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	qox	pox_cutoff	pox	oxoGCut	isArtifactMode	t_ref_count	t_alt_count
INSRR	3645	broad.mit.edu	37	1	156821796	156821796	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:156821796G>A	uc010pht.2	-	2	1124	c.825C>T	c.(823-825)gtC>gtT	p.V275V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.V275V	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	275					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)					GCTCAGCTGTGACACAGCGCC	0.657													0	1	0	0	0	35	5
FLII	2314	broad.mit.edu	37	17	18150552	18150552	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:18150552C>G	uc002gsr.1	-	20	2658	c.2607G>C	c.(2605-2607)aaG>aaC	p.K869N	FLII_uc002gsq.1_Missense_Mutation_p.K740N|FLII_uc010vxn.1_Missense_Mutation_p.K838N|FLII_uc010vxo.1_Missense_Mutation_p.K814N|FLII_uc002gss.1_Missense_Mutation_p.K868N	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	869					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCTGGTCTTTCTTCTCGGCGT	0.667													0	1	0	0	0	55	7
PARP14	54625	broad.mit.edu	37	3	122437591	122437591	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:122437591C>G	uc003efq.4	+	13	4652	c.4593C>G	c.(4591-4593)atC>atG	p.I1531M	PARP14_uc021xdc.1_Missense_Mutation_p.I1395M|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.I1248M|PARP14_uc003efs.1_Missense_Mutation_p.I1248M	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1531	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGATTGTATCAGTGAGTTTA	0.388													0	1	0	0	0	159	6
CHST11	50515	broad.mit.edu	37	12	104851270	104851270	+	Silent	SNP	C	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:104851270C>A	uc001tkz.3	+	0	579	c.81C>A	c.(79-81)atC>atA	p.I27I	CHST11_uc001tky.3_Silent_p.I27I	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	27					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GATCCTTTATCCTGGTCATCT	0.532													1.19E-03	1	1.17E-03	0	1	91	6
KLF6	1316	broad.mit.edu	37	10	3824138	3824138	+	Missense_Mutation	SNP	T	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:3824138T>C	uc001iha.3	-	1	638	c.371A>G	c.(370-372)aAg>aGg	p.K124R	KLF6_uc010qaj.2_Missense_Mutation_p.K124R|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.K124R|KLF6_uc001ihb.2_Missense_Mutation_p.K124R	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	124					B cell differentiation	nucleus	zinc ion binding	p.K124R(2)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGAGGTAAACTTGGCCGTGGG	0.532											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	152	18
CPEB4	80315	broad.mit.edu	37	5	173337561	173337561	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:173337561G>A	uc003mcs.4	+	1	2567	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	CPEB4_uc010jju.2_Silent_p.E387E|CPEB4_uc010jjv.3_Silent_p.E387E|CPEB4_uc011dfg.2_Silent_p.E387E|CPEB4_uc003mcu.4_Silent_p.E5E	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	387							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTCACTGGAGAGTTCACTCA	0.343													0	1	0	0	0	115	9
CIRH1A	84916	broad.mit.edu	37	16	69201033	69201033	+	Nonsense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:69201033C>G	uc002ews.4	+	15	1985	c.1889C>G	c.(1888-1890)tCa>tGa	p.S630*	CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.S547*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.S432*	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	630						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACGAATGAATCAGATGTCATC	0.363													0	1	0	0	0	84	4
ITPR1	3708	broad.mit.edu	37	3	4715019	4715019	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:4715019G>A	uc003bqc.3	+	19	2709	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ITPR1_uc021wsi.1_Missense_Mutation_p.V802M|ITPR1_uc021wsj.1_Missense_Mutation_p.V787M|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	802					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGTCACCCCCGTGAAATATGC	0.562													0	1	0	0	0	124	12
TCEB3	6924	broad.mit.edu	37	1	24078449	24078449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:24078449C>T	uc001bho.3	+	3	1492	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	478					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGACTCAGTTCAGAAATTACC	0.433											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	72	4
