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
NOC2L	26155	broad.mit.edu	37	1	887446	887446	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:887446G>A	uc009vjq.3	-	10	1324	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	NOC2L_uc001aby.4_Missense_Mutation_p.A219V|NOC2L_uc001abz.4_Missense_Mutation_p.A422V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	422						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGGGGCCCGCAGTGCTCAG	0.592												
PRDM16	63976	broad.mit.edu	37	1	3328828	3328828	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:3328828C>T	uc001akf.3	+	8	2149	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	PRDM16_uc001ake.3_Silent_p.A689A|PRDM16_uc009vlh.3_Silent_p.A390A|PRDM16_uc001akc.3_Silent_p.A689A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	689	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGGCGCCGCCGGGGACTCCA	0.642			T	EVI1	"""MDS, AML"""							
GPR153	387509	broad.mit.edu	37	1	6314021	6314021	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:6314021G>A	uc001amp.2	-	2	803	c.543C>T	c.(541-543)ggC>ggT	p.G181G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	181						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCACGCTGCCGCCCACCAGCA	0.692												
CLCN6	1185	broad.mit.edu	37	1	11893604	11893605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:11893604_11893605insT	uc001ate.4	+	13	1394_1395	c.1281_1282insT	c.(1279-1284)acatttfs	p.T427fs	CLCN6_uc010oat.2_Frame_Shift_Ins_p.T143fs|CLCN6_uc010oau.2_Frame_Shift_Ins_p.T405fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	427					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATCAAGACATTTTTTTGTCC	0.455												
DNAJC16	23341	broad.mit.edu	37	1	15870908	15870908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:15870908G>A	uc001aws.3	+	4	709	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	DNAJC16_uc001awr.1_Missense_Mutation_p.V197M|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	197	Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGAATTGGCGTGGTCCATGC	0.463												
NUDC	10726	broad.mit.edu	37	1	27268025	27268025	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:27268025C>T	uc001bng.1	+	2	353	c.237C>T	c.(235-237)gcC>gcT	p.A79A	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	79					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCAGGAGGCCGAGCGGCGGG	0.617												
EPS15	2060	broad.mit.edu	37	1	51829678	51829678	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:51829678C>T	uc001csq.1	-	22	2311	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	EPS15_uc009vyz.1_Missense_Mutation_p.R606H|EPS15_uc001csp.3_Missense_Mutation_p.R426H	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	740	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTGGCTGAACGAAAAGGATC	0.388			T	MLL	ALL							
LRIF1	55791	broad.mit.edu	37	1	111490908	111490908	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111490908G>A	uc001eaa.3	-	3	2239	c.1983C>T	c.(1981-1983)acC>acT	p.T661T	LRIF1_uc001dzz.3_Silent_p.T125T|LRIF1_uc001eab.3_Silent_p.T125T	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTTGGGAACCGGTGACATTAG	0.368												
DENND2D	79961	broad.mit.edu	37	1	111730833	111730833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111730833C>T	uc001eak.1	-	10	1459	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND2D_uc001eal.1_Missense_Mutation_p.R417Q	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	420	dDENN.							p.R420Q(2)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTTCACAAATCGGCGGTTGGT	0.498												
VANGL1	81839	broad.mit.edu	37	1	116226676	116226676	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:116226676G>A	uc001efv.1	+	5	1329	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	VANGL1_uc009wgy.1_Missense_Mutation_p.R351Q|VANGL1_uc021ose.1_Missense_Mutation_p.R353Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	353					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATGAACGGCGAGTAAAGAAG	0.438												
NOTCH2NL	388677	broad.mit.edu	37	1	145273241	145273241	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:145273241A>G	uc001emn.4	+	2	465	c.95A>G	c.(94-96)aAc>aGc	p.N32S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.N32S|NOTCH2NL_uc001emo.2_Missense_Mutation_p.N32S|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	32	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTGAGAAGAACCGCTGCCAG	0.532												
CHD1L	9557	broad.mit.edu	37	1	146766154	146766154	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:146766154G>A	uc001epm.4	+	21	2633	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	CHD1L_uc001epn.4_Missense_Mutation_p.R744Q|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.R763Q|CHD1L_uc010ozp.2_Missense_Mutation_p.R576Q|CHD1L_uc001epo.4_Missense_Mutation_p.R653Q|CHD1L_uc009wji.3_Missense_Mutation_p.R576Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	857	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GGTACTGAGCGACTTATTCGG	0.423												
INSRR	3645	broad.mit.edu	37	1	156823811	156823811	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:156823811G>A	uc010pht.2	-	1	669	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.R124C	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	124					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACGTCACGCAGATGTGGC	0.622												
CD84	8832	broad.mit.edu	37	1	160535290	160535290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:160535290C>T	uc001fwh.4	-	1	371	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CD84_uc001fwf.4_Missense_Mutation_p.D98N|CD84_uc009wtn.3_Missense_Mutation_p.D98N|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.D98N|CD84_uc001fwj.3_Missense_Mutation_p.D98N|CD84_uc001fwk.3_Missense_Mutation_p.D98N	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	98					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCCTCAGATCGCTAATGACC	0.463												
BLZF1	8548	broad.mit.edu	37	1	169347745	169347745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:169347745C>T	uc001gfx.2	+	3	1083	c.646C>T	c.(646-648)Cga>Tga	p.R216*	BLZF1_uc001gfy.3_Nonsense_Mutation_p.R216*|BLZF1_uc009wvp.1_Nonsense_Mutation_p.R193*	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	216					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	p.R216*(4)|p.R216Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TGATGTATGGCGAAGTAAATT	0.363												
CENPF	1063	broad.mit.edu	37	1	214837072	214837072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:214837072C>T	uc001hkm.3	+	19	9454	c.9280C>T	c.(9280-9282)Cga>Tga	p.R3094*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	3190	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAGCGAGGCCGACTTGTCCC	0.582												
GNPAT	8443	broad.mit.edu	37	1	231401503	231401503	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:231401503C>T	uc001hup.4	+	5	948	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GNPAT_uc009xfo.1_Missense_Mutation_p.R139C|GNPAT_uc009xfp.3_Missense_Mutation_p.R187C	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	248					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GACAAGAAGCCGCTCTGCCAA	0.378												
RYR2	6262	broad.mit.edu	37	1	237729890	237729890	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:237729890G>A	uc001hyl.1	+	27	3358	c.3238G>A	c.(3238-3240)Ggc>Agc	p.G1080S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1080	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T1079T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGTGCAGCGGCACCGGGGA	0.502												
WDR64	128025	broad.mit.edu	37	1	241946599	241946599	+	Missense_Mutation	SNP	G	G	A	rs141496101	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:241946599G>A	uc001hzg.2	+	21	2798	c.2591G>A	c.(2590-2592)cGt>cAt	p.R864H	WDR64_uc021plh.1_Missense_Mutation_p.R491H|WDR64_uc021pli.1_Missense_Mutation_p.R417H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	864										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTTCCTGGCGTGCTCATTCT	0.373												
MYO3A	53904	broad.mit.edu	37	10	26243811	26243811	+	Silent	SNP	C	C	T	rs139958275	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:26243811C>T	uc001isn.2	+	3	537	c.177C>T	c.(175-177)gaC>gaT	p.D59D	MYO3A_uc009xko.1_Silent_p.D59D|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.D59D|MYO3A_uc001ism.2_Silent_p.D59D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	59	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGATATTGACGAAGAGATTG	0.313												
HNRNPH3	3189	broad.mit.edu	37	10	70097039	70097039	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:70097039C>T	uc001jnw.4	+	1	290	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	HNRNPH3_uc001jnx.4_Missense_Mutation_p.R21C|HNRNPH3_uc009xpu.3_5'UTR|HNRNPH3_uc010qiv.2_Missense_Mutation_p.R21C|HNRNPH3_uc001jny.4_5'Flank	NM_012207	NP_036339	P31942	HNRH3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H3 (2H9) (HNRNPH3), transcript variant 2H9, mRNA.	21	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AGTACGACTTCGTGGACTACC	0.338												
RGR	5995	broad.mit.edu	37	10	86008738	86008738	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:86008738G>A	uc001kdd.1	+	2	347	c.309G>A	c.(307-309)gcG>gcA	p.A103A	RGR_uc001kdb.1_Missense_Mutation_p.V87I|RGR_uc001kdc.1_Silent_p.A99A|RGR_uc001kde.1_Silent_p.A99A	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	99					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	p.A103A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTGTGACAGCGTTGGCCAGCA	0.637												
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PLCE1	51196	broad.mit.edu	37	10	95995711	95995711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:95995711C>T	uc001kjk.3	+	6	2888	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	PLCE1_uc010qnx.2_Nonsense_Mutation_p.R752*|PLCE1_uc001kjm.3_Nonsense_Mutation_p.R444*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	752	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCTTACAACGAGTGGGACA	0.408												
SORCS1	114815	broad.mit.edu	37	10	108923845	108923845	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:108923845G>T	uc001kyl.3	-	0	622	c.440C>A	c.(439-441)cCg>cAg	p.P147Q	SORCS1_uc021pxw.1_Missense_Mutation_p.P147Q|SORCS1_uc009xxs.3_Missense_Mutation_p.P147Q|SORCS1_uc001kym.3_Missense_Mutation_p.P147Q|SORCS1_uc001kyn.2_Missense_Mutation_p.P147Q|SORCS1_uc001kyo.3_Missense_Mutation_p.P147Q	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	147						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGCTTTGTCCGGGTCCCGCTC	0.652												
SEC23IP	11196	broad.mit.edu	37	10	121663608	121663608	+	Missense_Mutation	SNP	C	C	T	rs147722288	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:121663608C>T	uc001leu.2	+	3	1130	c.920C>T	c.(919-921)cCg>cTg	p.P307L	SEC23IP_uc010qtc.2_Missense_Mutation_p.P96L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	307	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAGCCAGATCCGGAGAGCGTG	0.488												
CPXM2	119587	broad.mit.edu	37	10	125506288	125506288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125506288G>A	uc001lhk.1	-	13	2588	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	755					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGTCACCCACGCTGTCGTCTC	0.577												
CPXM2	119587	broad.mit.edu	37	10	125622179	125622179	+	Missense_Mutation	SNP	G	G	A	rs146535848		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125622179G>A	uc001lhk.1	-	2	789	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	155	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCGCTTCACCGTGGAGGCATG	0.507												
MRGPRE	116534	broad.mit.edu	37	11	3249728	3249728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:3249728G>A	uc021qcj.1	-	0	299	c.299C>T	c.(298-300)aCg>aTg	p.T100M	MRGPRE_uc001lxq.4_Missense_Mutation_p.T100M	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	100						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T100M(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCGCAGCGTTGCCAGGCT	0.662												
SOX6	55553	broad.mit.edu	37	11	16036504	16036504	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16036504C>T	uc001mme.3	-	12	1788	c.1755G>A	c.(1753-1755)cgG>cgA	p.R585R	SOX6_uc001mmd.3_Silent_p.R548R|SOX6_uc001mmf.3_Silent_p.R545R|SOX6_uc001mmg.3_Silent_p.R572R	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	572					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CATCTTCTGGCCGAGTAAGGT	0.463												
PLEKHA7	144100	broad.mit.edu	37	11	16847767	16847767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16847767C>T	uc010rcu.1	-	9	1258	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A415T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A123T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	415					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGAGGAAAGGCCCGCTGGTAC	0.592												
NELL1	4745	broad.mit.edu	37	11	20959373	20959373	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:20959373C>T	uc009yid.3	+	10	1276	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	NELL1_uc010rdp.2_Missense_Mutation_p.R107W|NELL1_uc001mqe.3_Missense_Mutation_p.R347W|NELL1_uc001mqf.3_Missense_Mutation_p.R347W|NELL1_uc010rdo.2_Missense_Mutation_p.R290W	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	347	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAAGGCCAGCGGATTTTAAC	0.408												
GYLTL1B	120071	broad.mit.edu	37	11	45950278	45950278	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:45950278G>A	uc001nbv.1	+	13	2159	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	683					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCACCTATCGTGACTGCCTC	0.637												
