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
PLCH2	9651	broad.mit.edu	37	1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:2411398G>A	uc001aji.1	+	2	771	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	166					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687												
PTPN22	26191	broad.mit.edu	37	1	114399229	114399229	+	Missense_Mutation	SNP	G	G	A	rs115552198	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:114399229G>A	uc001eds.3	-	5	551	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LOC100287722_uc001edv.1_5'Flank|PTPN22_uc021orx.1_Missense_Mutation_p.R141C|PTPN22_uc009wgq.3_Missense_Mutation_p.R141C|PTPN22_uc021ory.1_Intron|PTPN22_uc010owo.2_Intron|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R141C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.R141C	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	141	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGTAGCGCTCACACTTT	0.438												
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:152324558_152324559delTG	uc001ezw.4	-	2	5776_5777	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.H1901fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515												
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:214557049_214557051delCCT	uc001hkk.2	-	12	2800_2802	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626												
SUV39H2	79723	broad.mit.edu	37	10	14938880	14938880	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:14938880G>T	uc021png.1	+	2	319	c.213G>T	c.(211-213)tgG>tgT	p.W71C	SUV39H2_uc001ing.3_Missense_Mutation_p.W71C|SUV39H2_uc001inh.3_Missense_Mutation_p.W11C|SUV39H2_uc001ini.3_Missense_Mutation_p.W11C|SUV39H2_uc021pnh.1_Missense_Mutation_p.W11C|SUV39H2_uc001inj.3_Missense_Mutation_p.W11C	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	71	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GGAAAGGATGGCCAGATTCTA	0.323												
MKI67	4288	broad.mit.edu	37	10	129901939	129901947	+	In_Frame_Del	DEL	CTCTTTGTG	CTCTTTGTG	-	rs1050767	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:129901939_129901947delCTCTTTGTG	uc001lke.3	-	12	8352_8360	c.8157_8165delCACAAAGAG	c.(8155-8166)agcacaaagagg>agg	p.STK2719del	MKI67_uc001lkf.3_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2719	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGATGCCTCTTTGTGCTTGCTGTGG	0.483												
SYTL2	54843	broad.mit.edu	37	11	85445443	85445443	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:85445443C>T	uc010rth.2	-	5	1315	c.926G>A	c.(925-927)aGa>aAa	p.R309K	SYTL2_uc010rtg.2_Missense_Mutation_p.R310K|SYTL2_uc010rti.2_Missense_Mutation_p.R309K|SYTL2_uc010rtj.2_Missense_Mutation_p.R261K|SYTL2_uc001pbf.4_Missense_Mutation_p.R309K|SYTL2_uc010rtf.2_Missense_Mutation_p.R167K	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	309					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCAGAAATTCTCTCATGGAT	0.438												
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:115080343G>T	uc001ppi.4	-	7	1158	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Silent_p.T95T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(10)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433												
PDZD3	79849	broad.mit.edu	37	11	119058000	119058000	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:119058000A>T	uc001pwb.3	+	2	1074	c.550A>T	c.(550-552)Agc>Tgc	p.S184C	PDZD3_uc001pvz.3_Missense_Mutation_p.S118C|PDZD3_uc010rzd.2_Missense_Mutation_p.S105C|PDZD3_uc001pvy.3_Missense_Mutation_p.S118C|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	184	PDZ 1.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CATCCGGGCCAGCAGCCCTCG	0.632												
PRIM1	5557	broad.mit.edu	37	12	57140741	57140741	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:57140741T>C	uc001smd.3	-	2	401	c.337A>G	c.(337-339)Aca>Gca	p.T113A		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	113					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TCATAGTCTGTCATGTCAATG	0.428												
IL26	55801	broad.mit.edu	37	12	68619487	68619487	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:68619487G>C	uc001stx.1	-	0	85	c.50C>G	c.(49-51)tCt>tGt	p.S17C		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	17					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		AATGGCAAGAGACAGAGTGAC	0.478												
MIPEP	4285	broad.mit.edu	37	13	24448985	24448985	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:24448985C>T	uc001uox.4	-	5	731	c.603_splice	c.e5+1	p.K201_splice		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	201					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAAGATGTACCTTTTCTTTGT	0.333												
BIVM-ERCC5	2073	broad.mit.edu	37	13	103520596	103520596	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:103520596C>T	uc001vpu.2	+	19	4151	c.4029C>T	c.(4027-4029)ctC>ctT	p.L1343L	BIVM-ERCC5_uc001vpw.3_Silent_p.L889L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.L721L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1314					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGGAACCTCTCCTAAAATTCT	0.373												