PTPN22	26191	broad.mit.edu	37	1	114380398	114380398	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:114380398G>A	uc001eds.3	-	12	1754	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	PTPN22_uc021orx.1_Missense_Mutation_p.P542S|PTPN22_uc009wgq.3_Missense_Mutation_p.P487S|PTPN22_uc021ory.1_Missense_Mutation_p.P518S|PTPN22_uc010owo.2_Missense_Mutation_p.P298S|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P542S|PTPN22_uc009wgs.2_Missense_Mutation_p.P415S|PTPN22_uc001edu.2_Missense_Mutation_p.P542S	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	542					T cell differentiation|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	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			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)		GTACCACTTGGAGGCCATGAT	0.393													0	1	0	0	0	66	5
ACTA1	58	broad.mit.edu	37	1	229567331	229567331	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:229567331G>C	uc001htm.3	-	6	1154	c.1049C>G	c.(1048-1050)tCg>tGg	p.S350W		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	350			S -> L (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGTGGACAGCGAGGCCAGGAT	0.627													0	1	0	0	0	194	11
TMC5	79838	broad.mit.edu	37	16	19451644	19451644	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19451644C>G	uc002dgc.4	+	2	1033	c.284C>G	c.(283-285)tCt>tGt	p.S95C	TMC5_uc010vaq.2_Missense_Mutation_p.S95C|TMC5_uc002dgb.4_Missense_Mutation_p.S95C|TMC5_uc010var.2_Missense_Mutation_p.S95C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	95						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTGCAGCCTCTAGAACAAGC	0.483													0	1	0	0	0	149	16
CBX1	10951	broad.mit.edu	37	17	46148811	46148811	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:46148811C>G	uc002ind.4	-	4	1025	c.544G>C	c.(544-546)Gat>Cat	p.D182H	CBX1_uc002ine.4_Missense_Mutation_p.D182H	NM_006807	NP_006798	P83916	CBX1_HUMAN	Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.	182						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TTCTTGTCATCTTTTTTGTCA	0.493													0	1	0	0	0	43	3
MUC7	4589	broad.mit.edu	37	4	71346814	71346814	+	Nonsense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:71346814C>G	uc011cat.2	+	3	641	c.353C>G	c.(352-354)tCa>tGa	p.S118*	MUC7_uc011cau.2_Nonsense_Mutation_p.S118*|MUC7_uc003hfj.3_Nonsense_Mutation_p.S118*	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	118	Thr-rich.					extracellular region	protein binding	p.P117Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTTTCCCATCAGCTTCCACC	0.428													0	1	0	0	0	69	5
EBPL	84650	broad.mit.edu	37	13	50237326	50237326	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:50237326C>T	uc001vdg.3	-	2	310	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.E83K	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	83					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGCCATATTCTTTCCCTAAA	0.398													0	1	0	0	0	81	6
KCNIP2	30819	broad.mit.edu	37	10	103587154	103587154	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:103587154C>T	uc001kuc.3	-	9	1166	c.814G>A	c.(814-816)Gag>Aag	p.E272K	LOC100289509_uc021pxh.1_Intron|KCNIP2_uc010qqg.2_Missense_Mutation_p.E201K|KCNIP2_uc001ktx.3_Non-coding_Transcript|KCNIP2_uc001kty.3_Missense_Mutation_p.E155K|KCNIP2_uc001ktz.3_Missense_Mutation_p.E212K|KCNIP2_uc009xwv.3_Missense_Mutation_p.E203K|KCNIP2_uc001kub.3_Missense_Mutation_p.E257K|KCNIP2_uc001kue.3_Missense_Mutation_p.E239K|KCNIP2_uc001kud.3_Missense_Mutation_p.E214K|KCNIP2_uc001kuf.3_Missense_Mutation_p.E207K|KCNIP2_uc001kua.3_Missense_Mutation_p.E188K|KCNIP2_uc009xwu.3_Missense_Mutation_p.E206K	NM_014591	NP_055406	Q9NS61	KCIP2_HUMAN	Homo sapiens Kv channel interacting protein 2 (KCNIP2), transcript variant 1, mRNA.	257					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|ER retention sequence binding|calcium ion binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGATGTTCTCATCCTGTGGC	0.527													0	1	0	0	0	176	10
CSDA	8531	broad.mit.edu	37	12	10862690	10862690	+	Silent	SNP	T	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:10862690T>C	uc001qyt.3	-	5	840	c.597A>G	c.(595-597)gaA>gaG	p.E199E	CSDA_uc001qyu.3_Intron	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	199					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					TGCCGCTCCCTTCCTCCTCCT	0.537													0	1	0	0	0	20	2