CHRM4	1132	broad.mit.edu	37	11	46406690	46406690	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:46406690C>T	uc001nct.1	-	0	1418	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	473					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.R473R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCCGATGTTCCGATACTGGCA	0.602												
P2RX3	5024	broad.mit.edu	37	11	57137380	57137380	+	Silent	SNP	C	C	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:57137380C>A	uc001nju.3	+	11	1288	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	368					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I368M(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547												
RASGRP2	10235	broad.mit.edu	37	11	64496457	64496457	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:64496457C>T	uc009ypu.3	-	14	1876	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	RASGRP2_uc001oat.3_Missense_Mutation_p.R452H|RASGRP2_uc001oau.3_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.3_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.3_Missense_Mutation_p.R550H	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	550					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCCTGCGCCGACACTC	0.637												
INPPL1	3636	broad.mit.edu	37	11	71942122	71942123	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71942122_71942123insC	uc001osf.3	+	11	1533_1534	c.1386_1387insC	c.(1384-1389)atacccfs	p.I462fs	INPPL1_uc001osg.3_Frame_Shift_Ins_p.I220fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	462					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGACCATACCCCATGACAT	0.579												
INPPL1	3636	broad.mit.edu	37	11	71943788	71943788	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71943788C>T	uc001osf.3	+	14	1978	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	INPPL1_uc001osg.3_Missense_Mutation_p.R369C	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	611					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTCAACTACCGCCTGGACAT	0.612												
ATG16L2	89849	broad.mit.edu	37	11	72528883	72528883	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:72528883C>T	uc001otd.3	+	2	341	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	ATG16L2_uc001otc.1_Missense_Mutation_p.R101W|ATG16L2_uc010rrf.1_Missense_Mutation_p.R101W|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_Missense_Mutation_p.R101W	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	101					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGAGGGGCTCCGGCTGGTCTG	0.577												
RNF26	79102	broad.mit.edu	37	11	119206097	119206097	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:119206097A>G	uc001pwh.3	+	0	888	c.265A>G	c.(265-267)Agc>Ggc	p.S89G		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	89	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCTGTATAGCTGCTGCTC	0.607												
TMEM136	219902	broad.mit.edu	37	11	120201174	120201174	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:120201174C>T	uc001pxj.3	+	2	1248	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	TMEM136_uc001pxg.3_Missense_Mutation_p.R133W|TMEM136_uc010rzm.2_Missense_Mutation_p.R111W|TMEM136_uc021qrl.1_Missense_Mutation_p.R129W|TMEM136_uc001pxh.2_Missense_Mutation_p.R230W|TMEM136_uc009zas.2_Missense_Mutation_p.R129W|TMEM136_uc001pxi.2_Missense_Mutation_p.R129W	NM_001198670	NP_001185599	Q6ZRR5	TM136_HUMAN	Homo sapiens transmembrane protein 136 (TMEM136), transcript variant 1, mRNA.	230						integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GAGAAGCAGGCGGAGTGAGGA	0.493												
FOXRED1	55572	broad.mit.edu	37	11	126143242	126143242	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:126143242C>T	uc001qdi.3	+	3	596	c.429C>T	c.(427-429)gcC>gcT	p.A143A	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.R12C|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Silent_p.A129A|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTACCTGGCCGTAGTCGATG	0.557												
ADAMTS15	170689	broad.mit.edu	37	11	130343095	130343095	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:130343095G>A	uc010scd.2	+	7	2232	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	744	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCGTGGTGTCGGCGGTGGAGC	0.642												
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612												
WBP11	51729	broad.mit.edu	37	12	14946750	14946750	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:14946750G>A	uc001rci.3	-	7	989	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	276	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTGATTTGTCGGTGTCACTGT	0.433												
TXNRD1	7296	broad.mit.edu	37	12	104714974	104714974	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:104714974C>T	uc021rcx.1	+	9	1117	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	TXNRD1_uc021rcy.1_Silent_p.D267D|TXNRD1_uc021rcz.1_Silent_p.D215D|TXNRD1_uc021rda.1_Silent_p.D215D|TXNRD1_uc021rdb.1_Silent_p.D215D|TXNRD1_uc010swp.2_Silent_p.D177D|TXNRD1_uc010swq.2_Silent_p.D265D|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.D281D	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	365			D -> G (in dbSNP:rs1127954).	D -> N (in Ref. 3; AAC69621).	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TTGGTTTAGACGTCACTGTTA	0.448												
ULK1	8408	broad.mit.edu	37	12	132397780	132397780	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:132397780G>A	uc001uje.3	+	13	1402	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	378	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCAAACCCCCGCCAGACAGCC	0.622												
TPTE2	93492	broad.mit.edu	37	13	20067042	20067042	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:20067042G>A	uc001umd.3	-	4	277	c.66_splice	c.e4-1	p.S22_splice	TPTE2_uc009zzk.3_Splice_Site|TPTE2_uc009zzl.3_Splice_Site_p.S22_splice|TPTE2_uc001ume.3_Splice_Site_p.S22_splice|TPTE2_uc009zzm.3_Splice_Site|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	22						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P23S(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGTGTGTGGGCTAGAGGAT	0.353												
PARP4	143	broad.mit.edu	37	13	25023906	25023906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:25023906C>T	uc001upl.3	-	24	3170	c.3064G>A	c.(3064-3066)Gga>Aga	p.G1022R		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1022	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.G1022*(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAAATACTCCGGCACCACAC	0.308												
STARD13	90627	broad.mit.edu	37	13	33704214	33704214	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:33704214G>A	uc001uuw.3	-	4	726	c.600C>T	c.(598-600)agC>agT	p.S200S	STARD13_uc001uuu.3_Silent_p.S192S|STARD13_uc001uuv.3_Silent_p.S82S|STARD13_uc001uux.3_Silent_p.S165S|STARD13_uc010abh.1_Silent_p.S185S|STARD13_uc021rhz.1_Silent_p.S192S|STARD13_uc021ria.1_Silent_p.S82S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACTGCTTTCGCTGTGAATGG	0.627												
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:48947629G>A	uc001vcb.3	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	405	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
TGDS	23483	broad.mit.edu	37	13	95233375	95233375	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95233375A>C	uc001vlw.3	-	5	646	c.525T>G	c.(523-525)tgT>tgG	p.C175W		NM_014305	NP_055120	O95455	TGDS_HUMAN	Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.	175					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTGTACAAAACATTCAGCAG	0.318												
ABCC4	10257	broad.mit.edu	37	13	95673860	95673860	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95673860G>A	uc001vmd.4	-	30	4066	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	ABCC4_uc010afj.3_Missense_Mutation_p.S107L|ABCC4_uc010afk.3_Missense_Mutation_p.S1269L	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1316					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AGTTAAGGTCGAGGGCTGTCC	0.383												
COL4A2	1284	broad.mit.edu	37	13	111088642	111088642	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111088642C>T	uc001vqx.3	+	12	1042	c.753C>T	c.(751-753)aaC>aaT	p.N251N		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	251	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGGACCCAACGGGATTCCAT	0.463												
ING1	3621	broad.mit.edu	37	13	111371669	111371669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111371669C>T	uc001vri.3	+	1	1091	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ING1_uc001vrf.3_Missense_Mutation_p.A33V|ING1_uc001vrg.3_Missense_Mutation_p.A8V|ING1_uc001vrh.3_Missense_Mutation_p.A77V|ING1_uc021rmo.1_Missense_Mutation_p.A8V	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	220					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCAGCGCGCGCTGATCCGC	0.652												
ARHGEF7	8874	broad.mit.edu	37	13	111870210	111870210	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111870210G>A	uc001vrs.2	+	5	966	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ARHGEF7_uc001vrr.2_Missense_Mutation_p.R218H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R189H|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrw.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrx.4_Missense_Mutation_p.R61H|ARHGEF7_uc010tjo.2_Missense_Mutation_p.R136H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	239	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AACTACGTGCGCGAGGTCAAG	0.567												
NEMF	9147	broad.mit.edu	37	14	50267402	50267402	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:50267402G>A	uc010anj.1	-	22	2176	c.2108C>T	c.(2107-2109)aCg>aTg	p.T703M	NEMF_uc001wwz.3_5'Flank|NEMF_uc001wxa.3_5'UTR|NEMF_uc001wxc.3_Missense_Mutation_p.T703M|NEMF_uc010tqi.2_Missense_Mutation_p.T682M|NEMF_uc001wxe.2_Missense_Mutation_p.T661M|NEMF_uc001wxd.1_Missense_Mutation_p.T108M	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	703						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATCACTGCTCGTGTCACCTCC	0.413												
BMP4	652	broad.mit.edu	37	14	54418835	54418835	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:54418835C>T	uc001xal.4	-	1	293	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	BMP4_uc010aoh.3_Missense_Mutation_p.A36T|BMP4_uc001xao.4_Missense_Mutation_p.A36T|BMP4_uc001xan.4_Missense_Mutation_p.A36T	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	36					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGAATCTCGGCGACTTTTTTC	0.582												
PLEKHG3	26030	broad.mit.edu	37	14	65208866	65208866	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:65208866G>A	uc001xhp.2	+	15	3033	c.2994G>A	c.(2992-2994)ccG>ccA	p.P998P	PLEKHG3_uc001xhn.1_Silent_p.P821P|PLEKHG3_uc001xho.1_Silent_p.P877P|PLEKHG3_uc010aqh.1_Silent_p.P419P|PLEKHG3_uc001xhq.1_Silent_p.P382P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCGCAGCCCGGCCCACCTGG	0.667												
ADCK1	57143	broad.mit.edu	37	14	78390916	78390916	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:78390916G>A	uc001xui.3	+	7	1074	c.975G>A	c.(973-975)gcG>gcA	p.A325A	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.A257A|ADCK1_uc001xuk.1_Silent_p.A199A|ADCK1_uc001xul.3_Silent_p.A32A	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	332	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CGGGAAAGGCGGAGATTGTCC	0.557												
EML5	161436	broad.mit.edu	37	14	89160659	89160659	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:89160659C>T	uc021ryf.1	-	16	2780	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	EML5_uc021ryg.1_Missense_Mutation_p.R844H|EML5_uc001xxh.1_Missense_Mutation_p.R21H	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	844						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCTGCTTTACGCCAAAATTT	0.323												
RIN3	79890	broad.mit.edu	37	14	93119291	93119291	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:93119291C>T	uc001yap.3	+	5	2049	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	RIN3_uc010auk.3_Missense_Mutation_p.R295C|RIN3_uc001yaq.3_Missense_Mutation_p.R558C|RIN3_uc001yar.1_Missense_Mutation_p.R295C|RIN3_uc001yas.1_Missense_Mutation_p.R295C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	633	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.R633C(2)|p.A632V(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGATGGCGCGCCAGACCTC	0.597												
SERPINA5	5104	broad.mit.edu	37	14	95058444	95058444	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95058444G>A	uc001ydm.2	+	5	1299	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	SERPINA3_uc001ydo.4_5'UTR	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	363					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGAGCAGCGGCAGCCACGG	0.567												
C14orf49	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	A	rs143391386		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95922000G>A	uc001yei.4	-	4	866	c.851C>T	c.(850-852)gCg>gTg	p.A284V	C14orf49_uc010avi.3_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	284					cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AATGACACCCGCAGACTGCTC	0.567												
CDC42BPB	9578	broad.mit.edu	37	14	103412980	103412980	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:103412980C>T	uc001ymi.1	-	27	3805	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	CDC42BPB_uc001ymj.1_Silent_p.S293S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1191	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAATGAGCAGCGAGCTGGTCT	0.488												
HERC2	8924	broad.mit.edu	37	15	28421858	28421858	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:28421858C>T	uc001zbj.3	-	61	9595	c.9489G>A	c.(9487-9489)gcG>gcA	p.A3163A		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3163					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGGGTCTGCGCGTCTCTAC	0.493												
SPTBN5	51332	broad.mit.edu	37	15	42151139	42151139	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:42151139A>G	uc001zos.3	-	47	8256	c.7923T>C	c.(7921-7923)caT>caC	p.H2641H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2676					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCCAGGCGATGGCGGCGGG	0.706												
