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
LOC440563	440563	broad.mit.edu	37	1	13183032	13183032	+	Missense_Mutation	SNP	C	C	T	rs55971446	by1000genomes	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:13183032C>T	uc010obg.2	-	1	1084	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	281						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTGTTATCCTCTCCTTCCTCA	0.443												
PADI6	353238	broad.mit.edu	37	1	17721458	17721458	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:17721458G>A	uc001bak.1	+	12	1349	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	442					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGAGGGCCGGGCCATGAGT	0.602												
KIAA0090	23065	broad.mit.edu	37	1	19546124	19546124	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:19546124T>C	uc001bbo.3	-	21	2784	c.2741A>G	c.(2740-2742)cAg>cGg	p.Q914R	KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.3_Missense_Mutation_p.Q892R	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	914	DUF1620.					integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		AGAAACTGTCTGGTTATAGTT	0.507												
KIF17	57576	broad.mit.edu	37	1	20992723	20992723	+	Silent	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:20992723G>A	uc001bdr.4	-	13	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_uc001bdp.4_Silent_p.D242D|KIF17_uc009vpx.3_Silent_p.D335D|KIF17_uc001bds.4_Silent_p.D964D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577												
NR0B2	8431	broad.mit.edu	37	1	27240176	27240176	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:27240176G>A	uc001bnf.3	-	0	392	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	86	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCAGCCGCCGCTGGTCC	0.642												
NBPF10	400818	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	-	AG	rs10625215		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:144615246_144615247insAG	uc009wig.1	+	2	308	c.114_splice	c.e2+2	p.L38_splice	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	38										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTAAACCTCAAAGAGATGTTTT	0.470												
TNR	7143	broad.mit.edu	37	1	175372637	175372637	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:175372637C>T	uc001gkp.1	-	1	696	c.615G>A	c.(613-615)ccG>ccA	p.P205P	TNR_uc009wwu.1_Silent_p.P205P|TNR_uc010pmz.1_Silent_p.P205P	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	205	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCAACCCAGCGGGCAGTAGG	0.597												
CFH	10877	broad.mit.edu	37	1	196871608	196871608	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:196871608G>A	uc001gtp.3	+	1	256	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.R39H|CFH_uc001gto.3_Missense_Mutation_p.R40H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	341	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAGAGTTTGCGTAGACTATAC	0.323												
NAALADL1	10004	broad.mit.edu	37	11	64825878	64825878	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:64825878T>A	uc001ocn.3	-	0	132	c.116A>T	c.(115-117)gAc>gTc	p.D39V	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	39					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGGTCCAGGTCCTGGGGGGC	0.637												
SART1	9092	broad.mit.edu	37	11	65743897	65743897	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:65743897G>A	uc001ogl.3	+	12	1696	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	535					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGGAGTCTCGCCAGCGGGGC	0.637												
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:11546320_11546322delTTG	uc010shk.1	-	2	725_727	c.690_692delCAA	c.(688-693)aacaag>aag	p.N230del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601												
SLC38A1	81539	broad.mit.edu	37	12	46594885	46594885	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:46594885G>C	uc009zkj.1	-	12	1684	c.999C>G	c.(997-999)ttC>ttG	p.F333L	SLC38A1_uc001rpb.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpc.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpd.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpe.3_Missense_Mutation_p.F333L|SLC38A1_uc010slh.2_Missense_Mutation_p.F306L|SLC38A1_uc001rpa.3_Missense_Mutation_p.F333L	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	333					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACTTACCATAGAATGTCAAGT	0.299												