EIF3D	8664	broad.mit.edu	37	22	36920659	36920659	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr22:36920659C>T	uc003apr.3	-	3	455	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	EIF3D_uc011amt.2_Intron|EIF3D_uc011ams.2_5'UTR	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	97						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAATCTCATTCGATTCCGCTG	0.512													0	1	0	0	0	114	14
PPP2R5D	5528	broad.mit.edu	37	6	42976211	42976211	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:42976211C>T	uc003oth.3	+	8	1110	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Nonsense_Mutation_p.Q236*|PPP2R5D_uc011dva.2_Nonsense_Mutation_p.Q191*|PPP2R5D_uc003oti.3_Nonsense_Mutation_p.Q191*|PPP2R5D_uc021yzq.1_Nonsense_Mutation_p.Q310*|PPP2R5D_uc003otj.3_Nonsense_Mutation_p.Q191*	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	342					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTACCACCCTCAGGTGAGCTG	0.532													0	1	0	0	0	54	5
KIAA1468	57614	broad.mit.edu	37	18	59947626	59947626	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr18:59947626G>A	uc002lil.3	+	22	3216	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1001							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGCGTTAGTTGACAAGCGGGT	0.448													0	1	0	0	0	127	9
ZNF177	7730	broad.mit.edu	37	19	9489680	9489680	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:9489680G>C	uc021uon.1	+	2	237	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	ZNF177_uc002mli.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlj.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlk.3_Missense_Mutation_p.E26Q	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	26	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTTCCCAGGAGGAGTGGGC	0.458													0	1	0	0	0	53	5
RAG1	5896	broad.mit.edu	37	11	36597776	36597776	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:36597776C>T	uc021qgb.1	+	0	2922	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F	RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Silent_p.F974F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	974					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R973S(1)|p.R973C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAGGCGCTTCCGGAAAATGA	0.468									Familial Hemophagocytic Lymphohistiocytosis				0	1	0	0	0	86	8
SYT17	51760	broad.mit.edu	37	16	19195026	19195026	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19195026G>A	uc002dfw.3	+	4	839	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SYT17_uc002dfx.3_Missense_Mutation_p.D109N|SYT17_uc002dfy.3_Missense_Mutation_p.D166N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	170						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAACAGCGACGATGTGGACTC	0.567													0	1	0	0	0	75	9
ALAS1	211	broad.mit.edu	37	3	52238848	52238848	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:52238848C>T	uc011bec.2	+	5	1088	c.768C>T	c.(766-768)ctC>ctT	p.L256L	ALAS1_uc003dcy.2_Silent_p.L239L|ALAS1_uc003dcz.2_Silent_p.L239L	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	239					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGACTCCCTCATCACCAAAA	0.473													0	1	0	0	0	91	7
ANGPTL1	9068	broad.mit.edu	37	1	178820385	178820385	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:178820385C>T	uc001gma.3	-	5	1831	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G452E	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	452	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTACCATACTCCATTTAGGTT	0.438													0	1	0	0	0	76	6
ITGA2B	3674	broad.mit.edu	37	17	42458006	42458006	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:42458006G>A	uc002igt.1	-	13	1433	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	467					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.I467I(2)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602													0	1	0	0	0	77	12
KCNQ5	56479	broad.mit.edu	37	6	73834209	73834209	+	Splice_Site	SNP	G	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:73834209G>T	uc011dyh.2	+	9	1568	c.1221_splice	c.e9-1	p.K407_splice	KCNQ5_uc003pgj.4_Splice_Site_p.K407_splice|KCNQ5_uc011dyi.2_Intron|KCNQ5_uc010kat.3_Intron|KCNQ5_uc003pgk.3_Splice_Site_p.K407_splice|KCNQ5_uc011dyj.2_Splice_Site_p.K407_splice|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	407					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCACCTGAAGGAAAGAACAAG	0.383													2.58E-04	1	2.48E-04	0	1	50	4