SLC27A2	11001	broad.mit.edu	37	15	50528151	50528151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:50528151G>A	uc001zxw.3	+	9	1953	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	SLC27A2_uc010bes.3_Missense_Mutation_p.R521H|SLC27A2_uc001zxx.3_Missense_Mutation_p.R339H	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	574					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTAAACACCGCAAAATGACC	0.418												
ARID3B	10620	broad.mit.edu	37	15	74888087	74888087	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:74888087C>T	uc002aye.3	+	8	1859	c.1658C>T	c.(1657-1659)gCa>gTa	p.A553V	ARID3B_uc002ayd.3_Missense_Mutation_p.A552V|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	553	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCCCCAGCGCAGAGCCCTCC	0.617												
COMMD4	54939	broad.mit.edu	37	15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75631625C>T	uc002azy.3	+	5	379	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Silent_p.A90A|COMMD4_uc002baa.3_Missense_Mutation_p.R108C|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	108						cytoplasm	protein binding	p.R108C(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612												
SIN3A	25942	broad.mit.edu	37	15	75722661	75722661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75722661C>T	uc002bai.3	-	1	315	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	SIN3A_uc002baj.3_Missense_Mutation_p.R19Q|SIN3A_uc010uml.2_Missense_Mutation_p.R19Q|SIN3A_uc002bak.4_Missense_Mutation_p.R19Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	19					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCCAGGGATCCGACGCTGCTG	0.577												
WDR61	80349	broad.mit.edu	37	15	78578420	78578420	+	Missense_Mutation	SNP	C	C	T	rs148690647	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:78578420C>T	uc002bdn.3	-	8	788	c.712G>A	c.(712-714)Gtt>Att	p.V238I	WDR61_uc002bdo.3_Missense_Mutation_p.V238I	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	Homo sapiens WD repeat domain 61 (WDR61), mRNA.	238							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAGAATGCAACGTTCAGCACC	0.433												
MESDC1	59274	broad.mit.edu	37	15	81295114	81295114	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:81295114C>T	uc002bfz.3	+	0	1820	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	168										endometrium(1)|lung(2)	3						CGCCGTGCTGCGCGCCACGCC	0.746												
WDR73	84942	broad.mit.edu	37	15	85189474	85189474	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:85189474G>A	uc002bkw.2	-	5	474	c.458C>T	c.(457-459)gCg>gTg	p.A153V	WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_Missense_Mutation_p.A153V|AL357213_uc002bky.1_3'UTR	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	Homo sapiens WD repeat domain 73 (WDR73), mRNA.	153										cervix(1)|large_intestine(1)|lung(1)	3						TCGGAGCCTCGCCCCATGGAG	0.582												
LRRK1	79705	broad.mit.edu	37	15	101567914	101567914	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:101567914C>T	uc002bwr.3	+	18	2917	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	866					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGACGACGACGTGCAGTACC	0.667												
HS3ST2	9956	broad.mit.edu	37	16	22926622	22926622	+	Silent	SNP	G	G	A	rs148264643		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:22926622G>A	uc002dli.3	+	1	915	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	281						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCACTGACCCGGCCGGCGAGA	0.552												
C16orf54	283897	broad.mit.edu	37	16	29756241	29756241	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:29756241C>T	uc002dtp.2	-	1	141	c.32G>A	c.(31-33)cGc>cAc	p.R11H	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	11						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCCCTCCACGCGCCCAGAGGG	0.652												
ZNF689	115509	broad.mit.edu	37	16	30616193	30616193	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30616193G>A	uc002dyx.3	-	2	1215	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	ZNF689_uc010bzy.3_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Homo sapiens zinc finger protein 689 (ZNF689), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GTGCGCTGGCGGAAGCGGCGG	0.672												
FBXL19	54620	broad.mit.edu	37	16	30958480	30958480	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30958480C>T	uc002eab.2	+	10	2172	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	FBXL19_uc002dzz.1_Missense_Mutation_p.R360W|FBXL19_uc002eaa.1_Missense_Mutation_p.R571W|ORAI3_uc002eac.3_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	672							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGCTTGTGCCCGGCTGGCAGC	0.711												
CCDC102A	92922	broad.mit.edu	37	16	57546730	57546730	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:57546730G>A	uc002elw.3	-	8	1789	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	526										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTGCCAAAGCGAGCACTGCGG	0.637												
FAM65A	79567	broad.mit.edu	37	16	67578997	67578997	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:67578997G>A	uc010vjp.2	+	16	3254	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	FAM65A_uc002eth.3_Missense_Mutation_p.R1003H|FAM65A_uc010cej.3_Missense_Mutation_p.R1007H|FAM65A_uc010vjq.2_Missense_Mutation_p.R1017H|FAM65A_uc002etk.3_Missense_Mutation_p.R1001H	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	1007						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTCCCTGCGCCAGCCAGGC	0.627												
PKD1L2	114780	broad.mit.edu	37	16	81236192	81236192	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:81236192G>A	uc002fgh.1	-	5	1056	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PKD1L2_uc002fgj.3_Silent_p.S352S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	352					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGACAGGCCGGAGCATGCAG	0.582												
SLC7A5	8140	broad.mit.edu	37	16	87873310	87873310	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:87873310C>T	uc002fkm.3	-	4	1009	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	313					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CGGCTCACCACGGCCACGGCC	0.662												
RPA1	6117	broad.mit.edu	37	17	1780602	1780602	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:1780602C>T	uc002fto.2	+	7	799	c.684C>T	c.(682-684)gaC>gaT	p.D228D		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	228					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AACTGGTTGACGAAAGTGTGA	0.562								Nucleotide excision repair (NER)				
PLD2	5338	broad.mit.edu	37	17	4713214	4713214	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:4713214C>T	uc002fzc.3	+	8	876	c.750C>T	c.(748-750)ctC>ctT	p.L250L	PLD2_uc010vsj.2_Silent_p.L107L|PLD2_uc002fzd.3_Silent_p.L250L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	250	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACATGTGCCTCGAGACAGGTG	0.562												
WSCD1	23302	broad.mit.edu	37	17	6023636	6023636	+	Silent	SNP	G	G	A	rs146617432		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:6023636G>A	uc010cli.3	+	8	1762	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	WSCD1_uc002gcn.3_Silent_p.P461P|WSCD1_uc002gco.3_Silent_p.P461P|WSCD1_uc010clj.3_Silent_p.P152P	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	461						integral to membrane	sulfotransferase activity	p.P461P(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TAGAGTGGCCGGACTTTGTCA	0.672												
DLG4	1742	broad.mit.edu	37	17	7097030	7097030	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7097030C>T	uc010vtn.2	-	13	1627	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.R513Q|DLG4_uc002get.4_Missense_Mutation_p.R559Q|DLG4_uc010vto.2_Missense_Mutation_p.R556Q	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	516	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	p.R559Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGAGTCTTCTCGACCTGGTGG	0.612												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
KDM6B	23135	broad.mit.edu	37	17	7752152	7752152	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7752152C>T	uc002gix.3	+	0	1289	c.452C>T	c.(451-453)cCg>cTg	p.P151L	KDM6B_uc002giw.1_Missense_Mutation_p.P849L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	849					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCGCCCTGCCGCCCACCTCA	0.687												
FAM211A	388341	broad.mit.edu	37	17	16347362	16347362	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:16347362C>T	uc010cph.1	-	3	751	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	FAM211A_uc002gqh.2_Silent_p.A153A|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron|FAM211A_uc002gqg.1_3'UTR	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA.	192										lung(1)	1						GCTGGTCACCCGCTCCAGGTC	0.632												
NOS2	4843	broad.mit.edu	37	17	26116655	26116655	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:26116655G>A	uc002gzu.3	-	2	434	c.170C>T	c.(169-171)cCg>cTg	p.P57L	NOS2_uc010crh.1_Missense_Mutation_p.P57L|NOS2_uc010wab.1_Missense_Mutation_p.P57L	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	57					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			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)	GAGGGGCTGCGGGGACTCATT	0.552												
SRCIN1	80725	broad.mit.edu	37	17	36704805	36704805	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:36704805G>A	uc002hqd.3	-	16	3483	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	SRCIN1_uc002hqf.1_Silent_p.I958I|SRCIN1_uc002hqe.2_Silent_p.I940I	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	958					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTAGCTCTGCGATGATGCGAT	0.667												
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:39274424G>C	uc002hvz.3	-	0	183	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672												
LEPREL4	10609	broad.mit.edu	37	17	39966036	39966036	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:39966036T>C	uc002hxu.3	-	4	1305	c.1111A>G	c.(1111-1113)Acc>Gcc	p.T371A	FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Missense_Mutation_p.T280A	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	280	Asp/Glu-rich (acidic).				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACATTGGGGGTCAAATTGGCC	0.562												
BRCA1	672	broad.mit.edu	37	17	41243940	41243940	+	Missense_Mutation	SNP	C	C	T	rs55930959		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:41243940C>T	uc002icq.3	-	9	3840	c.3608G>A	c.(3607-3609)cGa>cAa	p.R1203Q	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R1132Q|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R1156Q|BRCA1_uc002ict.3_Missense_Mutation_p.R1203Q|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R1203Q|BRCA1_uc002ide.1_Missense_Mutation_p.R1034Q|BRCA1_uc010cyy.1_Missense_Mutation_p.R1203Q|BRCA1_uc010whs.1_Missense_Mutation_p.R1203Q|BRCA1_uc010cyz.2_Missense_Mutation_p.R1156Q|BRCA1_uc010cza.2_Missense_Mutation_p.R1177Q|BRCA1_uc010wht.1_Missense_Mutation_p.R907Q	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1203					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCCCTCTTCGGTAACCCTG	0.433			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)		
MYCBPAP	84073	broad.mit.edu	37	17	48597088	48597088	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:48597088C>T	uc010wmr.2	+	6	1147	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	292					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AAAAACTCAGCGTGGCCTCAT	0.562												
AP1S2	653653	broad.mit.edu	37	17	58179869	58179869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:58179869C>T	uc010wot.1	-	0	412	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	52					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					CTTCAGATCTCGCCACTCAAG	0.388												
AMZ2	51321	broad.mit.edu	37	17	66246475	66246475	+	Silent	SNP	A	A	G	rs138991707		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:66246475A>G	uc002jgt.1	+	2	292	c.147A>G	c.(145-147)ggA>ggG	p.G49G	AMZ2_uc002jgs.1_Silent_p.G49G|AMZ2_uc002jgr.1_Silent_p.G49G|AMZ2_uc002jgu.1_Silent_p.G49G|AMZ2_uc002jgv.1_Silent_p.G49G|AMZ2_uc002jgw.1_Silent_p.G49G|AMZ2_uc002jgx.1_Silent_p.G49G|AMZ2_uc002jgy.1_Silent_p.G49G	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	49							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTCTTTGGACCCATTACCT	0.458												
QRICH2	84074	broad.mit.edu	37	17	74287140	74287140	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74287140C>T	uc002jrd.1	-	3	3350	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1057							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTTTGGCCGGCCTGCTC	0.532												
UBE2O	63893	broad.mit.edu	37	17	74395033	74395033	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74395033G>A	uc002jrm.4	-	9	1733	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	UBE2O_uc002jrn.4_Silent_p.D556D|UBE2O_uc002jrl.4_Silent_p.D159D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	556							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCCACATCACGTCGGCTGAGG	0.627												
AATK	9625	broad.mit.edu	37	17	79094804	79094804	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79094804G>A	uc010dia.3	-	10	3012	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Missense_Mutation_p.R875W	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	978						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGGAGAGCCGTGTCTCGGGC	0.652												
NPLOC4	55666	broad.mit.edu	37	17	79556036	79556036	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79556036G>A	uc002kau.3	-	11	1397	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	NPLOC4_uc002kat.4_Silent_p.D405D|NPLOC4_uc010wur.1_Silent_p.D244D	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	405					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTCCGGGGCGTCCTTGCATG	0.493												