ARHGEF7	8874	broad.mit.edu	37	13	111896312	111896315	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:111896312_111896315delAAGT	uc001vrs.2	+	8	1167	c.917_splice	c.e8+1	p.K306_splice	ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.4_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.2_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	306	DH.				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)			GACCAGTGAGAAGTAAGTTAGATG	0.324												
DLK1	8788	broad.mit.edu	37	14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr14:101200827C>T	uc001yhs.4	+	4	950	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.A249V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AAGAAGCGCGCGCTGAGCCCC	0.682												
SIN3A	25942	broad.mit.edu	37	15	75693090	75693090	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr15:75693090C>T	uc002bai.3	-	10	1977	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	SIN3A_uc002baj.3_Missense_Mutation_p.R573Q|SIN3A_uc010uml.2_Missense_Mutation_p.R573Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	573	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				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						GAGAGGAGTCCGTCCTGTACA	0.493												
WASH1	100287171	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:66940G>A	uc002cfg.1	-	4	1355	c.696C>T	c.(694-696)agC>agT	p.S232S		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	219					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	early endosome membrane|recycling endosome membrane|WASH complex	actin binding|alpha-tubulin binding	p.S232S(1)				all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTCTCTCTTGCTGATGGACA	0.597												
PKD1	5310	broad.mit.edu	37	16	2156265	2156265	+	Silent	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:2156265G>A	uc002cos.1	-	18	7739	c.7530C>T	c.(7528-7530)taC>taT	p.Y2510Y	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2510	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGCAGGGCGTACACCAGCG	0.687												
CREBBP	1387	broad.mit.edu	37	16	3779062	3779062	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:3779062C>T	uc002cvv.3	-	30	6190	c.5986G>A	c.(5986-5988)Gcc>Acc	p.A1996T	CREBBP_uc002cvw.3_Missense_Mutation_p.A1958T	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1996					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCACGGGGGCCATCTGGCTC	0.697			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome					
ANKS3	124401	broad.mit.edu	37	16	4755095	4755095	+	Splice_Site	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:4755095C>T	uc002cxj.2	-	8	1163	c.868_splice	c.e8+1	p.E290_splice	ANKS3_uc002cxi.2_Splice_Site_p.E217_splice|ANKS3_uc021tcj.1_Splice_Site_p.E161_splice|ANKS3_uc021tck.1_Splice_Site_p.E183_splice|ANKS3_uc002cxk.3_Splice_Site_p.E161_splice|ANKS3_uc010uxs.2_Splice_Site_p.E217_splice|ANKS3_uc002cxm.3_Splice_Site_p.E84_splice	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	290										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCCACTCACCATAGCGAGG	0.597												
CNGB1	1258	broad.mit.edu	37	16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:57918280C>T	uc002emt.2	-	32	3609	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1182					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.D1182N(2)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCGGGTGGGTCGGTGGCGGCC	0.721												
KRT39	390792	broad.mit.edu	37	17	39116542	39116542	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr17:39116542G>A	uc002hvo.1	-	5	1244	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	KRT39_uc010wfm.1_Missense_Mutation_p.S136L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	403	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.S403S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTTGCCATCCGAGCTCTCCAG	0.468												
ONECUT2	9480	broad.mit.edu	37	18	55103358	55103358	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr18:55103358C>T	uc002lgo.3	+	0	442	c.410C>T	c.(409-411)tCg>tTg	p.S137L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	137					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCTGCGACTCGTCTCCGCCT	0.652												
APC2	10297	broad.mit.edu	37	19	1466495	1466496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:1466495_1466496insT	uc002lsr.1	+	14	3403_3404	c.3195_3196insT	c.(3193-3198)ctctcgfs	p.L1065fs	APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1065	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGCCACTCTCGCTGTCCCG	0.683												
CELF5	60680	broad.mit.edu	37	19	3293345	3293345	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:3293345C>T	uc002lxm.3	+	11	1396	c.1359C>T	c.(1357-1359)agC>agT	p.S453S	CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	453	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCCGGCCAGCGCCCAGGCAG	0.622												
TNFSF14	8740	broad.mit.edu	37	19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6664993G>A	uc002mfk.2	-	4	1049	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNFSF14_uc002mfj.2_Missense_Mutation_p.R187C	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	223					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.R223C(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612												