TRPM2	7226	broad.mit.edu	37	21	45799002	45799002	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr21:45799002C>G	uc010gpt.1	+	7	1237	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	TRPM2_uc002zet.1_Missense_Mutation_p.I379M|TRPM2_uc002zeu.1_Missense_Mutation_p.I379M|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.I379M|TRPM2_uc002zex.1_Missense_Mutation_p.I165M	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	379						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCCCTGATCCAGCAGAAAC	0.597													0	1	0	0	0	79	4
SLC12A4	6560	broad.mit.edu	37	16	67979417	67979417	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67979417C>G	uc010vkj.1	-	20	2933	c.2893G>C	c.(2893-2895)Gag>Cag	p.E965Q	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E957Q|SLC12A4_uc010vkh.1_Missense_Mutation_p.E932Q|SLC12A4_uc002euz.2_Missense_Mutation_p.E963Q|SLC12A4_uc010vki.1_Missense_Mutation_p.E957Q|SLC12A4_uc002eva.2_Missense_Mutation_p.E963Q	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	963					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACAGGCTCTCCAGCCGCAGG	0.597													0	1	0	0	0	76	5
CCNJ	54619	broad.mit.edu	37	10	97817702	97817702	+	Nonsense_Mutation	SNP	C	T	T	rs149060787		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:97817702C>T	uc010qoq.2	+	5	1215	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Nonsense_Mutation_p.Q275*|CCNJ_uc001kln.3_Nonsense_Mutation_p.Q274*	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	275						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGTTCACTTTCAGCAACCTCA	0.502													0	1	0	0	0	159	14
TPT1	7178	broad.mit.edu	37	13	45914212	45914212	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:45914212G>A	uc001uzy.1	-	2	303	c.210C>T	c.(208-210)gtC>gtT	p.V70V	TPT1_uc001uzz.1_Silent_p.V36V|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank	NM_003295	NP_003286	P13693	TCTP_HUMAN	Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA.	70					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TGACAATATCGACACCAGTGA	0.458													0	1	0	0	0	76	7
COPZ1	22818	broad.mit.edu	37	12	54741787	54741787	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:54741787G>A	uc001sfs.1	+	6	436	c.399G>A	c.(397-399)gtG>gtA	p.V133V	COPZ1_uc001sft.2_Silent_p.V82V|COPZ1_uc009znm.1_Silent_p.V141V|COPZ1_uc010sot.1_Silent_p.V110V	NM_016057	NP_057141	P61923	COPZ1_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA.	133					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						TTTGCAGGGTGATCCTAGAGA	0.512													0	1	0	0	0	69	8
CNIH2	254263	broad.mit.edu	37	11	66050518	66050518	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:66050518G>C	uc001ohi.1	+	3	443	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	CNIH2_uc009yrb.1_Non-coding_Transcript	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA.	71					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGTGGTCCCAGAATACTCCAT	0.597											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	157	10
NASP	4678	broad.mit.edu	37	1	46080813	46080813	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:46080813C>T	uc001coi.2	+	9	1954	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	NASP_uc021omz.1_Nonsense_Mutation_p.Q601*|NASP_uc001coj.2_Nonsense_Mutation_p.Q260*|NASP_uc010olr.2_Nonsense_Mutation_p.Q535*|NASP_uc001col.2_Nonsense_Mutation_p.Q107*	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	599	Glu-rich (acidic).				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	p.Q601*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTACAACTCTCAGTATGATGA	0.512													0	1	0	0	0	85	4
PRDM8	56978	broad.mit.edu	37	4	81122505	81122505	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:81122505C>T	uc010ijo.3	+	6	1120	c.281C>T	c.(280-282)tCg>tTg	p.S94L	PRDM8_uc003hmb.4_Missense_Mutation_p.S94L|PRDM8_uc003hmc.4_Missense_Mutation_p.S94L	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	94	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TTGGTCCAATCGGCCAGAGAT	0.483													0	1	0	0	0	33	8