ARHGDIA	396	broad.mit.edu	37	17	79826780	79826780	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79826780A>C	uc021uff.1	-	5	893	c.587T>G	c.(586-588)cTc>cGc	p.L196R	AK293147_uc021ufe.1_5'UTR|ARHGDIA_uc002kbq.3_Missense_Mutation_p.L196R|ARHGDIA_uc021ufg.1_Missense_Mutation_p.L152R|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	196					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTGATGGTGAGATTCCACTC	0.642												
MC2R	4158	broad.mit.edu	37	18	13885086	13885086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:13885086C>T	uc002ksp.1	-	1	609	c.432G>A	c.(430-432)atG>atA	p.M144I	MC2R_uc021uhs.1_Missense_Mutation_p.M144I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	144					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGTGCGGCGCATGGTCACGA	0.577												
NPC1	4864	broad.mit.edu	37	18	21119357	21119357	+	Missense_Mutation	SNP	C	C	T	rs120074132		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119357C>T	uc002kum.4	-	18	3147	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q	NPC1_uc010xaz.2_Missense_Mutation_p.R691Q	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	958			R -> L (in NPC1).|R -> Q (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTGTCCACTCGACAGCAAGA	0.448												
NPC1	4864	broad.mit.edu	37	18	21119839	21119839	+	Missense_Mutation	SNP	C	C	T	rs34302553	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119839C>T	uc002kum.4	-	17	3005	c.2731G>A	c.(2731-2733)Ggc>Agc	p.G911S	NPC1_uc010xaz.2_Missense_Mutation_p.G644S|NPC1_uc010xba.1_Missense_Mutation_p.G756S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	911					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGCCCATGCCGCCGCACACC	0.547												
NPC1	4864	broad.mit.edu	37	18	21136387	21136387	+	Silent	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21136387T>C	uc002kum.4	-	7	1420	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	NPC1_uc010xaz.2_Silent_p.S183S|NPC1_uc010xba.1_Silent_p.S227S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	382					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCTGGGGGCTGACCAGAGGT	0.567												
DSG1	1828	broad.mit.edu	37	18	28908192	28908192	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:28908192G>A	uc002kwp.3	+	3	469	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	86	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.R86H(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTACATACCGCATCTCTGGA	0.373												
TRAPPC8	22878	broad.mit.edu	37	18	29447379	29447379	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:29447379C>T	uc002kxc.4	-	16	2813	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	TRAPPC8_uc002kxb.4_Missense_Mutation_p.E763K|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	817					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.E817K(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGATTCTTCGCCATTAATT	0.259												
RNF165	494470	broad.mit.edu	37	18	44036518	44036518	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44036518C>T	uc002lcb.1	+	7	1011	c.960C>T	c.(958-960)tgC>tgT	p.C320C	RNF165_uc002lby.1_Silent_p.C253C|RNF165_uc010dnn.1_Silent_p.C116C	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	320							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ACCAACTGTGCGTGGACCAGT	0.587												
TCEB3C	162699	broad.mit.edu	37	18	44554670	44554670	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44554670G>A	uc010xdb.2	-	0	1780	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A515A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTccgcgggcgccgcgtgccg	0.672												
MAPK4	5596	broad.mit.edu	37	18	48252336	48252336	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:48252336C>T	uc002lev.3	+	4	1858	c.858C>T	c.(856-858)atC>atT	p.I286I	MAPK4_uc010xdm.2_Silent_p.I75I|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	286	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCAGCCATCGACTTTCTGG	0.542												
KCNG2	26251	broad.mit.edu	37	18	77624216	77624216	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:77624216C>T	uc010xfl.2	+	0	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	183					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCGTGTCCGTGTCCTTCG	0.766												
LPPR3	79948	broad.mit.edu	37	19	813085	813085	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:813085C>T	uc002lpw.1	-	6	1790	c.1726G>A	c.(1726-1728)Gcg>Acg	p.A576T	LPPR3_uc021ulz.1_Missense_Mutation_p.A184T|LPPR3_uc002lpx.1_Missense_Mutation_p.A548T|LPPR3_uc002lpy.1_Missense_Mutation_p.A329T|MIR3187_uc021uma.1_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	548						integral to membrane	phosphatidate phosphatase activity										GGGCCCGGCGCGCCCGGAGCC	0.726												
MLLT1	4298	broad.mit.edu	37	19	6222504	6222504	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:6222504C>T	uc002mek.3	-	5	902	c.738G>A	c.(736-738)ccG>ccA	p.P246P		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	246					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CAGCCTTGGGCGGTGGCGCCT	0.672			T	MLL	AL							
MUC16	94025	broad.mit.edu	37	19	9008202	9008202	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:9008202G>A	uc002mkp.3	-	40	39554	c.39350C>T	c.(39349-39351)aCc>aTc	p.T13117I	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13119	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCGGTCCAGGGTGTAGGGGCC	0.547												
DNM2	1785	broad.mit.edu	37	19	10886407	10886407	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:10886407G>A	uc002mpt.2	+	3	604	c.414G>A	c.(412-414)ccG>ccA	p.P138P	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.P138P|DNM2_uc010dxl.2_Silent_p.P138P|DNM2_uc002mpu.2_Silent_p.P138P|DNM2_uc002mpv.2_Silent_p.P138P	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	138					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGACCTCCCGGGTATCACCA	0.587			"""F, N, Splice, Mis, O"""		ETP ALL							
CARM1	10498	broad.mit.edu	37	19	11018751	11018751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:11018751G>A	uc002mpz.3	+	2	509	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	128					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AAAACCTGCCGGGGCCACACC	0.617												
MAST1	22983	broad.mit.edu	37	19	12975736	12975736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:12975736G>A	uc002mvm.3	+	12	1608	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	494	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTATGGCATCGTGCACCGCGA	0.572												
TRMT1	55621	broad.mit.edu	37	19	13216154	13216154	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:13216154C>T	uc002mwj.2	-	14	2010	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q	LYL1_uc002mwi.3_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.R191Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R558Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R587Q|TRMT1_uc010xmz.1_3'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	587							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGCTCCTTCCGCTTGTTCTG	0.622											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL27RA	9466	broad.mit.edu	37	19	14150709	14150709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:14150709C>T	uc002mxx.3	+	3	944	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	174	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGTCAGGAGGCGGCCTGGACC	0.592												
SLC27A1	376497	broad.mit.edu	37	19	17612106	17612106	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:17612106C>T	uc002ngu.1	+	10	1711	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	SLC27A1_uc010xpp.1_Missense_Mutation_p.A375V|SLC27A1_uc002ngv.1_Missense_Mutation_p.A156V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	554					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGGGATGGCGGCCGTCGCA	0.647												
NCAN	1463	broad.mit.edu	37	19	19356151	19356151	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:19356151G>A	uc002nlz.3	+	12	3621	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	NCAN_uc002nma.3_Intron	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1174	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAACCAGCCGGACAATTTCT	0.572												
NPHS1	4868	broad.mit.edu	37	19	36340484	36340484	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:36340484G>A	uc002oby.3	-	5	836	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	227	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCTTGATGGGGGCCTCCAG	0.587												
SIPA1L3	23094	broad.mit.edu	37	19	38590640	38590640	+	Silent	SNP	G	G	A	rs142598144		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:38590640G>A	uc002ohk.3	+	4	2213	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607												
SPTBN4	57731	broad.mit.edu	37	19	41009787	41009787	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:41009787C>T	uc002ony.3	+	11	1499	c.1413C>T	c.(1411-1413)caC>caT	p.H471H	SPTBN4_uc002onx.3_Silent_p.H471H|SPTBN4_uc002onz.3_Silent_p.H471H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	471					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAGAAACACGAAGCGATCG	0.622												
ARHGEF1	9138	broad.mit.edu	37	19	42398544	42398544	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42398544G>A	uc002orx.3	+	9	874	c.765G>A	c.(763-765)tcG>tcA	p.S255S	ARHGEF1_uc002orw.1_Silent_p.S255S|ARHGEF1_uc002ory.3_Silent_p.S222S|ARHGEF1_uc002orz.3_Silent_p.S93S|ARHGEF1_uc002osa.3_Silent_p.S270S|ARHGEF1_uc002osb.3_Silent_p.S237S|ARHGEF1_uc002osc.3_5'Flank|ARHGEF1_uc002osd.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	255					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCGGCGGTCGGACGAGCCTG	0.622												
DEDD2	162989	broad.mit.edu	37	19	42703643	42703643	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42703643G>A	uc002osu.1	-	4	996	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.R305C	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	310					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGCAACAGGCGGCGCCGGCCA	0.672												
PSG8	440533	broad.mit.edu	37	19	43259226	43259226	+	Missense_Mutation	SNP	G	G	A	rs150991804		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:43259226G>A	uc002ouo.2	-	3	1000	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T301M|PSG8_uc010ein.3_Missense_Mutation_p.T179M|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	301	Ig-like C2-type 2.					extracellular region		p.V300V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478												
EML2	24139	broad.mit.edu	37	19	46137650	46137650	+	Missense_Mutation	SNP	C	C	T	rs143778766		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46137650C>T	uc010xxm.2	-	6	935	c.862G>A	c.(862-864)Gta>Ata	p.V288I	EML2_uc002pcn.3_Missense_Mutation_p.V87I|EML2_uc002pcp.3_Intron|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.V234I|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.V87I|EML2_uc010ekj.3_Missense_Mutation_p.V87I	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	87					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCACGGCTACGGAGGCCACA	0.607												
SYMPK	8189	broad.mit.edu	37	19	46345702	46345702	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46345702C>T	uc002pdn.3	-	8	1138	c.893G>A	c.(892-894)cGt>cAt	p.R298H	SYMPK_uc002pdo.1_Missense_Mutation_p.R298H|SYMPK_uc002pdp.1_Missense_Mutation_p.R298H|SYMPK_uc002pdq.2_Missense_Mutation_p.R298H	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	298					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGATTCTTACGCACACTGCT	0.592												
SYMPK	8189	broad.mit.edu	37	19	46351088	46351088	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46351088C>T	uc002pdn.3	-	6	843	c.598G>A	c.(598-600)Gac>Aac	p.D200N	SYMPK_uc002pdo.1_Missense_Mutation_p.D200N|SYMPK_uc002pdp.1_Missense_Mutation_p.D200N|SYMPK_uc002pdq.2_Missense_Mutation_p.D200N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	200					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCTCTGAGTCAGCCATGCGG	0.577												
GRIN2D	2906	broad.mit.edu	37	19	48945047	48945047	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:48945047C>T	uc002pjc.4	+	10	2362	c.2274C>T	c.(2272-2274)taC>taT	p.Y758Y	GRIN2D_uc010elx.3_5'UTR	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	758						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCTTCATCTACGATGCTGCAG	0.622												
TSKS	60385	broad.mit.edu	37	19	50243103	50243103	+	Missense_Mutation	SNP	G	G	A	rs141726866	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:50243103G>A	uc002ppm.3	-	10	1720	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	570							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CATTGTTCCCGTGGACCCCTC	0.562												
SIGLEC6	946	broad.mit.edu	37	19	52034117	52034117	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52034117C>T	uc002pwy.3	-	2	732	c.524G>A	c.(523-525)gGg>gAg	p.G175E	SIGLEC6_uc002pwz.3_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G139E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G175E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G128E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	175	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGGCGTCCCCTGCTCACA	0.667												
FPR1	2357	broad.mit.edu	37	19	52249297	52249297	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52249297G>A	uc021uyn.1	-	2	1097	c.951C>T	c.(949-951)ccC>ccT	p.P317P	FPR1_uc002pxq.3_Silent_p.P317P|FPR1_uc021uyo.1_Silent_p.P317P	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	317					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGACTGGCGGGAAGGGCGT	0.557												
ASAP2	8853	broad.mit.edu	37	2	9517083	9517083	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:9517083G>A	uc002qzh.2	+	17	2133	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	ASAP2_uc002qzi.2_Missense_Mutation_p.R598Q	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	598					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGTGGATCGAACCTCTCTT	0.448												