TNFSF14	8740	broad.mit.edu	37	19	6665273	6665273	+	Silent	SNP	G	G	A	rs147375196		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6665273G>A	uc002mfk.2	-	4	769	c.387C>T	c.(385-387)caC>caT	p.H129H	TNFSF14_uc002mfj.2_Silent_p.H93H	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	129					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGGCCCCATCGTGGTAGCTGA	0.647												
LRRC8E	80131	broad.mit.edu	37	19	7964176	7964176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:7964176C>T	uc002mir.3	+	2	870	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	257						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CATGTACATCCGACAGACGGT	0.532												
LDLR	3949	broad.mit.edu	37	19	11221368	11221368	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:11221368C>T	uc002mqk.4	+	6	1168	c.981C>T	c.(979-981)caC>caT	p.H327H	LDLR_uc010xlk.2_Silent_p.H327H|LDLR_uc010xll.2_Silent_p.H286H|LDLR_uc021upc.1_Silent_p.H206H|LDLR_uc010xln.2_Silent_p.H200H|LDLR_uc010xlo.2_Silent_p.H159H|LDLR_uc010xlm.2_Silent_p.H180H|LDLR_uc021upd.1_Silent_p.H64H	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	327	EGF-like 1.		H -> Y (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCTGTTCCCACGTCTGCAATG	0.627												
FFAR2	2867	broad.mit.edu	37	19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:35941517C>T	uc002nzg.2	+	1	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_uc010eea.3_Missense_Mutation_p.R301C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	301						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.R301H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567												
PSG3	440533	broad.mit.edu	37	19	43359720	43359720	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:43359720C>G	uc002oug.1	-						PSG3_uc002ouf.3_Intron|PSG3_uc002oun.3_Intron|PSG10P_uc010eip.3_Non-coding_Transcript			Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 3, mRNA.						defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGAGCAGGACCCCCTTCCAT	0.567												
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581												
KIR3DL2	3809	broad.mit.edu	37	19	55351111	55351111	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55351111C>T	uc002qhm.1	+	4	643	c.597C>T	c.(595-597)taC>taT	p.Y199Y	KIR3DL2_uc010yfj.2_Missense_Mutation_p.T193M|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.T200M|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	302	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACGCTCCCTACGAGTGGTCAA	0.562												
NLRP2	55655	broad.mit.edu	37	19	55495082	55495082	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55495082C>T	uc021vbq.1	+	5	2127	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	NLRP2_uc010yfp.2_Silent_p.D649D|NLRP2_uc002qij.3_Silent_p.D672D|NLRP2_uc010esp.3_Silent_p.D650D|NLRP2_uc010esn.3_Silent_p.D648D|NLRP2_uc010eso.3_Silent_p.D669D	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	672					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGAATCAGACGCCGAGGTTG	0.507												
PTPRH	5794	broad.mit.edu	37	19	55693402	55693402	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55693402C>T	uc002qjq.3	-	18	3253	c.3180G>A	c.(3178-3180)ccG>ccA	p.P1060P	PTPRH_uc010esv.3_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1060	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCACCATCAACGGCCGACTCT	0.637												
DYSF	8291	broad.mit.edu	37	2	71801344	71801344	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:71801344C>T	uc010fen.3	+	29	3386	c.3245C>T	c.(3244-3246)gCg>gTg	p.A1082V	DYSF_uc010fei.3_Missense_Mutation_p.A1081V|DYSF_uc010feh.3_Missense_Mutation_p.A1050V|DYSF_uc002sig.4_Missense_Mutation_p.A1050V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.A1095V|DYSF_uc010fee.3_Missense_Mutation_p.A1064V|DYSF_uc010fef.3_Missense_Mutation_p.A1081V|DYSF_uc002sie.3_Missense_Mutation_p.A1064V|DYSF_uc010feo.3_Missense_Mutation_p.A1096V|DYSF_uc010fej.3_Missense_Mutation_p.A1051V|DYSF_uc010fel.3_Missense_Mutation_p.A1051V|DYSF_uc010fem.3_Missense_Mutation_p.A1065V|DYSF_uc002sif.3_Missense_Mutation_p.A1065V|DYSF_uc010fek.3_Missense_Mutation_p.A1082V|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1064	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGCGGAGGCGGAGGGCGAG	0.662												
SLC9A4	389015	broad.mit.edu	37	2	103095611	103095611	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:103095611C>T	uc002tbz.4	+	1	1027	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	190					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.D190D(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCTGGGCGACGTCAACCTGC	0.632												
DPP10	57628	broad.mit.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:116447456G>A	uc002tle.3	+	6	568	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	179					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438												