BNIP1	662	broad.mit.edu	37	5	172573902	172573902	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:172573902C>G	uc003mci.4	+	1	222	c.118C>G	c.(118-120)Ctt>Gtt	p.L40V	BNIP1_uc003mcj.4_Missense_Mutation_p.L40V|BNIP1_uc003mck.4_Missense_Mutation_p.L40V|BNIP1_uc003mcl.4_Missense_Mutation_p.L40V|BNIP1_uc021yhw.1_5'UTR	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	40					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTAAGTGCTCTTACTGAACT	0.408													0	1	0	0	0	46	6
UBR1	197131	broad.mit.edu	37	15	43348594	43348594	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr15:43348594C>G	uc001zqq.3	-	10	1295	c.1229G>C	c.(1228-1230)aGa>aCa	p.R410T	UBR1_uc010udk.1_Missense_Mutation_p.R410T	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	410					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAGATACTTCTGTCATGATC	0.284													0	1	0	0	0	88	5
PCDHB9	56127	broad.mit.edu	37	5	140567496	140567496	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:140567496C>T	uc003liw.1	+	0	604	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	202	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACTGGATCGGGAGGAGCA	0.483													0	1	0	0	0	168	22
TNF	7124	broad.mit.edu	37	6	31543617	31543617	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:31543617C>T	uc003nui.3	+	0	268	c.99C>T	c.(97-99)ctC>ctT	p.L33L	TNF_uc003nuj.3_5'Flank	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	33					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	GCTTGTTCCTCAGCCTCTTCT	0.647									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				0	1	0	0	0	103	6
PSG5	5673	broad.mit.edu	37	19	43680121	43680121	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:43680121G>C	uc002ovu.3	-	2	741	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.L204V	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	204	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACACTGGGTAGAATGAGGATC	0.507													0	1	0	0	0	131	13
PRKD2	25865	broad.mit.edu	37	19	47177807	47177807	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:47177807C>T	uc002pfh.3	-	18	2952	c.2610G>A	c.(2608-2610)ggG>ggA	p.G870G	PRKD2_uc010eks.3_Silent_p.G273G|PRKD2_uc010ekt.3_Silent_p.G137G|PRKD2_uc002pfg.3_Silent_p.G713G|PRKD2_uc002pfi.3_Silent_p.G870G|PRKD2_uc002pfj.3_Silent_p.G870G|PRKD2_uc010xye.2_Silent_p.G880G|PRKD2_uc002pfk.3_Silent_p.G713G|LOC100506068_uc021uwh.1_Intron	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	870			G -> E (in a gastric adenocarcinoma sample; somatic mutation).		T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.G870E(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTCCGCCAGCCCCTGCATGT	0.632													0	1	0	0	0	36	5
DEF8	54849	broad.mit.edu	37	16	90020690	90020691	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:90020690_90020691CC>TT	uc002fpn.2	+	2	346_347	c.213_214CC>TT	c.(211-216)ttccgg>ttTTgg	p.R72W	DEF8_uc021tmu.1_Missense_Mutation_p.R11W|DEF8_uc002fpl.3_Missense_Mutation_p.R11W|DEF8_uc002fpm.3_Missense_Mutation_p.R11W|DEF8_uc002fpo.2_Missense_Mutation_p.R11W|DEF8_uc002fpp.2_Missense_Mutation_p.R11W|DEF8_uc021tmv.1_Missense_Mutation_p.R11W|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.R11W	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	72					intracellular signal transduction		zinc ion binding	p.F71F(2)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGGCCCGTTTCCGGCAGGCCCA	0.644													0	1	0	0	0	80	4
SHANK1	50944	broad.mit.edu	37	19	51172499	51172499	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:51172499C>T	uc002psx.1	-	21	2737	c.2718G>A	c.(2716-2718)atG>atA	p.M906I	SHANK1_uc002psw.1_Missense_Mutation_p.M290I	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	906					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCTGAATTTCATGGCTGGGG	0.647											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	41	3
TTC40	54777	broad.mit.edu	37	10	134647628	134647628	+	Splice_Site	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:134647628C>G	uc021qbc.1	-	49	6968	c.6867_splice	c.e49-1	p.R2289_splice		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	450										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGTCTGCACTCTGAAAGTCAG	0.502													0	1	0	0	0	68	9
GIPC3	126326	broad.mit.edu	37	19	3586871	3586871	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3586871C>T	uc002lyd.4	+	2	498	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	157	PDZ.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGACAGCATCGAAGCCATCA	0.627											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	42	4