GALNT14	79623	broad.mit.edu	37	2	31167749	31167749	+	Missense_Mutation	SNP	G	G	A	rs143143842	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:31167749G>A	uc002rns.3	-	8	1457	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	GALNT14_uc002rnq.3_Missense_Mutation_p.R248C|GALNT14_uc010ymr.2_Missense_Mutation_p.R233C|GALNT14_uc002rnr.3_Missense_Mutation_p.R268C|GALNT14_uc010ezo.2_Missense_Mutation_p.R235C|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R268C(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGTCCAGGCGCCGAGCCTTC	0.587												
MYADML	151325	broad.mit.edu	37	2	33952423	33952423	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:33952423C>T	uc002rpb.3	-	0	862	c.420G>A	c.(418-420)gcG>gcA	p.A140A						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		TAGTGAGGGCCGCCAGGACGA	0.632												
ARHGAP25	9938	broad.mit.edu	37	2	69034467	69034467	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:69034467G>A	uc010fdg.3	+	4	948	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	ARHGAP25_uc010yqk.2_Missense_Mutation_p.V151M|ARHGAP25_uc010yql.2_Missense_Mutation_p.V137M|ARHGAP25_uc002sev.3_Missense_Mutation_p.V170M|ARHGAP25_uc002sew.3_Missense_Mutation_p.V169M|ARHGAP25_uc002sex.3_Missense_Mutation_p.V170M|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	176	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCCCCATCTGGTGCCCATCCT	0.562												
C2orf68	388969	broad.mit.edu	37	2	85836146	85836146	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:85836146C>T	uc002sqc.2	-	3	495	c.423G>A	c.(421-423)acG>acA	p.T141T	USP39_uc002sqb.3_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	Homo sapiens chromosome 2 open reading frame 68 (C2orf68), mRNA.	141										breast(1)|central_nervous_system(1)|endometrium(1)	3						GATCCAGAGGCGTGTGTGCCG	0.572												
TBC1D8	11138	broad.mit.edu	37	2	101656773	101656773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:101656773G>A	uc010fiv.3	-	5	1033	c.902C>T	c.(901-903)gCg>gTg	p.A301V	TBC1D8_uc010yvw.2_Missense_Mutation_p.A316V|TBC1D8_uc002tau.4_Missense_Mutation_p.A58V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	301	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTCCACAACCGCGTGCAGCTT	0.577												
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612												
TUBA3D	113457	broad.mit.edu	37	2	132238322	132238322	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:132238322G>T	uc002tsu.4	+	4	1249	c.1056_splice	c.e4+1	p.K352_splice		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	352					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGGATTTAAGGTATGACTGG	0.552												
TANC1	85461	broad.mit.edu	37	2	160074082	160074082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:160074082C>T	uc002uag.3	+	19	3593	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W	TANC1_uc010zcm.2_Missense_Mutation_p.R1099W|TANC1_uc010fom.1_Missense_Mutation_p.R913W|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1107						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGTGTCGCGGACAAACAG	0.597												
TTN	7273	broad.mit.edu	37	2	179396884	179396884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:179396884C>T	uc021vsy.1	-	306	96979	c.96754G>A	c.(96754-96756)Gaa>Aaa	p.E32252K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25947K|TTN_uc021vta.1_Missense_Mutation_p.E25880K|TTN_uc021vtb.1_Missense_Mutation_p.E25755K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33179	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E32250K(1)|p.E25880K(1)|p.E25947K(1)|p.E25755K(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)			TTTGAGATTTCGTATTCTTCC	0.413												
SPATS2L	26010	broad.mit.edu	37	2	201337625	201337625	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:201337625C>T	uc010zhc.2	+	11	1344	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	SPATS2L_uc002uvn.4_Silent_p.H377H|SPATS2L_uc010fst.3_Silent_p.H377H|SPATS2L_uc002uvo.4_Silent_p.H317H|SPATS2L_uc002uvp.4_Silent_p.H377H|SPATS2L_uc002uvq.4_Silent_p.H308H|SPATS2L_uc002uvr.4_Silent_p.H377H	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	377						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGCGCACGCAGCAACCT	0.483												
PID1	55022	broad.mit.edu	37	2	230020577	230020577	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:230020577G>A	uc002vpr.4	-	1	271	c.233C>T	c.(232-234)aCg>aTg	p.T78M	PID1_uc002vps.4_Missense_Mutation_p.T76M|PID1_uc002vpt.4_Missense_Mutation_p.T45M|PID1_uc002vpu.4_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	78						cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CGGTGTGGTCGTGCACAGCTC	0.517												
UGT1A1	54600	broad.mit.edu	37	2	234580843	234580843	+	Missense_Mutation	SNP	G	G	A	rs148603525	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234580843G>A	uc002vus.3	+	0	300	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R88Q	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	90					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R88L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GATCTGGACCGGGAGTTCAAG	0.408												
TRPM8	79054	broad.mit.edu	37	2	234851383	234851383	+	Silent	SNP	C	C	T	rs147774253		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234851383C>T	uc002vvh.3	+	5	730	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.C180C|TRPM8_uc002vvj.3_Silent_p.C153C	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	230						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCAGGAATTGCGATGCTGAGG	0.562												
KIF1A	547	broad.mit.edu	37	2	241728662	241728662	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:241728662C>T	uc010fzk.3	-	2	421	c.174G>A	c.(172-174)tcG>tcA	p.S58S	KIF1A_uc002vzy.3_Silent_p.S58S|KIF1A_uc002vzz.2_Silent_p.S58S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	58	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGAGGTGTGCGACCAGTAGG	0.612												
PREX1	57580	broad.mit.edu	37	20	47249039	47249039	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:47249039G>A	uc002xtw.1	-	33	4429	c.4406C>T	c.(4405-4407)aCg>aTg	p.T1469M	PREX1_uc002xtv.1_Missense_Mutation_p.T766M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1469					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T1469T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCACCTTTCGTGAACAGCGC	0.677												
EEF1A2	1917	broad.mit.edu	37	20	62126254	62126254	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:62126254G>A	uc002yfe.1	-	3	691	c.525C>T	c.(523-525)agC>agT	p.S175S		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	175						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.V174A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGGCGCTGACTTCCT	0.602												
ADAMTS5	11096	broad.mit.edu	37	21	28338467	28338467	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:28338467A>C	uc002ymg.3	-	0	973	c.244T>G	c.(244-246)Tcc>Gcc	p.S82A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	82					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCGCCGCCGGAGTAGAGTTGG	0.697												
HSF2BP	11077	broad.mit.edu	37	21	44949729	44949729	+	Missense_Mutation	SNP	G	G	A	rs138290442	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:44949729G>A	uc002zdi.3	-	8	1242	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	HSF2BP_uc011aey.2_Missense_Mutation_p.R229C	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	304					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCCAGGATGCGTTGCAGGGGC	0.587												
ICOSLG	23308	broad.mit.edu	37	21	45657075	45657075	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45657075C>T	uc010gpp.1	-	2	215	c.81G>A	c.(79-81)gcG>gcA	p.A27A	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.A27A|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	27	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCTACCATCGCTCTGACTT	0.498												
PFKL	5211	broad.mit.edu	37	21	45732042	45732042	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45732042C>T	uc002zek.3	+	6	834	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PFKL_uc002zel.3_Missense_Mutation_p.R98C|PFKL_uc011afd.1_Missense_Mutation_p.R145C			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	98					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGGGAGGGGCGCCGGGCAGC	0.642												
MICAL3	57553	broad.mit.edu	37	22	18301786	18301786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:18301786G>A	uc002zng.4	-	25	3994	c.3641C>T	c.(3640-3642)tCg>tTg	p.S1214L	MICAL3_uc011agl.2_Missense_Mutation_p.S1130L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1214	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.S1214L(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTCAGATCCGAGGGGGCATC	0.622												
TSSK2	23617	broad.mit.edu	37	22	19119833	19119833	+	Silent	SNP	C	C	T	rs150037057		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19119833C>T	uc002zow.2	+	0	1513	c.921C>T	c.(919-921)ccC>ccT	p.P307P	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	307					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCTTGAGGCCCGACCACCGGC	0.637												
HIRA	7290	broad.mit.edu	37	22	19398254	19398254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19398254C>T	uc002zpf.1	-	1	305	c.85G>A	c.(85-87)Gca>Aca	p.A29T	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.A29T|HIRA_uc010gro.2_5'UTR|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	29					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.F28F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCAGTTGCGAACTTGGTC	0.408												
PI4KAP2	375133	broad.mit.edu	37	22	21829507	21829507	+	Missense_Mutation	SNP	G	G	A	rs140118179	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:21829507G>A	uc002zuv.4	-	13	3895	c.1636C>T	c.(1636-1638)Ctc>Ttc	p.L546F	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.											endometrium(3)|urinary_tract(1)	4						TACTTCAAGAGCTTGATTGTC	0.542												
TFIP11	24144	broad.mit.edu	37	22	26906086	26906086	+	Silent	SNP	G	G	A	rs150326842	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:26906086G>A	uc003acr.2	-	2	527	c.153C>T	c.(151-153)taC>taT	p.Y51Y	TFIP11_uc003acs.2_Silent_p.Y51Y|TFIP11_uc003act.2_Silent_p.Y51Y	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	51					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCCACACCCCGTAGGTGGCTT	0.567												
MCM5	4174	broad.mit.edu	37	22	35802697	35802697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:35802697C>T	uc003anu.4	+	4	669	c.575C>T	c.(574-576)gCc>gTc	p.A192V	MCM5_uc003anv.4_Missense_Mutation_p.A149V|MCM5_uc010gws.2_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	192					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAGGGCTATGCCCTGCCCAGG	0.602												
CSF2RB	1439	broad.mit.edu	37	22	37328885	37328885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:37328885G>A	uc003aqa.4	+	8	1308	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CSF2RB_uc003aqc.4_Missense_Mutation_p.R370Q	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	364	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.R364Q(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ATGAAAATGCGATACGAACAC	0.552												
FAM19A5	25817	broad.mit.edu	37	22	49042484	49042484	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:49042484G>A	uc003bim.4	+	1	305	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	FAM19A5_uc003bio.4_Missense_Mutation_p.R56Q	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	63						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		ACGATCGCCCGGCAGACCGCC	0.692												
MOV10L1	54456	broad.mit.edu	37	22	50596540	50596540	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50596540G>A	uc003bjj.3	+	22	3204	c.3121G>A	c.(3121-3123)Gtc>Atc	p.V1041I	MOV10L1_uc003bjk.4_Missense_Mutation_p.V1041I|MOV10L1_uc011arp.2_Missense_Mutation_p.V1021I|MOV10L1_uc003bjl.3_Missense_Mutation_p.V168I|MOV10L1_uc003bjm.1_Missense_Mutation_p.V84I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1041					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCCGAGGCCGTCCAGGTCCT	0.587												
NCAPH2	29781	broad.mit.edu	37	22	50957116	50957116	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50957116G>A	uc003blx.4	+	7	807	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	NCAPH2_uc003blq.4_Missense_Mutation_p.V229M|NCAPH2_uc003blv.3_Missense_Mutation_p.V229M|NCAPH2_uc003blr.4_Missense_Mutation_p.V229M	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	229					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAAGTTTCCGTGTGCAGGAG	0.647												
IL5RA	3568	broad.mit.edu	37	3	3139680	3139680	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:3139680C>T	uc011ask.2	-	7	1227	c.583G>A	c.(583-585)Gca>Aca	p.A195T	IL5RA_uc010hbq.3_Missense_Mutation_p.A195T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.A195T|IL5RA_uc011asl.2_Missense_Mutation_p.A195T|IL5RA_uc011asm.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.2_Missense_Mutation_p.A195T|IL5RA_uc011asn.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.2_Missense_Mutation_p.A195T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	195					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.A195S(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AACCAGCATGCGATATTTCTC	0.483												