ABCB11	8647	broad.mit.edu	37	2	169850255	169850255	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:169850255G>C	uc002ueo.1	-	7	875	c.749C>G	c.(748-750)cCt>cGt	p.P250R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	250	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCCAATGAGAGGGCTGACAGA	0.453												
ZNF337	26152	broad.mit.edu	37	20	25666266	25666266	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:25666266G>A	uc002wva.3	-	2	709	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	ZNF337_uc010ztg.2_Intron|ZNF337_uc002wvc.3_Missense_Mutation_p.R63W	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCTAGCCGCCTGATGAGT	0.577												
STAU1	6780	broad.mit.edu	37	20	47741010	47741010	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:47741010C>T	uc002xud.3	-	6	1135	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	STAU1_uc002xua.3_Missense_Mutation_p.A161T|STAU1_uc002xub.3_Missense_Mutation_p.A167T|STAU1_uc002xuc.3_Missense_Mutation_p.A161T|STAU1_uc002xue.3_Missense_Mutation_p.A161T|STAU1_uc002xuf.3_Missense_Mutation_p.A167T|STAU1_uc002xug.3_Missense_Mutation_p.A242T	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	242	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	p.A242T(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCTATGGCGGCATTTTTC	0.468												
FBLN2	2199	broad.mit.edu	37	3	13670777	13670777	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:13670777G>A	uc011avc.2	+	12	3209	c.2827G>A	c.(2827-2829)Ggc>Agc	p.G943S	FBLN2_uc011auz.2_Missense_Mutation_p.G922S|FBLN2_uc011avb.2_Missense_Mutation_p.G896S|FBLN2_uc011ava.2_Missense_Mutation_p.G943S	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	938	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGATGCCTTTGGCCGGGGCTG	0.662												
TRAT1	50852	broad.mit.edu	37	3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	rs148894492		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:108549621C>T	uc003dxi.1	+	1	256	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_uc010hpx.1_Intron	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	38					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R38Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418												
IFT80	57560	broad.mit.edu	37	3	160083930	160083930	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:160083930C>T	uc021xgr.1	-	4	496	c.450G>A	c.(448-450)gtG>gtA	p.V150V	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.V13V|IFT80_uc021xgq.1_Silent_p.V148V|IFT80_uc003fde.2_Silent_p.V13V|IFT80_uc003fdd.2_Intron	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	150						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTACTGAATACACTGGTGTTC	0.353												
RBM47	54502	broad.mit.edu	37	4	40440481	40440481	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:40440481C>T	uc003gvc.2	-	3	1140	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	144	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGCAGCACACGCCGAGCAGG	0.637												
LRRC66	339977	broad.mit.edu	37	4	52869513	52869513	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:52869513T>C	uc003gzi.3	-	1	549	c.542A>G	c.(541-543)aAt>aGt	p.N181S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	181						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAATATCCCATTGAATGACAG	0.383												
SULT1B1	27284	broad.mit.edu	37	4	70596318	70596318	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:70596318G>A	uc003hen.3	-	6	977	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATGAGGTGTGATGGATGATC	0.378												
C4orf40	401137	broad.mit.edu	37	4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:71021774C>T	uc003hfa.4	+	2	128	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_uc003hfb.4_Missense_Mutation_p.R19W	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	19						extracellular region		p.R19W(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259												
AFM	173	broad.mit.edu	37	4	74365901	74365901	+	Missense_Mutation	SNP	A	A	C	rs149561663		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:74365901A>C	uc003hhb.3	+	11	1634	c.1603A>C	c.(1603-1605)Atg>Ctg	p.M535L		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	535	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCACGCAGACATGTGTCAATC	0.393												
AGXT2L1	64850	broad.mit.edu	37	4	109667553	109667553	+	Splice_Site	SNP	A	A	G			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:109667553A>G	uc003hzc.3	-	11	1484	c.1303_splice	c.e11+1	p.V435_splice	AGXT2L1_uc010imc.3_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.2_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.2_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.2_Splice_Site_p.V377_splice	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	435					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CCATGGACCCACCTGTTAGAA	0.413												