CD38	952	broad.mit.edu	37	4	15780234	15780234	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:15780234G>A	uc003gol.1	+	0	304	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	66					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTCCTGGCGCGATGCGTCAAG	0.672													0	1	0	0	0	62	11
NNT	23530	broad.mit.edu	37	5	43616136	43616136	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:43616136G>A	uc003joe.3	+	3	823	c.568G>A	c.(568-570)Gat>Aat	p.D190N	NNT_uc003jof.3_Missense_Mutation_p.D190N	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	190					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TCAGGGATATGATGCGCTAAG	0.443													0	1	0	0	0	83	9
SLC12A5	57468	broad.mit.edu	37	20	44670044	44670044	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr20:44670044G>C	uc010zxl.1	+	7	1076	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.E311Q	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	334					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAGGAAATGAGACGGTGAC	0.542													0	1	0	0	0	74	6
CHD3	1107	broad.mit.edu	37	17	7798683	7798683	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7798683G>C	uc002gjd.2	+	9	1709	c.1707G>C	c.(1705-1707)caG>caC	p.Q569H	CHD3_uc002gje.2_Missense_Mutation_p.Q510H|CHD3_uc002gjf.2_Missense_Mutation_p.Q510H|CHD3_uc002gjg.1_Missense_Mutation_p.Q338H	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	510	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTCGAGTGCAGAAGATCCTAC	0.557													0	1	0	0	0	138	8
ALOX12B	242	broad.mit.edu	37	17	7979610	7979610	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7979610G>A	uc002gjy.1	-	10	1676	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	472	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTGAGCTCCGACAGAGCCCG	0.607										Multiple Myeloma(8;0.094)			0	1	0	0	0	26	5
C17orf28	283987	broad.mit.edu	37	17	72959073	72959073	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:72959073C>T	uc002jmj.4	-	3	640	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.R163Q	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	164						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTGCTCCTCCGGTGGCTCTG	0.662													0	1	0	0	0	72	8
ADAMTS20	80070	broad.mit.edu	37	12	43858536	43858536	+	Splice_Site	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:43858536C>T	uc010skx.2	-	10	1368	c.1368_splice	c.e10-1	p.D456_splice		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	456	Peptidase M12B.			D -> E (in Ref. 2; CAD56159/CAD56160).		proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAACCAGTACTGTAACAGTG	0.343													0	1	0	0	0	20	4
ARID2	196528	broad.mit.edu	37	12	46244997	46244997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:46244997C>T	uc001ros.1	+	14	3091	c.3091C>T	c.(3091-3093)Cag>Tag	p.Q1031*	ARID2_uc001ror.3_Nonsense_Mutation_p.Q1031*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q487*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q658*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q365*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1031	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTACAAGTTCAGCAGCCCCA	0.502			"""N, S, F"""		hepatocellular carcinoma								0	1	0	0	0	78	9
HDGFRP2	84717	broad.mit.edu	37	19	4501226	4501226	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:4501226G>A	uc002mao.3	+	14	1921	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	HDGFRP2_uc002map.3_Missense_Mutation_p.E610K|HDGFRP2_uc002maq.1_Missense_Mutation_p.E75K|HDGFRP2_uc010dua.3_Intron	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	605					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGTGAATGGCGAGGCCACATC	0.637													0	1	0	0	0	80	9
FARP1	10160	broad.mit.edu	37	13	99063014	99063014	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:99063014C>T	uc001vnh.3	+	14	1868	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	FARP1_uc001vnj.3_Silent_p.F543F	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	543	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCGTACTTCATAGCTAAGG	0.408													0	1	0	0	0	28	3
FGD2	221472	broad.mit.edu	37	6	36995226	36995226	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:36995226G>C	uc010jwp.1	+	14	1798	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	FGD2_uc003ong.2_Missense_Mutation_p.D265H|FGD2_uc011dtv.1_Missense_Mutation_p.D171H|FGD2_uc003onj.1_Missense_Mutation_p.D120H	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	543					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.P542L(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCCACGCCTGACCAGAGCCT	0.617													0	1	0	0	0	177	18
PHF16	9767	broad.mit.edu	37	X	46898446	46898446	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:46898446G>A	uc004dgx.3	+	7	1002	c.951G>A	c.(949-951)ttG>ttA	p.L317L	PHF16_uc004dgy.3_Silent_p.L317L	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	317					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGCAAGTTGAAGACGGGGG	0.532													0	1	0	0	0	24	6
TIAM2	26230	broad.mit.edu	37	6	155450556	155450556	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:155450556C>T	uc003qqb.3	+	5	1472	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	TIAM2_uc003qqe.3_Missense_Mutation_p.H67Y	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	67					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGCCTTTCTCACTTTAAGAG	0.547													0	1	0	0	0	32	5
ODZ4	26011	broad.mit.edu	37	11	78437190	78437190	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:78437190C>T	uc001ozl.4	-	22	3947	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1162					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GCGTCAATTTCATAGCCCTGC	0.443													0	1	0	0	0	234	26
SIAH1	6477	broad.mit.edu	37	16	48395650	48395650	+	Silent	SNP	A	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:48395650A>G	uc021ths.1	-	0	690	c.690T>C	c.(688-690)caT>caC	p.H230H	MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efn.1_Silent_p.H261H|SIAH1_uc002efo.1_Silent_p.H230H|LOC100507577_uc021tht.1_5'Flank	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 1, mRNA.	230	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATCGTCGCCTATGACCATTTA	0.443													0	1	0	0	0	34	3
NPRL2	10641	broad.mit.edu	37	3	50386439	50386439	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:50386439C>T	uc003daj.1	-	4	854	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	151					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTTGGACTCATCTGCAGGG	0.557													0	1	0	0	0	101	9
PACSIN3	29763	broad.mit.edu	37	11	47200728	47200728	+	Missense_Mutation	SNP	C	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:47200728C>A	uc001ndw.3	-	7	1225	c.882G>T	c.(880-882)atG>atT	p.M294I	ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Missense_Mutation_p.M294I|PACSIN3_uc001ndx.3_Missense_Mutation_p.M294I	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	294					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GTGGCCAGTTCATGGCCATGC	0.627													2.82E-12	1	2.68E-12	0	1	265	26
GRIN2B	2904	broad.mit.edu	37	12	13906627	13906627	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:13906627C>T	uc001rbt.2	-	2	813	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	212					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTAGAATCTCCATCGTCCAGG	0.473													0	1	0	0	0	78	6
PPP1R13L	10848	broad.mit.edu	37	19	45889407	45889407	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:45889407G>A	uc002pbn.3	-	8	1924	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	PPP1R13L_uc002pbm.3_Missense_Mutation_p.S195F|PPP1R13L_uc002pbo.3_Missense_Mutation_p.S616F	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	616					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTGCGCGGGGAGCCCGCCTT	0.662													0	1	0	0	0	10	4
MYH3	4621	broad.mit.edu	37	17	10533478	10533478	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:10533478C>T	uc002gmq.2	-	37	5581	c.5493G>A	c.(5491-5493)caG>caA	p.Q1831Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1831					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTCTTCTTCTGCTCTCCCT	0.552													0	1	0	0	0	226	19
UBE4B	10277	broad.mit.edu	37	1	10209302	10209302	+	Silent	SNP	T	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:10209302T>C	uc021ogc.1	+	20	3493	c.2805T>C	c.(2803-2805)taT>taC	p.Y935Y	UBE4B_uc001aqs.4_Silent_p.Y884Y|UBE4B_uc001aqr.4_Silent_p.Y755Y|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.Y339Y	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	884					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGAGTTTTATGTAGAAGATG	0.274													0	1	0	0	0	53	5