SCN5A	6331	broad.mit.edu	37	3	38620857	38620857	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:38620857T>C	uc021wvo.1	-	16	3410	c.3358A>G	c.(3358-3360)Aaa>Gaa	p.K1120E	SCN5A_uc021wvk.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvn.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvp.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvq.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvr.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvs.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvt.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.K986E|SCN5A_uc021wvw.1_Missense_Mutation_p.K730E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1120					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTTCCGCTTTCCACTGCTGC	0.662												
TTC21A	199223	broad.mit.edu	37	3	39152446	39152446	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:39152446C>T	uc003cjc.2	+	3	550	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	TTC21A_uc003cja.3_Missense_Mutation_p.R125C|TTC21A_uc010hho.2_Missense_Mutation_p.R88C|TTC21A_uc003cjb.3_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R125C|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	125							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTCATAGGCCGCCATGACAA	0.502												
NBEAL2	23218	broad.mit.edu	37	3	47040042	47040042	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:47040042C>T	uc003cqp.3	+	21	3387	c.3208C>T	c.(3208-3210)Cgc>Tgc	p.R1070C	NBEAL2_uc010hjm.2_Missense_Mutation_p.R631C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1070							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)		GGATGCTCTGCGCACCCACTA	0.612											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCKIPSD	51517	broad.mit.edu	37	3	48719898	48719898	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:48719898G>C	uc003cun.3	-	2	463	c.369C>G	c.(367-369)gaC>gaG	p.D123E	NCKIPSD_uc003cum.3_Missense_Mutation_p.D123E|NCKIPSD_uc010hkh.2_Missense_Mutation_p.D123E	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	123					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAAGTGGTGGTCACTGGTTG	0.592												
P4HTM	54681	broad.mit.edu	37	3	49043241	49043241	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:49043241G>A	uc003cvh.3	+	6	1637	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	P4HTM_uc003cvg.3_Missense_Mutation_p.V369I|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	369	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TTTGAACAACGTCACTGGTGG	0.542												
TMF1	7110	broad.mit.edu	37	3	69097037	69097037	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:69097037C>T	uc011bfx.2	-	1	1066	c.819G>A	c.(817-819)gcG>gcA	p.A273A	TMF1_uc003dnn.3_Silent_p.A273A	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	273					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTCTCGAGCTCGCTGAGCTCT	0.398												
FILIP1L	11259	broad.mit.edu	37	3	99568062	99568062	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:99568062G>A	uc003dtm.3	-	4	2921	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R820C|FILIP1L_uc010hpf.3_Missense_Mutation_p.R396C|FILIP1L_uc010hpg.3_Missense_Mutation_p.R580C|FILIP1L_uc003dtn.3_Missense_Mutation_p.R580C|FILIP1L_uc021xbr.1_Missense_Mutation_p.R580C|FILIP1L_uc003dtp.1_Missense_Mutation_p.R580C	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	820						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGACTGCACGTTCCAGAGGA	0.438												
KALRN	8997	broad.mit.edu	37	3	124017688	124017688	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124017688G>A	uc003ehg.3	+	5	1141	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	KALRN_uc010hrv.1_Silent_p.T338T|KALRN_uc003ehf.1_Silent_p.T338T|KALRN_uc011bjy.1_Silent_p.T338T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	338					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGCCACACGGAGATCGGAG	0.512												
ZNF148	7707	broad.mit.edu	37	3	124951615	124951615	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124951615G>A	uc003ehx.4	-	8	2441	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.A652V|ZNF148_uc010hsa.3_Missense_Mutation_p.A652V|ZNF148_uc003eia.4_Missense_Mutation_p.A652V|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	652					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGGCATGGTGGCATAGACCTG	0.443												
CCDC37	348807	broad.mit.edu	37	3	126153184	126153184	+	Missense_Mutation	SNP	G	G	A	rs141942694	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:126153184G>A	uc010hsg.1	+	13	1650	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	CCDC37_uc003eiu.1_Missense_Mutation_p.E530K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	530										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGTCAAGATCGAGCAGGCCGA	0.637												
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:129155916G>A	uc003emh.1	-	2	747	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_uc003emi.1_Missense_Mutation_p.P191S|MBD4_uc003emj.1_Missense_Mutation_p.P191S|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Missense_Mutation_p.P191S	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	191					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443								Base excision repair (BER), DNA glycosylases				
IFT122	55764	broad.mit.edu	37	3	129195512	129195512	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:129195512G>A	uc003eml.3	+	11	1374	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	IFT122_uc003emm.3_Missense_Mutation_p.G339S|IFT122_uc003emn.3_Missense_Mutation_p.G280S|IFT122_uc003emo.3_Missense_Mutation_p.G228S|IFT122_uc003emp.3_Missense_Mutation_p.G189S|IFT122_uc010htc.3_Missense_Mutation_p.G331S|IFT122_uc011bky.2_Missense_Mutation_p.G130S|IFT122_uc011bla.2_Missense_Mutation_p.G130S|IFT122_uc003emr.3_Missense_Mutation_p.G130S|IFT122_uc011bkx.1_Missense_Mutation_p.G179S|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	339					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCAGGTGGTCGGCTGCCAGGA	0.527												
CEP63	80254	broad.mit.edu	37	3	134226076	134226076	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:134226076G>A	uc003eqo.1	+	3	619	c.170G>A	c.(169-171)cGt>cAt	p.R57H	CEP63_uc003eql.1_Missense_Mutation_p.R57H|CEP63_uc003eqm.3_Missense_Mutation_p.R57H|CEP63_uc003eqn.1_Missense_Mutation_p.R57H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	57					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.R57C(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGAAAATCCGTGAACAGGAA	0.368												
CPB1	1360	broad.mit.edu	37	3	148545842	148545842	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:148545842G>A	uc003ewl.3	+	1	148	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	42					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R42H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACATAATCCGCGAGTTGGCC	0.363												
EPHB3	2049	broad.mit.edu	37	3	184298249	184298249	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:184298249C>T	uc003foz.3	+	11	2669	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	744	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCATTGCTGCCGGCATGAAGT	0.572												
LIPH	200879	broad.mit.edu	37	3	185245282	185245282	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:185245282G>A	uc003fpm.3	-	3	728	c.618C>T	c.(616-618)tcC>tcT	p.S206S	LIPH_uc010hyh.3_Intron	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	206					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.H205N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATCAGTGTCGGAATGGATGA	0.527												
BCL6	604	broad.mit.edu	37	3	187442788	187442788	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:187442788G>A	uc003frp.3	-	8	2375	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R584W|BCL6_uc010hza.2_Missense_Mutation_p.R538W|BCL6_uc003frq.2_Missense_Mutation_p.R640W	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	640					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAAGGTGCCGGAAACGGGTG	0.557			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""							
TP63	8626	broad.mit.edu	37	3	189582118	189582118	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:189582118G>A	uc003fry.2	+	4	766	c.677G>A	c.(676-678)cGc>cAc	p.R226H	TP63_uc003frx.2_Missense_Mutation_p.R226H|TP63_uc003frz.2_Missense_Mutation_p.R226H|TP63_uc010hzc.1_Missense_Mutation_p.R226H|TP63_uc003fsa.2_Missense_Mutation_p.R132H|TP63_uc003fsb.2_Missense_Mutation_p.R132H|TP63_uc003fsc.2_Missense_Mutation_p.R132H|TP63_uc003fsd.2_Missense_Mutation_p.R132H|TP63_uc021xir.1_Missense_Mutation_p.R132H|TP63_uc010hzd.1_Missense_Mutation_p.R47H|TP63_uc003fse.1_Missense_Mutation_p.R107H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	226					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTGTTATCCGCGCCATGCCT	0.522										HNSCC(45;0.13)		
ADD1	118	broad.mit.edu	37	4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:2877779G>A	uc003gfq.3	+	1	325	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_uc010ico.1_Missense_Mutation_p.R46H|ADD1_uc003gfo.3_Missense_Mutation_p.R46H|ADD1_uc003gfp.3_Missense_Mutation_p.R46H|ADD1_uc003gfr.3_Missense_Mutation_p.R46H|ADD1_uc003gfs.3_Missense_Mutation_p.R46H|ADD1_uc003gft.3_Missense_Mutation_p.R46H	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	46					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.R46C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517												
TMPRSS11F	389208	broad.mit.edu	37	4	68964683	68964683	+	Missense_Mutation	SNP	G	G	A	rs140054355	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:68964683G>A	uc003hdt.1	-	1	134	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	29					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGAGCTAGCCGTACTGAGTCC	0.378												
RXFP1	59350	broad.mit.edu	37	4	159567947	159567947	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:159567947C>T	uc003ipz.3	+	15	1613	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RXFP1_uc010iqk.3_Silent_p.A318A|RXFP1_uc011cja.2_Silent_p.A345A|RXFP1_uc010iqo.3_Silent_p.A402A|RXFP1_uc011cjb.2_Silent_p.A348A|RXFP1_uc011cjc.2_Silent_p.A369A|RXFP1_uc011cjd.2_Silent_p.A369A|RXFP1_uc010iql.3_Silent_p.A294A|RXFP1_uc011cje.2_Silent_p.A477A|RXFP1_uc010iqm.3_Silent_p.A417A|RXFP1_uc011cjf.2_Silent_p.A319A|RXFP1_uc010iqn.3_Silent_p.A395A	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	450						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A450D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCTAGGTGCCGACTGCTTAA	0.348												
ASB5	140458	broad.mit.edu	37	4	177143569	177143569	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:177143569A>G	uc003iuq.2	-	2	393	c.279T>C	c.(277-279)ggT>ggC	p.G93G	ASB5_uc003iup.2_Silent_p.G40G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	93					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTACATTATAACCCTAAATGT	0.398												
ZFP42	132625	broad.mit.edu	37	4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:188924752C>T	uc003izh.1	+	3	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	264					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483												
NIPBL	25836	broad.mit.edu	37	5	36984865	36984865	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:36984865C>T	uc003jkl.4	+	9	2082	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	NIPBL_uc003jkk.4_Missense_Mutation_p.T528M|NIPBL_uc003jkm.1_Missense_Mutation_p.T407M	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	528					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.T528T(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTCAGGAGACGGGTTCTACG	0.448												
MAST4	375449	broad.mit.edu	37	5	66416869	66416869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:66416869C>T	uc021xzk.1	+	13	1992	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	MAST4_uc003jut.2_Nonsense_Mutation_p.R373*|MAST4_uc003juu.1_Nonsense_Mutation_p.R383*|MAST4_uc011cra.1_Nonsense_Mutation_p.R356*|MAST4_uc003juv.2_Nonsense_Mutation_p.R368*|MAST4_uc003juw.3_Nonsense_Mutation_p.R368*	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	565						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGAAACTTCGAAGGAAACC	0.313												
PDE8B	8622	broad.mit.edu	37	5	76709099	76709099	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:76709099G>A	uc003kfa.3	+	16	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	PDE8B_uc003kfd.3_Missense_Mutation_p.A579T|PDE8B_uc003kfe.3_Missense_Mutation_p.A529T|PDE8B_uc003kfb.3_Missense_Mutation_p.A606T|PDE8B_uc003kfc.3_Missense_Mutation_p.A571T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	626	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGTCCTGCACGCCACCGCTTT	0.478												
FBXL17	64839	broad.mit.edu	37	5	107684192	107684192	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:107684192C>T	uc011cvc.2	-	3	1821	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	FBXL17_uc003kon.4_Missense_Mutation_p.G74S	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	472										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TAACACTGGCCGAAATGAATA	0.368												
KCNN2	3781	broad.mit.edu	37	5	113740527	113740527	+	Silent	SNP	C	C	T	rs147034356	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:113740527C>T	uc003kqo.3	+	2	1432	c.975C>T	c.(973-975)gcC>gcT	p.A325A		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	325						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A325G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GGATAATTGCCGCATGGACTG	0.328												
PCDHAC2	56145	broad.mit.edu	37	5	140180853	140180853	+	Missense_Mutation	SNP	C	C	T	rs147990915		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140180853C>T	uc003lhf.2	+	0	71	c.71C>T	c.(70-72)tCg>tTg	p.S24L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S24L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	37					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCAGCCTCGGAGGTGGGG	0.597												
PCDHAC2	56144	broad.mit.edu	37	5	140188279	140188279	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140188279G>A	uc003lhi.2	+	0	1608	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A503T|PCDHAC2_uc011daa.2_Missense_Mutation_p.A503T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGAGCGCGCGCTGTCGAG	0.662												
PCDHB4	56131	broad.mit.edu	37	5	140502471	140502471	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140502471G>A	uc003lip.1	+	0	891	c.891G>A	c.(889-891)acG>acA	p.T297T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	297	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAAGTCACGGGAGAAATAC	0.358												
PCDHGC5	56114	broad.mit.edu	37	5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140712338C>T	uc003lji.2	+	0	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGC5_uc011dan.2_Missense_Mutation_p.A696V	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A696V(2)|p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672												
PCDHGC5	56100	broad.mit.edu	37	5	140789386	140789386	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140789386G>A	uc003lkj.2	+	0	1617	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.S539S	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGGCTCGCCCACGCTCA	0.701												
PCDHGC5	56105	broad.mit.edu	37	5	140802272	140802272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140802272C>T	uc003lkq.2	+	0	1736	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.T493M|PCDHGC5_uc003lkp.2_Missense_Mutation_p.T493M	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	494	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCTCTGACGGATGACACT	0.532												
PDGFRB	5159	broad.mit.edu	37	5	149497261	149497261	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:149497261G>A	uc003lro.3	-	21	3526	c.3057C>T	c.(3055-3057)aaC>aaT	p.N1019N	PDGFRB_uc010jhd.3_Silent_p.N858N	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1019					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.N1019N(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATATAGTCGTTGTCACCCT	0.642			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""							
FGF18	8817	broad.mit.edu	37	5	170883601	170883601	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:170883601C>T	uc003mbk.3	+	4	953	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	139					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACAACTACACGGCCCTGATG	0.592												
TSPAN17	26262	broad.mit.edu	37	5	176078841	176078841	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:176078841G>A	uc003met.3	+	2	454	c.225G>A	c.(223-225)tcG>tcA	p.S75S	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Silent_p.S75S|TSPAN17_uc003mew.3_Silent_p.S75S	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	75						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTCATGTCGGTGCTGGGCT	0.612												
WRNIP1	56897	broad.mit.edu	37	6	2770518	2770518	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:2770518C>T	uc003mtz.3	+	2	1370	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	WRNIP1_uc003mua.3_Silent_p.I368I	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	393					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCGAGCGATCAACTCCCTGG	0.532												
PIP5K1P1	206426	broad.mit.edu	37	6	7987550	7987550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:7987550C>T	uc003mxx.4	+	0	1216	c.781C>T	c.(781-783)Cga>Tga	p.R261*	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		CCAGAAAGAGCGAGAGAAGCC	0.428												
SLC35B3	51000	broad.mit.edu	37	6	8422856	8422856	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:8422856T>C	uc011did.2	-	5	797	c.420_splice	c.e5-1	p.R140_splice	SLC35B3_uc003myc.3_Intron|SLC35B3_uc003myd.3_Splice_Site|SLC35B3_uc010joe.3_Splice_Site_p.R140_splice|SLC35B3_uc003myb.3_Splice_Site_p.R140_splice	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	140					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTTCCTGGTATTCTGTAAAAG	0.338												
HIVEP1	3096	broad.mit.edu	37	6	12124017	12124017	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:12124017C>T	uc003nac.3	+	3	4168	c.3989C>T	c.(3988-3990)aCg>aTg	p.T1330M	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1330					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.T1330T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTTTCTAAAACGGAGGCTTCC	0.433												
SIRT5	23408	broad.mit.edu	37	6	13588650	13588650	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:13588650C>T	uc003nay.3	+	3	515	c.203C>T	c.(202-204)cCg>cTg	p.P68L	SIRT5_uc003naw.3_Missense_Mutation_p.P68L|SIRT5_uc003nax.3_Intron|SIRT5_uc011dit.2_Missense_Mutation_p.P68L	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	68	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	AGTGGTGTTCCGACCTTCAGA	0.423												
SCAND3	114821	broad.mit.edu	37	6	28554340	28554340	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:28554340C>T	uc003nlo.3	-	0	773	c.155G>A	c.(154-156)cGt>cAt	p.R52H	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	52	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAAGCGCTGACGAGAGAGTTC	0.507												
CSNK2B	1460	broad.mit.edu	37	6	31637206	31637206	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31637206G>A	uc003nvr.1	+	5	818	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	160					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CGCCTACTTCGGCACTGGTTT	0.562												
EHMT2	10919	broad.mit.edu	37	6	31852241	31852241	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31852241G>A	uc003nxz.1	-	20	2709	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	EHMT2_uc003nxx.1_Missense_Mutation_p.A98V|EHMT2_uc003nxy.1_Missense_Mutation_p.A698V|EHMT2_uc011don.1_Missense_Mutation_p.A923V|EHMT2_uc003nya.1_Missense_Mutation_p.A866V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	900					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGTTGAAGCGCAAACCACAC	0.612												
CYP21A2	1589	broad.mit.edu	37	6	32008215	32008215	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:32008215C>T	uc003nze.2	+	7	1079	c.972C>T	c.(970-972)caC>caT	p.H324H	CYP21A2_uc003nzf.2_Silent_p.H294H	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	323					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AGCTAGACCACGAACTGGGCC	0.677												
USP49	25862	broad.mit.edu	37	6	41773646	41773646	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:41773646C>T	uc003ori.3	-	3	1298	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	359					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCAGTTCACGGCAGAGGGA	0.602												
GPR116	221395	broad.mit.edu	37	6	46836637	46836637	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836637G>A	uc003oyo.3	-	11	1893	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	GPR116_uc011dwj.1_Missense_Mutation_p.S90L|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S393L|GPR116_uc003oyq.3_Missense_Mutation_p.S535L|GPR116_uc010jzi.1_Missense_Mutation_p.S207L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	535	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTCCCTGGTCGAGGTCTTGAC	0.448												
GPR116	221395	broad.mit.edu	37	6	46836810	46836810	+	Silent	SNP	C	C	T	rs150327469		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836810C>T	uc003oyo.3	-	11	1720	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	GPR116_uc011dwj.1_Silent_p.P32P|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Silent_p.P335P|GPR116_uc003oyq.3_Silent_p.P477P|GPR116_uc010jzi.1_Silent_p.P149P	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	477	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAATTGGGTCCGGGGTTATTG	0.363												
TAB2	23118	broad.mit.edu	37	6	149699411	149699411	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:149699411A>G	uc003qmj.3	+	2	538	c.360A>G	c.(358-360)gaA>gaG	p.E120E	TAB2_uc011eec.2_Silent_p.E88E|TAB2_uc010kia.1_Silent_p.E120E|TAB2_uc010kib.2_Silent_p.E120E|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	120					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAATAGTGAACTATTTCAGC	0.458												
MLLT4	4301	broad.mit.edu	37	6	168348980	168348980	+	Missense_Mutation	SNP	C	C	T	rs145954704	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:168348980C>T	uc021zik.1	+	27	3828	c.3509C>T	c.(3508-3510)aCg>aTg	p.T1170M	MLLT4_uc003qwb.1_Missense_Mutation_p.T1195M|MLLT4_uc003qwc.2_Missense_Mutation_p.T1211M|MLLT4_uc021zij.1_Missense_Mutation_p.T1194M|MLLT4_uc021zim.1_Missense_Mutation_p.T757M|MLLT4_uc003qwg.1_Missense_Mutation_p.T520M	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1211					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGGAGCAGACGCCTCCGCCT	0.418			T	MLL	AL							
SDK1	221935	broad.mit.edu	37	7	4091337	4091337	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4091337G>A	uc003smx.3	+	18	2925	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	SDK1_uc010kso.3_Missense_Mutation_p.G205E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	929	Fibronectin type-III 3.				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)		GATTTCCACGGAGTCCACCAT	0.567												
PAPOLB	56903	broad.mit.edu	37	7	4900644	4900644	+	Silent	SNP	C	C	T	rs112213840		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4900644C>T	uc003snk.3	-	0	982	c.798G>A	c.(796-798)gcG>gcA	p.A266A	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	265					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CAAGAGTTGACGCTACTGCAT	0.428												
FBXL18	80028	broad.mit.edu	37	7	5521489	5521489	+	Silent	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5521489G>T	uc003son.4	-	4	2168	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGACGTCCCGGATGACGTCG	0.642												
FBXL18	80028	broad.mit.edu	37	7	5540355	5540355	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5540355G>A	uc003soo.2	-	2	1639	c.1545C>T	c.(1543-1545)cgC>cgT	p.R515R	FBXL18_uc003son.4_Silent_p.R515R	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	515									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CACTCTGTGCGCGGCTGCAGG	0.687												
MRPL32	64983	broad.mit.edu	37	7	42974713	42974713	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:42974713C>T	uc003tia.3	+	1	337	c.290C>T	c.(289-291)cCg>cTg	p.P97L	C7orf25_uc010kxr.3_5'Flank|PSMA2_uc003thy.3_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	97					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAGAAATCCGCAGAAGCTT	0.408												
ZMIZ2	83637	broad.mit.edu	37	7	44806136	44806136	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:44806136G>A	uc003tlr.3	+	17	2652	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	ZMIZ2_uc003tlq.3_Silent_p.A785A|ZMIZ2_uc003tls.3_Silent_p.A817A|ZMIZ2_uc003tlt.3_Silent_p.A466A|ZMIZ2_uc010kyj.3_Silent_p.A365A|ZMIZ2_uc003tlu.3_Silent_p.A124A|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	843	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTCCCCCAGCGTCCCGGCAGT	0.647												
TNS3	64759	broad.mit.edu	37	7	47342939	47342939	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:47342939G>A	uc003tnw.3	-	21	3424	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	TNS3_uc022acn.1_Silent_p.F579F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1022						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGCGGTGCCGAAGCCCAGGA	0.682												
POM121L12	285877	broad.mit.edu	37	7	53104043	53104043	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:53104043G>T	uc003tpz.3	+	0	695	c.679G>T	c.(679-681)Gct>Tct	p.A227S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	227								p.A227S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCGGTTGCTTCCTTCGT	0.647												
ZNF107	51427	broad.mit.edu	37	7	64168851	64168851	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:64168851A>G	uc003ttd.3	+	6	2955	c.2169A>G	c.(2167-2169)gaA>gaG	p.E723E	ZNF107_uc003tte.3_Silent_p.E723E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATGTGAAGAATGTGGCA	0.348												
CALN1	83698	broad.mit.edu	37	7	71252795	71252795	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:71252795C>T	uc003twb.4	-	6	1142	c.751G>A	c.(751-753)Gca>Aca	p.A251T	CALN1_uc003twa.4_Missense_Mutation_p.A209T|CALN1_uc003twc.4_Missense_Mutation_p.A209T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	209						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGTTGGCTGCAATCAGCATG	0.587												
RHBDD2	57414	broad.mit.edu	37	7	75511205	75511205	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:75511205C>T	uc003udw.1	+	1	321	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	79						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGCTCTGCGGCGCTATCATCA	0.567												
ZAN	7455	broad.mit.edu	37	7	100350423	100350423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:100350423C>T	uc003uwj.3	+	13	2860	c.2695C>T	c.(2695-2697)Ctc>Ttc	p.L899F	ZAN_uc003uwk.3_Missense_Mutation_p.L899F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	899	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGAAAAACTCACCATCCC	0.517												
SLC26A5	375611	broad.mit.edu	37	7	103014906	103014906	+	Silent	SNP	C	C	A	rs138320783	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103014906C>A	uc003vbz.3	-	19	2437	c.2175G>T	c.(2173-2175)tcG>tcT	p.S725S	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.S693S	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	725					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGGGGGAGCCGAGGCTTCCT	0.532												
RELN	5649	broad.mit.edu	37	7	103162532	103162532	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103162532G>A	uc022ajr.1	-	47	7765	c.7605C>T	c.(7603-7605)aaC>aaT	p.N2535N	RELN_uc022ajq.1_Silent_p.N2535N|RELN_uc010liz.3_Silent_p.N2535N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2535					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTCCCTCCGTTCACAGTCA	0.532												
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	rs35288952		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:117375046C>T	uc003vjf.3	-	15	3889	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1266										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532												