SEC24D	9871	broad.mit.edu	37	4	119745869	119745870	+	Frame_Shift_Ins	INS	-	-	G	rs141446866		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:119745869_119745870insG	uc003ici.4	-	2	425_426	c.153_154insC	c.(151-156)accgccfs	p.T51fs	SEC24D_uc003icj.4_Frame_Shift_Ins_p.T51fs|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	51	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCCA	0.540												
SYNPO2	171024	broad.mit.edu	37	4	119948017	119948017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:119948017C>T	uc010inb.3	+	2	689	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	SYNPO2_uc010ina.3_Nonsense_Mutation_p.Q165*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.Q165*|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Nonsense_Mutation_p.Q93*	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	165						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCGAGCTACCAAAGGGCTCC	0.557												
CAMK4	814	broad.mit.edu	37	5	110818505	110818505	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:110818505A>C	uc003kpf.3	+	9	1086	c.851A>C	c.(850-852)gAt>gCt	p.D284A	CAMK4_uc010jbv.3_Missense_Mutation_p.D87A|CAMK4_uc003kpg.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	284	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTGTTTTGGATCCAAAGAAA	0.423												
PCDHB7	56129	broad.mit.edu	37	5	140553289	140553289	+	Silent	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:140553289G>T	uc003lit.3	+	0	1047	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	291	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAAACGTTTCAAATCA	0.418												
KIAA1244	57221	broad.mit.edu	37	6	138559683	138559683	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:138559683G>A	uc003qhu.3	+	5	629	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	153					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTCACCAGCGTAGCATAAAC	0.453												
RNASET2	8635	broad.mit.edu	37	6	167360227	167360227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:167360227C>T	uc003qve.3	-	4	611	c.204_splice	c.e4-1	p.W68_splice	RNASET2_uc003qvf.3_Splice_Site|RNASET2_uc003qvi.1_Intron	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	68					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTATCGGGCCTGGAAATTC	0.348												
ABCA13	154664	broad.mit.edu	37	7	48443394	48443394	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:48443394C>T	uc003toq.2	+	38	12012	c.11988C>T	c.(11986-11988)acC>acT	p.T3996T	ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3996	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.R3996M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCGAGGACCGTGGTTCTGG	0.572												
EIF4H	7458	broad.mit.edu	37	7	73601967	73601967	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:73601967G>T	uc003uad.1	+	1	94	c.86G>T	c.(85-87)gGt>gTt	p.G29V	EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	29					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GGTGGCCATGGTTCCCGTAGC	0.527												
PILRA	29992	broad.mit.edu	37	7	99996939	99996939	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:99996939C>T	uc003uuo.1	+	4	945	c.733C>T	c.(733-735)Cca>Tca	p.P245S	PILRA_uc011kjo.2_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	245					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGAGGAGCCATATGAGAA	0.502												
GRM8	2918	broad.mit.edu	37	7	126249517	126249517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:126249517C>T	uc003vlr.2	-	6	1704	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	465					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G465E(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAGCATCTCCGTTTTCATTA	0.378										HNSCC(24;0.065)		
IDO1	3620	broad.mit.edu	37	8	39782809	39782809	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:39782809T>A	uc003xnm.3	+	8	889	c.775T>A	c.(775-777)Ttt>Att	p.F259I		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	259					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CCCAAAGGAGTTTGCAGGGGG	0.507												
RAD21	5885	broad.mit.edu	37	8	117875483	117875483	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:117875483G>A	uc003yod.3	-	2	448	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	54					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTGATGTCCGTAATGCCATT	0.348												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112686091	112686091	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr9:112686091C>T	uc004bei.2	+	3	526	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	PALM2-AKAP2_uc004beg.3_Silent_p.L114L|PALM2-AKAP2_uc004beh.4_Silent_p.L112L|PALM2-AKAP2_uc004bej.4_Silent_p.L112L|PALM2-AKAP2_uc004bek.4_Silent_p.L112L|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTAGAGAAACTGAAGGAAAC	0.403												
SERPINA7	6906	broad.mit.edu	37	X	105280734	105280734	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chrX:105280734C>T	uc010npd.3	-	0	551	c.316G>A	c.(316-318)Gta>Ata	p.V106I	SERPINA7_uc004eme.2_Missense_Mutation_p.V106I|SERPINA7_uc010npe.2_Missense_Mutation_p.V106I	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	106					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V106L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATCTCTACCATTGGAGTG	0.478