu	37	3	48685382	48685382	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:48685382G>A	uc003cuf.1	-	21	7231	c.7231C>T	c.(7231-7233)Cgt>Tgt	p.R2411C	CELSR3_uc010hkg.3_Missense_Mutation_p.R324C|CELSR3_uc003cul.3_Missense_Mutation_p.R2341C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2341					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTAGCGACGGGCCCCCCGG	0.632												
DNAJC13	23317	broad.mit.edu	37	3	132217972	132217972	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132217972T>A	uc003eor.3	+	36	4224	c.4159T>A	c.(4159-4161)Tta>Ata	p.L1387I		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1387							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATTTCAGATTTACAGCCTTA	0.328												
NPHP3	84129	broad.mit.edu	37	3	132361623	132361623	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132361623C>A	uc003eov.4	-	2	653	c.273G>T	c.(271-273)caG>caT	p.Q91H		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	511					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAAGGCTTTCTGGACTTTAA	0.323												
ATP11B	23200	broad.mit.edu	37	3	182559871	182559871	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:182559871G>T	uc003flb.3	+	7	922	c.665G>T	c.(664-666)gGa>gTa	p.G222V		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	222					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATTCATGGGACGAATGATC	0.299												
DNAH5	1767	broad.mit.edu	37	5	13717485	13717485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:13717485G>A	uc003jfd.2	-	72	12686	c.12644C>T	c.(12643-12645)gCg>gTg	p.A4215V	DNAH5_uc003jfc.2_Missense_Mutation_p.A383V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4215	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTAAAGTCCGCTTGGTTAAA	0.532									Kartagener syndrome			
C5orf42	65250	broad.mit.edu	37	5	37183582	37183582	+	Silent	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:37183582A>C	uc011cpa.1	-	25	4932	c.4701T>G	c.(4699-4701)ccT>ccG	p.P1567P	C5orf42_uc011coy.1_Silent_p.P68P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P642P|C5orf42_uc011cpb.1_Silent_p.P448P	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1567										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCCTGGAATAAGGTAGGTCTC	0.323												
IRF1	3659	broad.mit.edu	37	5	131821402	131821402	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:131821402G>A	uc003kxa.2	-	7	908	c.674C>T	c.(673-675)aCa>aTa	p.T225I	C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.T225I|IRF1_uc010jdt.2_Missense_Mutation_p.T225I	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	225					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATCCTCATCTGTTGTAGCTGT	0.542												
DSP	1832	broad.mit.edu	37	6	7576571	7576571	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:7576571G>A	uc003mxp.1	+	18	2954	c.2675G>A	c.(2674-2676)cGt>cAt	p.R892H	DSP_uc003mxq.1_Missense_Mutation_p.R892H|DSP_uc021yle.1_Missense_Mutation_p.R892H	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	892	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAATTATCGTGATAACTAT	0.388												
OR10C1	442194	broad.mit.edu	37	6	29408603	29408603	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:29408603C>A	uc011dlp.2	+	0	888	c.811C>A	c.(811-813)Cct>Act	p.P271T	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCACTGACCCTCTGGTGTC	0.552												
ZNF318	24149	broad.mit.edu	37	6	43308071	43308072	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:43308071_43308072delTC	uc003oux.3	-	9	3742_3743	c.3664_3665delGA	c.(3664-3666)gaafs	p.E1222fs	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1222	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCTTTACTTCTTTCACAGCC	0.450												
FILIP1	27145	broad.mit.edu	37	6	76023523	76023523	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:76023523G>C	uc010kbe.3	-	5	2564	c.2034C>G	c.(2032-2034)aaC>aaG	p.N678K	FILIP1_uc003phy.1_Missense_Mutation_p.N675K|FILIP1_uc003phz.3_Missense_Mutation_p.N576K|FILIP1_uc003pia.3_Missense_Mutation_p.N675K|FILIP1_uc003pib.1_Missense_Mutation_p.N427K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	675								p.S678S(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAGAGGAAGTTAGCCTTAT	0.438												
SDK1	221935	broad.mit.edu	37	7	4050626	4050626	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:4050626C>T	uc003smx.3	+	14	2299	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N	SDK1_uc010kso.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	720	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCTGTCAAACGTTGGCCCTG	0.512												