AASS	10157	broad.mit.edu	37	7	121773679	121773679	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:121773679G>A	uc003vka.3	-	0	198	c.102C>T	c.(100-102)aaC>aaT	p.N34N	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.N34N|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	34	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTCCCAGGCGTTCACATCCT	0.582												
NRF1	4899	broad.mit.edu	37	7	129357145	129357145	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:129357145G>A	uc003vpa.3	+	8	1272	c.1152G>A	c.(1150-1152)tcG>tcA	p.S384S	NRF1_uc003voz.3_Silent_p.S384S|NRF1_uc011kpa.2_Silent_p.S223S|NRF1_uc003vpb.3_Silent_p.S384S	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	384	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGGTGGCATCGTTGGCAGAGG	0.572												
CPA1	1357	broad.mit.edu	37	7	130021608	130021608	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:130021608G>A	uc003vpx.3	+	2	357	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_uc011kpf.1_Silent_p.S7S|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	95					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HIPK2	28996	broad.mit.edu	37	7	139259877	139259877	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:139259877G>C	uc003vvf.4	-	13	3394	c.3123C>G	c.(3121-3123)agC>agG	p.S1041R	HIPK2_uc003vvd.4_Missense_Mutation_p.S1014R	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1041	Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCTTACCTGGCTGAGATTGA	0.672												
ZNF425	155054	broad.mit.edu	37	7	148815402	148815402	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:148815402C>T	uc003wfj.3	-	1	190	c.57G>A	c.(55-57)tcG>tcA	p.S19S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	19	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S19S(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCTTGTTCCGAAAAATATA	0.393												
SLC4A2	6522	broad.mit.edu	37	7	150771186	150771186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:150771186G>A	uc022apz.1	+	16	3636	c.2596G>A	c.(2596-2598)Ggt>Agt	p.G866S	SLC4A2_uc003wit.4_Missense_Mutation_p.G866S|SLC4A2_uc011kve.2_Missense_Mutation_p.G857S|SLC4A2_uc003wiu.4_Missense_Mutation_p.G852S	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	866	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGACGGCGGTGAGAACAT	0.677												
MLL3	58508	broad.mit.edu	37	7	151878185	151878185	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:151878185C>T	uc003wla.3	-	35	6979	c.6760G>A	c.(6760-6762)Gca>Aca	p.A2254T	MLL3_uc003wkz.3_Missense_Mutation_p.A1315T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2254	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.A2254T(3)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CGGTTTTGTGCTGCTTGCAGG	0.527			N		medulloblastoma							
HTR5A	3361	broad.mit.edu	37	7	154863298	154863298	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:154863298G>A	uc003wlu.1	+	0	753	c.689G>A	c.(688-690)cGc>cAc	p.R230H	LOC100128264_uc003wlt.2_5'Flank|LOC100128264_uc011kvt.1_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	230						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCAAGTTCCGCGTGGGCTCC	0.542												
PTPRN2	5799	broad.mit.edu	37	7	157370776	157370776	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:157370776G>A	uc003wno.3	-	17	2674	c.2553C>T	c.(2551-2553)aaC>aaT	p.N851N	PTPRN2_uc003wnp.3_Silent_p.N834N|PTPRN2_uc003wnq.3_Silent_p.N822N|PTPRN2_uc003wnr.3_Silent_p.N813N|PTPRN2_uc011kwa.2_Silent_p.N874N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	851	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGGACGCCGTTCTCCGCGA	0.622												
VIPR2	7434	broad.mit.edu	37	7	158896531	158896531	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:158896531T>C	uc003woh.3	-	3	460	c.274A>G	c.(274-276)Aac>Gac	p.N92D	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	92					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTCGTACAGTTTTTGCTTATG	0.512												
KIAA1429	25962	broad.mit.edu	37	8	95521969	95521969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:95521969G>A	uc003ygo.2	-	14	3897	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1276					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACTGTTGGCGAATAACACTG	0.373												
TG	7038	broad.mit.edu	37	8	133880437	133880437	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:133880437G>A	uc003ytw.3	+	1	186	c.145G>A	c.(145-147)Gtg>Atg	p.V49M		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	49	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGACTACGTGCCCCAGTG	0.532												
ZNF623	9831	broad.mit.edu	37	8	144732159	144732159	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:144732159G>A	uc003yzd.2	+	0	206	c.117G>A	c.(115-117)acG>acA	p.T39T	ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T39T(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGACTCACGGTGATGGAGC	0.522												
KIAA2026	158358	broad.mit.edu	37	9	5988438	5988438	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:5988438C>T	uc003zjq.4	-	1	917	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	234								p.R234Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGCCAAACTTCGCGGTGTTGA	0.423												
ACER2	340485	broad.mit.edu	37	9	19423911	19423911	+	Missense_Mutation	SNP	C	C	T	rs145427232		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:19423911C>T	uc003zny.1	+	1	318	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Missense_Mutation_p.R5C	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	54					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.R54C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						GTGCTTGTTTCGTCAGTATGC	0.398												
CCIN	881	broad.mit.edu	37	9	36169599	36169599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:36169599G>A	uc003zzb.4	+	0	211	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	34	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGCCCTGAGTGTGGACAACCA	0.502												
C9orf174	57653	broad.mit.edu	37	9	100126341	100126341	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:100126341C>T	uc011lut.2	+	42	5466	c.4460C>T	c.(4459-4461)cCg>cTg	p.P1487L	C9orf174_uc004axe.2_Missense_Mutation_p.P1293L|C9orf174_uc011lus.2_Intron|C9orf174_uc004axg.2_Missense_Mutation_p.P1348L|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1293						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						AGCTTCACACCGCACCCCAAG	0.592												
SVEP1	79987	broad.mit.edu	37	9	113228166	113228166	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:113228166C>T	uc010mtz.3	-	17	3638	c.3301G>A	c.(3301-3303)Gtg>Atg	p.V1101M	SVEP1_uc010mua.1_Missense_Mutation_p.V1101M	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1101					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAATGTTCACGGCTCCTCTT	0.438												
COL27A1	85301	broad.mit.edu	37	9	116994128	116994128	+	Silent	SNP	C	C	T	rs144760825		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:116994128C>T	uc011lxl.2	+	15	2547	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	849	Collagen-like 4.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGGGAGCCCGGACTGAAAG	0.577												
DAB2IP	153090	broad.mit.edu	37	9	124528842	124528842	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:124528842G>A	uc004bln.3	+	8	1515	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	DAB2IP_uc004blo.3_Silent_p.P386P|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	510	Ras-GAP.			I -> T (in Ref. 1; AAM00371).	activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.A481T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGGCCGCCCGGACATCAGTG	0.617												
RC3H2	54542	broad.mit.edu	37	9	125617558	125617558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125617558G>A	uc010mwc.1	-	14	2961	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.A907V|RC3H2_uc004bne.4_Missense_Mutation_p.A907V	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	907						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCTGGAAATCGCACCCCATTT	0.443												
STRBP	55342	broad.mit.edu	37	9	125922701	125922701	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125922701C>T	uc004bns.3	-	7	1110	c.668G>A	c.(667-669)cGc>cAc	p.R223H	STRBP_uc004bnt.3_Missense_Mutation_p.R41H|STRBP_uc004bnu.3_Missense_Mutation_p.R209H|STRBP_uc004bnv.3_Missense_Mutation_p.R223H	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	223	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACGCAGAATGCGGAGGACAAT	0.393												
NTNG2	84628	broad.mit.edu	37	9	135073844	135073844	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:135073844G>A	uc004cbh.2	+	2	1481	c.705G>A	c.(703-705)acG>acA	p.T235T		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	235	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTCTACACGCGGCTGGAGA	0.677												
SEC16A	9919	broad.mit.edu	37	9	139350207	139350207	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:139350207C>T	uc004chx.3	-	19	6012	c.5703G>A	c.(5701-5703)ccG>ccA	p.P1901P	SEC16A_uc004chs.3_5'Flank|SEC16A_uc004cht.3_5'Flank|SEC16A_uc004chu.3_Silent_p.P86P|SEC16A_uc004chv.4_Silent_p.P1291P|SEC16A_uc004chw.3_Silent_p.P1901P|SEC16A_uc010nbn.3_Silent_p.P1901P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1723	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GACACTGCTGCGGGAGGGCTC	0.667												
SLC34A3	142680	broad.mit.edu	37	9	140128881	140128881	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140128881G>A	uc022bqf.1	+	10	1328	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	SLC34A3_uc011met.2_Silent_p.P369P|SLC34A3_uc004cmf.1_Silent_p.P369P	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	369					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCCCTTCCCGCTGGGCTGGC	0.716												
PNPLA7	375775	broad.mit.edu	37	9	140356687	140356687	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140356687G>A	uc010ncj.1	-	30	3926	c.3589C>T	c.(3589-3591)Cgc>Tgc	p.R1197C	PNPLA7_uc004cnd.1_Missense_Mutation_p.R419C|PNPLA7_uc004cne.1_Missense_Mutation_p.R438C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R580C|PNPLA7_uc004cnf.2_Missense_Mutation_p.R1172C|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1172					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATGGGGGGGCGCAGGTACTCG	0.647												
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140361890G>A	uc010ncj.1	-	25	3255	c.2918C>T	c.(2917-2919)gCg>gTg	p.A973V	PNPLA7_uc004cnd.1_Missense_Mutation_p.A214V|PNPLA7_uc004cne.1_Missense_Mutation_p.A214V|PNPLA7_uc011mfa.1_Missense_Mutation_p.A356V|PNPLA7_uc004cnf.2_Missense_Mutation_p.A948V	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	948	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652												
ZBED1	9189	broad.mit.edu	37	X	2408513	2408513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:2408513G>A	uc022brx.1	-	0	248	c.248C>T	c.(247-249)aCg>aTg	p.T83M	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.T83M|ZBED1_uc004cqg.2_Missense_Mutation_p.T83M|ZBED1_uc022brw.1_Missense_Mutation_p.T83M	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	83						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCTGCTCCGTGTTGCTCTT	0.632												
HDHD1	8226	broad.mit.edu	37	X	6995419	6995419	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:6995419C>T	uc004crv.2	-	2	429	c.352G>A	c.(352-354)Gcg>Acg	p.A118T	HDHD1_uc011mhm.1_Missense_Mutation_p.A141T|HDHD1_uc011mhn.1_Missense_Mutation_p.A75T|HDHD1_uc010ndl.2_Intron|HDHD1_uc011mho.1_Missense_Mutation_p.A118T	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA.	118					nucleotide metabolic process		metal ion binding|phosphatase activity	p.S118C(1)		breast(2)|large_intestine(1)|lung(3)	6						TCGAACGACGCGGACCCCGAG	0.582												
CXorf22	170063	broad.mit.edu	37	X	35993898	35993898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:35993898C>T	uc004ddj.3	+	14	2647	c.2581C>T	c.(2581-2583)Cga>Tga	p.R861*	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGAGACCACGAGGCTTCTT	0.438												
BMP15	9210	broad.mit.edu	37	X	50659329	50659329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:50659329C>T	uc011mnw.2	+	1	950	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	301					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498												
ATRX	546	broad.mit.edu	37	X	76814187	76814187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:76814187G>A	uc004ecp.4	-	28	6689	c.6457C>T	c.(6457-6459)Cgc>Tgc	p.R2153C	ATRX_uc004ecq.4_Missense_Mutation_p.R2115C|ATRX_uc004eco.4_Missense_Mutation_p.R1938C	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2153	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R2153C(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTCCAAAGCGATAAACTCTG	0.333			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
PCDH19	57526	broad.mit.edu	37	X	99662086	99662086	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:99662086T>C	uc010nmz.3	-	0	3186	c.1510A>G	c.(1510-1512)Acc>Gcc	p.T504A	PCDH19_uc004efw.4_Missense_Mutation_p.T504A|PCDH19_uc004efx.4_Missense_Mutation_p.T504A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	504	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGACATAGGTGAAGACAGGC	0.577												
FLNA	2316	broad.mit.edu	37	X	153580717	153580717	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153580717G>A	uc004fkk.2	-	40	6850	c.6601C>T	c.(6601-6603)Cgc>Tgc	p.R2201C	FLNA_uc011mzn.1_Missense_Mutation_p.R334C|FLNA_uc010nuu.1_Missense_Mutation_p.R2193C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2201					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAACAAAGCGGATGCAGTAG	0.597												
FLNA	2316	broad.mit.edu	37	X	153587696	153587696	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153587696G>A	uc004fkk.2	-	24	4470	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1407					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632												