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:55688832C>T	uc010sph.2	-	0	185	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L61I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388												
APPL2	55198	broad.mit.edu	37	12	105600948	105600948	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:105600948C>T	uc010swu.1	-	7	748	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	APPL2_uc010swt.2_Missense_Mutation_p.R128Q|APPL2_uc001tlf.1_Missense_Mutation_p.R171Q|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Missense_Mutation_p.R128Q	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	171	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGCTTCCGCCGGGCCGCGGC	0.522												
GZMB	3002	broad.mit.edu	37	14	25100297	25100297	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:25100297T>C	uc001wps.2	-	4	790	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E	GZMB_uc010ama.2_Missense_Mutation_p.K230E|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	242	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTCATGGTTTTCTTTATCCAG	0.493												
ESRRB	2103	broad.mit.edu	37	14	76957925	76957925	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:76957925A>C	uc001xsr.3	+	7	1294	c.923A>C	c.(922-924)gAt>gCt	p.D308A	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.D308A	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TACATCATGGATGAGGAGCAC	0.592												
KCNK13	56659	broad.mit.edu	37	14	90528848	90528848	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:90528848C>T	uc001xye.1	+	0	741	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	100						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTCACCGGCGCCTTCTACTTC	0.692												
FOXN1	8456	broad.mit.edu	37	17	26862064	26862064	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:26862064C>G	uc010crm.3	+	7	1673	c.1475C>G	c.(1474-1476)cCt>cGt	p.P492R	FOXN1_uc002hbj.3_Missense_Mutation_p.P492R	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	492					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGGACTCGCCTCTGCCTGCC	0.687												
HOXB13	10481	broad.mit.edu	37	17	46805737	46805737	+	Silent	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:46805737C>A	uc002ioa.3	-	0	375	c.219G>T	c.(217-219)acG>acT	p.T73T		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	73					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GAGCTGGGGACGTCCCCTGGG	0.652												
RNF213	57674	broad.mit.edu	37	17	78262155	78262155	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:78262155C>G	uc002jyh.2	+	4	1093	c.950C>G	c.(949-951)gCc>gGc	p.A317G	RNF213_uc002jyf.3_Missense_Mutation_p.A268G|RNF213_uc021uen.1_Missense_Mutation_p.A268G|RNF213_uc002jyg.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	268										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCCTCAGCCTCTATGGTG	0.642												
C18orf62	284274	broad.mit.edu	37	18	73139434	73139434	+	Missense_Mutation	SNP	G	G	A	rs142533881		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr18:73139434G>A	uc002lma.1	-	0	156	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	C18orf62_uc010dqw.1_Non-coding_Transcript|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	29						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		TTGAATATCCGTCCCATTCCT	0.498												
FAM187B	148109	broad.mit.edu	37	19	35718884	35718884	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:35718884A>T	uc002nyk.1	-	0	745	c.700T>A	c.(700-702)Tgt>Agt	p.C234S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	234						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCTAAGGGACAGTCGAGCCAC	0.507												
ZIM3	114026	broad.mit.edu	37	19	57647409	57647409	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:57647409C>G	uc002qnz.1	-	4	682	c.296G>C	c.(295-297)aGt>aCt	p.S99T		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGCGAGACTCTCTTTCAC	0.408												
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	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												
RGPD3	653489	broad.mit.edu	37	2	107049596	107049596	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:107049596G>C	uc010ywi.1	-	15	2408	c.2351C>G	c.(2350-2352)aCc>aGc	p.T784S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	784					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGAATATTTGGTAGGAGATGG	0.338												
CNTNAP5	129684	broad.mit.edu	37	2	125405459	125405459	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:125405459C>T	uc010flu.3	+	12	2365	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	CNTNAP5_uc002tno.3_Silent_p.A666A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	666	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCTGGAGGCCGTGATCGACG	0.622												