PCLO	27445	broad.mit.edu	37	7	82579889	82579889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82579889C>A	uc003uhx.2	-	5	10304	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	PCLO_uc003uhv.2_Missense_Mutation_p.G3339C|PCLO_uc010lec.3_Missense_Mutation_p.G304C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATACTGACCTTCCAAAATT	0.478												
PCLO	27445	broad.mit.edu	37	7	82784328	82784328	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82784328C>T	uc003uhx.2	-	1	1918	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	PCLO_uc003uhv.2_Silent_p.Q543Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	489	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGGCTAGGCTGTTGAGCTG	0.547												
ABCB4	5244	broad.mit.edu	37	7	87049323	87049323	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:87049323C>T	uc003uiv.1	-	18	2461	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	ABCB4_uc003uiw.1_Missense_Mutation_p.M795I|ABCB4_uc003uix.1_Missense_Mutation_p.M795I	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	795	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTGTCTTAGCATTGCTTTAA	0.428												
PIK3CG	5294	broad.mit.edu	37	7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:106523501G>A	uc003vdv.4	+	7	2738	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	PIK3CG_uc003vdu.3_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A885T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	885	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGAAAGACGCCACGACAAT	0.478												
ZNF282	8427	broad.mit.edu	37	7	148909483	148909483	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:148909483G>A	uc003wfm.3	+	5	1091	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	ZNF282_uc011kun.1_Missense_Mutation_p.R329Q|ZNF282_uc003wfn.3_Missense_Mutation_p.R269Q|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	329					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCTTGTCCCGGATTAAACAG	0.498												
NCOA2	10499	broad.mit.edu	37	8	71057069	71057069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:71057069G>A	uc003xyn.1	-	12	2782	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	874					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGTCGTGGGTTATTA	0.388			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""							
PHF20L1	51105	broad.mit.edu	37	8	133806658	133806658	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:133806658A>G	uc003ytt.3	+	2	411	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	PHF20L1_uc003ytr.3_Missense_Mutation_p.Y29C|PHF20L1_uc010mdv.3_Missense_Mutation_p.Y29C|PHF20L1_uc003yts.3_Missense_Mutation_p.Y29C|PHF20L1_uc011lja.2_Missense_Mutation_p.Y29C|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	29	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTTTGAGGTATCCATCACGA	0.338												
SECISBP2	79048	broad.mit.edu	37	9	91973081	91973081	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:91973081G>A	uc004aqj.1	+	15	2516	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	SECISBP2_uc010mqo.1_Silent_p.L517L|SECISBP2_uc004aqk.1_Silent_p.L739L|SECISBP2_uc011ltk.1_Silent_p.L811L|SECISBP2_uc011ltl.1_Silent_p.L744L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	812					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCCCAGCCCTGAAAGAAAAAG	0.562												
LAMC3	10319	broad.mit.edu	37	9	133927934	133927934	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:133927934C>T	uc004caa.1	+	9	1785	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	563	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity	p.F562S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACTGACCTTCCGGGTGCCCCC	0.597											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DCAF12L2	340578	broad.mit.edu	37	X	125299442	125299442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrX:125299442C>T	uc004euk.2	-	0	639	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	156								p.E156K(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGATTCAGCTCGATGGCATGG	0.682												
PCDH11Y	83259	broad.mit.edu	37	Y	5605925	5605925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrY:5605925G>A	uc004fqo.3	+	4	4699	c.3965G>A	c.(3964-3966)cGc>cAc	p.R1322H	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1322					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCGCTCCACGCCAACAGGCC	0.408												