THSD7B	80731	broad.mit.edu	37	2	138033556	138033556	+	Silent	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:138033556G>A	uc002tva.1	+	10	2367	c.2367G>A	c.(2365-2367)acG>acA	p.T789T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T679T	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)		AGGGAATAACGGGCAGCAGTG	0.398												
NEB	4703	broad.mit.edu	37	2	152425820	152425820	+	Missense_Mutation	SNP	C	C	T	rs149881695	by1000genomes	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:152425820C>T	uc021vrb.1	-	80	12423	c.12394G>A	c.(12394-12396)Gtc>Atc	p.V4132I	NEB_uc002txr.3_Missense_Mutation_p.V598I|NEB_uc002txu.3_Missense_Mutation_p.V5833I|NEB_uc021vrc.1_Missense_Mutation_p.V5833I|NEB_uc010fnx.3_Missense_Mutation_p.V4120I|NEB_uc021vrd.1_Missense_Mutation_p.V4132I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4132					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCATGATTGACGGACACGGAG	0.458												
COBLL1	22837	broad.mit.edu	37	2	165551266	165551266	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:165551266T>C	uc002ucp.3	-	11	2972	c.2750A>G	c.(2749-2751)tAt>tGt	p.Y917C	COBLL1_uc002ucq.3_Missense_Mutation_p.Y879C|COBLL1_uc010zcw.2_Missense_Mutation_p.Y984C|COBLL1_uc010zcx.2_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.3_Missense_Mutation_p.Y345C|COBLL1_uc002uco.3_Missense_Mutation_p.Y648C	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	955										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATGTCACATAGTGACCCGA	0.448												
TTN	7273	broad.mit.edu	37	2	179454479	179454479	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179454479G>A	uc021vsy.1	-	252	54494	c.54269C>T	c.(54268-54270)aCt>aTt	p.T18090I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11785I|TTN_uc021vta.1_Missense_Mutation_p.T11718I|TTN_uc021vtb.1_Missense_Mutation_p.T11593I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19017	Fibronectin type-III 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CAGAATGGGAGTTTTTGTTTC	0.413												
CCDC141	285025	broad.mit.edu	37	2	179730518	179730518	+	Silent	SNP	G	G	A	rs144206841		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179730518G>A	uc002une.2	-	16	2818	c.2700C>T	c.(2698-2700)tgC>tgT	p.C900C	CCDC141_uc002unf.1_Silent_p.C379C	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	325							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTCATGGCGCAGTACTCCA	0.532												
NEU2	4759	broad.mit.edu	37	2	233899574	233899574	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:233899574C>T	uc010zmn.2	+	1	950	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	317							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGACCTCCAGCCCCTGAGGCC	0.672												
ANO7	50636	broad.mit.edu	37	2	242149970	242149970	+	Missense_Mutation	SNP	G	G	A	rs148576854		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:242149970G>A	uc002wax.2	+	14	1811	c.1708G>A	c.(1708-1710)Gtc>Atc	p.V570I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	570						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCCACGTCCTGACACG	0.622												
HNF4A	3172	broad.mit.edu	37	20	43048412	43048412	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43048412G>A	uc002xma.3	+	6	877	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	HNF4A_uc002xlt.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlu.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlv.3_Missense_Mutation_p.R241Q|HNF4A_uc002xly.3_Missense_Mutation_p.R263Q|HNF4A_uc010ggq.3_Missense_Mutation_p.R256Q|HNF4A_uc002xlz.3_Missense_Mutation_p.R263Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	263					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATGAGCCGGGTGTCCATA	0.572												
PABPC1L	80336	broad.mit.edu	37	20	43545422	43545422	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43545422G>A	uc010ggv.1	+	2	495	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	PABPC1L_uc010zwq.1_Non-coding_Transcript	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	138	RRM 2.						nucleotide binding|RNA binding	p.R138R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CATGGCTCCCGGGGTTTCGGC	0.557												
RBPJL	11317	broad.mit.edu	37	20	43938206	43938206	+	Splice_Site	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43938206G>T	uc002xns.3	+	3	204	c.132_splice	c.e3-1	p.R44_splice	MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.3_Splice_Site_p.R44_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	44					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTACTCCCAGGTCATCCCCA	0.607												
OGG1	4968	broad.mit.edu	37	3	9798237	9798237	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:9798237G>A	uc003bsi.3	+	4	1173	c.830G>A	c.(829-831)cGt>cAt	p.R277H	OGG1_uc003bsj.3_Missense_Mutation_p.R277H|OGG1_uc003bsh.3_Missense_Mutation_p.R277H|OGG1_uc003bsl.3_Missense_Mutation_p.R277H|OGG1_uc003bsk.3_Missense_Mutation_p.R277H|OGG1_uc003bsm.3_Missense_Mutation_p.R277H|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.R42H|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Missense_Mutation_p.R42H	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	277					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATTGCCCAACGTGACTACAGC	0.602								Base excision repair (BER), DNA glycosylases				
NKIRAS1	28512	broad.mit.edu	37	3	23942514	23942514	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:23942514C>A	uc003ccj.3	-	3	523	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	NKIRAS1_uc003cck.3_Missense_Mutation_p.D41Y	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	41					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ATGTATACATCTTCCATTGTT	0.413												
ACTR8	93973	broad.mit.edu	37	3	53909976	53909976	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:53909976G>A	uc003dhd.3	-	7	1012	c.911_splice	c.e7+1	p.R304_splice	ACTR8_uc003dhb.3_Splice_Site_p.R54_splice|ACTR8_uc003dhc.3_Splice_Site_p.R193_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	304					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GTTCCTTACCGAGTATTCCGA	0.433												
EPHA6	285220	broad.mit.edu	37	3	97167503	97167503	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:97167503A>T	uc010how.1	+	6	1866	c.1823A>T	c.(1822-1824)cAc>cTc	p.H608L	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	513						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGTATTTCACATCCGAGTG	0.448												
MORC1	27136	broad.mit.edu	37	3	108698509	108698509	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:108698509A>T	uc003dxl.3	-	23	2417	c.2330T>A	c.(2329-2331)cTc>cAc	p.L777H	MORC1_uc011bhn.2_Missense_Mutation_p.L756H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	777					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CGGCACATTGAGCAAGCTGAG	0.368												
UGT2A3	79799	broad.mit.edu	37	4	69796959	69796959	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:69796959A>C	uc003hef.2	-	4	1028	c.997_splice	c.e4-1	p.V333_splice	UGT2A3_uc010ihp.1_Splice_Site	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	333						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTCCATAACACCTACGGAAG	0.373												
DDX60	55601	broad.mit.edu	37	4	169196591	169196591	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:169196591G>A	uc003irp.3	-	15	2501	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	737							ATP binding|ATP-dependent helicase activity|RNA binding	p.R737W(3)|p.R737Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGGAACCGAGCTGGCCCA	0.393												
KCNQ5	56479	broad.mit.edu	37	6	73713705	73713705	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:73713705G>T	uc011dyh.2	+	1	820	c.473G>T	c.(472-474)aGt>aTt	p.S158I	KCNQ5_uc003pgj.4_Missense_Mutation_p.S158I|KCNQ5_uc011dyi.2_Missense_Mutation_p.S158I|KCNQ5_uc010kat.3_Missense_Mutation_p.S158I|KCNQ5_uc003pgk.3_Missense_Mutation_p.S158I|KCNQ5_uc011dyj.2_Missense_Mutation_p.S158I|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	158					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGGCCTCAAGTTGCCTCTTG	0.358												
COL12A1	1303	broad.mit.edu	37	6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:75858174C>T	uc021zbv.1	-	20	4222	c.4187G>A	c.(4186-4188)cGa>cAa	p.R1396Q	COL12A1_uc021zbw.1_Missense_Mutation_p.R232Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1396Q|COL12A1_uc003pht.3_Missense_Mutation_p.R232Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1396	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGATGGGTTCGCTCAGAAAT	0.398												
BVES	11149	broad.mit.edu	37	6	105573416	105573416	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:105573416C>T	uc003pqw.3	-	3	546	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	BVES_uc003pqx.3_Missense_Mutation_p.R130Q|BVES_uc003pqy.3_Missense_Mutation_p.R130Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	130					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCAAACAATCGCCGGTACAT	0.443												
T	6862	broad.mit.edu	37	6	166571970	166571970	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:166571970C>T	uc003qut.1	-	7	1430	c.1144G>A	c.(1144-1146)Gcg>Acg	p.A382T	T_uc003quu.1_Missense_Mutation_p.A381T|T_uc003quv.1_Missense_Mutation_p.A323T	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	381					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A381T(2)|p.A381E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGTAGTGCGCGGGGGAGCCC	0.711									Chordoma, Familial Clustering of			
FERD3L	222894	broad.mit.edu	37	7	19184907	19184907	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:19184907G>A	uc003suo.1	-	0	138	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	27					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGAGAGGGCGTCTCGGGGAG	0.677												
UPP1	7378	broad.mit.edu	37	7	48139333	48139333	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48139333C>A	uc003toj.3	+	4	640	c.111C>A	c.(109-111)ttC>ttA	p.F37L	UPP1_uc003tok.3_Missense_Mutation_p.F37L|UPP1_uc003tol.3_Missense_Mutation_p.F37L|UPP1_uc011kcg.1_Missense_Mutation_p.F37L|UPP1_uc011kch.2_Intron|UPP1_uc003ton.3_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	37					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TCTATCATTTCAATCTCACCA	0.393												
UPP1	7378	broad.mit.edu	37	7	48146585	48146585	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48146585G>T	uc003toj.3	+	7	1081	c.552G>T	c.(550-552)aaG>aaT	p.K184N	UPP1_uc003tok.3_Missense_Mutation_p.K184N|UPP1_uc003tol.3_Missense_Mutation_p.K184N|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Missense_Mutation_p.K47N	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	184					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						ACCTTAACAAGAAGCTGGTGC	0.537												
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
FZD1	8321	broad.mit.edu	37	7	90894669	90894669	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:90894669A>T	uc003ula.3	+	0	887	c.474A>T	c.(472-474)aaA>aaT	p.K158N		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	158	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTCTAGTGAAAGTGCAGTGTT	0.632												
MUC17	140453	broad.mit.edu	37	7	100685376	100685376	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:100685376C>G	uc003uxp.1	+	2	10732	c.10679C>G	c.(10678-10680)aCt>aGt	p.T3560S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3560	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCCAGCAACTCTTCAGGTC	0.478												
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:137263039G>A	uc003vtt.3	-	15	1676	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338												
PSD3	23362	broad.mit.edu	37	8	18432725	18432725	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:18432725A>G	uc003wza.3	-	12	2655	c.2552T>C	c.(2551-2553)tTg>tCg	p.L851S	PSD3_uc003wyx.4_Missense_Mutation_p.L180S|PSD3_uc003wyy.3_Missense_Mutation_p.L317S|PSD3_uc003wyz.3_Missense_Mutation_p.L152S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	852	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTGGATGCCAATGCGTGGTG	0.428												
LGI3	203190	broad.mit.edu	37	8	22006477	22006477	+	Silent	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:22006477C>A	uc003xav.3	-	7	1132	c.843G>T	c.(841-843)gtG>gtT	p.V281V	LGI3_uc010ltu.3_Silent_p.V257V	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	281					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCTTGCAGTGCACTGCAGAGG	0.627												
SNAI2	6591	broad.mit.edu	37	8	49831516	49831516	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:49831516G>T	uc003xqp.3	-	2	832	c.657C>A	c.(655-657)aaC>aaA	p.N219K		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	219					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAAATGCTCTGTTGCAGTGAG	0.433												
ZFHX4	79776	broad.mit.edu	37	8	77763369	77763369	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:77763369G>C	uc003yau.2	+	9	4599	c.4212G>C	c.(4210-4212)ttG>ttC	p.L1404F	ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTGTAGCTTGGCTTTCAAAA	0.453										HNSCC(33;0.089)		
LRP12	29967	broad.mit.edu	37	8	105503293	105503293	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:105503293G>C	uc003yma.3	-	6	2315	c.2188C>G	c.(2188-2190)Ctc>Gtc	p.L730V	LRP12_uc003ymb.3_Missense_Mutation_p.L711V|LRP12_uc003ylz.3_Missense_Mutation_p.L136V	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	730					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACGACTGAGTGCACTTGTA	0.493												
NFX1	4799	broad.mit.edu	37	9	33351731	33351731	+	Silent	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:33351731G>A	uc003zsr.3	+	15	2754	c.2601G>A	c.(2599-2601)ccG>ccA	p.P867P	NFX1_uc003zsp.2_Silent_p.P866P|NFX1_uc010mjr.2_Silent_p.P867P|NFX1_uc003zsq.3_Silent_p.P866P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	866					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGGTCACCCGTGTATGGCAC	0.552												
ANKRD20A3	441425	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:67934791_67934794delAAAG	uc004aeu.3	+	3	673_676	c.561_564delAAAG	c.(559-564)aaaaagfs	p.K187fs	ANKRD20A3_uc010mnn.3_Frame_Shift_Del_p.K187fs	NM_001012419	NP_115626	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	187																	TTTTATTGAAAAAGAAAGCAAGTT	0.309												
VPS13A	23230	broad.mit.edu	37	9	79867155	79867155	+	Silent	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:79867155T>C	uc004akr.3	+	21	2435	c.2175T>C	c.(2173-2175)gaT>gaC	p.D725D	VPS13A_uc004akp.4_Silent_p.D725D|VPS13A_uc004akq.4_Silent_p.D725D|VPS13A_uc004aks.3_Silent_p.D725D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	725					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTTAGGTGATAATTGGAGAG	0.343												
TMEM246	84302	broad.mit.edu	37	9	104239089	104239089	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:104239089C>A	uc004bbm.3	-	1	608	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.A96S	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	96						integral to membrane											CGGGGGGTGGCCTGCCAGACA	0.592												
NUP214	8021	broad.mit.edu	37	9	134022964	134022964	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:134022964C>G	uc004cag.3	+	13	2144	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	NUP214_uc004cah.3_Missense_Mutation_p.S668C|NUP214_uc004cai.3_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.3_Intron	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	678	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAGCCAGGCTCTCCCCAGGTA	0.433			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
SSX1	6756	broad.mit.edu	37	X	48118025	48118025	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:48118025A>T	uc004djb.1	+	3	330	c.239A>T	c.(238-240)cAg>cTg	p.Q80L		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	80	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						ACAGACTTCCAGGGGAATGAT	0.448			T	SS18	synovial sarcoma							
FOXP3	50943	broad.mit.edu	37	X	49113238	49113238	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:49113238T>A	uc004dnf.4	-	5	805	c.617A>T	c.(616-618)aAg>aTg	p.K206M	FOXP3_uc011mnb.2_Missense_Mutation_p.K229M|FOXP3_uc011mnc.2_Missense_Mutation_p.K206M|FOXP3_uc004dne.4_Missense_Mutation_p.K171M|FOXP3_uc022bwa.1_Missense_Mutation_p.K156M	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	206					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TTCGAAGACCTTCTCACATCC	0.617												
HUWE1	10075	broad.mit.edu	37	X	53590731	53590731	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:53590731C>T	uc004dsp.3	-	51	7483	c.7081G>A	c.(7081-7083)Gga>Aga	p.G2361R	HUWE1_uc004dsn.3_Missense_Mutation_p.G1185R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2361	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.G2224R(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCCAGATCCGCCATCCCTC	0.453												
AWAT2	158835	broad.mit.edu	37	X	69261810	69261810	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69261810C>T	uc004dxt.1	-	6	856	c.850G>A	c.(850-852)Ggg>Agg	p.G284R		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	284						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AGAGGCTCCCCGACTGCCAGG	0.502												
OTUD6A	139562	broad.mit.edu	37	X	69282974	69282974	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69282974C>T	uc004dxu.1	+	0	634	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	200	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTCGGCTACGACGACTTCA	0.622												
P2RY10	27334	broad.mit.edu	37	X	78216461	78216461	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:78216461C>T	uc022bzl.1	+	0	444	c.444C>T	c.(442-444)taC>taT	p.Y148Y	P2RY10_uc004ede.3_Silent_p.Y148Y|P2RY10_uc004edf.3_Silent_p.Y148Y	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	148						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Y148Y(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGCGTAGGTACGATGTGGGCA	0.498