EDEM1	9695	broad.mit.edu	37	3	5244672	5244672	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:5244672C>T	uc003bqi.3	+	4	1012	c.880C>T	c.(880-882)Cct>Tct	p.P294S	EDEM1_uc011asz.1_Missense_Mutation_p.P72S|EDEM1_uc021wsl.1_Missense_Mutation_p.P99S	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	294					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GACAGGAGTTCCTCCTGACAC	0.512													0	1	0	0	0	76	7
AADACL2	344752	broad.mit.edu	37	3	151475099	151475099	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:151475099C>T	uc003ezc.3	+	4	1043	c.923C>T	c.(922-924)tCa>tTa	p.S308L	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.S95L	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	308						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAGTTATTCATTGCCAGGA	0.363													0	1	0	0	0	105	8
TSR1	55720	broad.mit.edu	37	17	2233812	2233812	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:2233812C>T	uc002fuj.3	-	9	2724	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	589					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AATTTACCTTCTGTTCATGAG	0.433													0	1	0	0	0	75	4
TMEM2	23670	broad.mit.edu	37	9	74300217	74300217	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:74300217C>G	uc011lsa.1	-	23	4588	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q	TMEM2_uc011lrz.1_Missense_Mutation_p.E343Q|TMEM2_uc010mos.2_Missense_Mutation_p.E1287Q|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.E184Q	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1350						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATGAATTGTTCAAGCACCCCA	0.458													0	1	0	0	0	84	7
LINGO2	158038	broad.mit.edu	37	9	27949733	27949733	+	Missense_Mutation	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:27949733C>T	uc003zqv.1	-	6	1587	c.937G>A	c.(937-939)Gag>Aag	p.E313K	LINGO2_uc010mjf.1_Missense_Mutation_p.E313K|LINGO2_uc003zqu.1_Missense_Mutation_p.E313K|LINGO2_uc022bfc.1_Missense_Mutation_p.E313K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	313						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAGTGAGGCTCAATGGTGCGA	0.542													0	1	0	0	0	69	5
ERCC3	2071	broad.mit.edu	37	2	128036808	128036808	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:128036808C>G	uc002toh.1	-	9	1766	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	ERCC3_uc002toe.1_Missense_Mutation_p.K312N|ERCC3_uc002tof.1_Missense_Mutation_p.K493N|ERCC3_uc002tog.1_Missense_Mutation_p.K493N	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	557	Helicase C-terminal.				DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGACAATAATCTTGTCATTCC	0.398			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				0	1	0	0	0	29	5
DDX25	29118	broad.mit.edu	37	11	125780286	125780286	+	Silent	SNP	T	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780286T>C	uc001qcz.4	+	6	676	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L	DDX25_uc010sbk.2_Silent_p.L179L	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	179	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TACTTATGAATTGGCTCTGCA	0.448													0	1	0	0	0	103	10
BCL2L14	79370	broad.mit.edu	37	12	12240312	12240312	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:12240312C>G	uc001rac.3	+	2	800	c.599C>G	c.(598-600)tCt>tGt	p.S200C	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.S200C|BCL2L14_uc001rae.3_Missense_Mutation_p.S200C	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	200					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCTTCAAGTTCTAAGAAAGGT	0.532													0	1	0	0	0	57	5
NLRP14	338323	broad.mit.edu	37	11	7064628	7064628	+	Silent	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:7064628C>G	uc001mfb.1	+	3	1694	c.1371C>G	c.(1369-1371)gtC>gtG	p.V457V		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	457	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATCTGATGTCTCTAGTTTTA	0.408													0	1	0	0	0	84	4
FBXO11	80204	broad.mit.edu	37	2	48040983	48040983	+	Missense_Mutation	SNP	C	G	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:48040983C>G	uc002rwe.3	-	16	2103	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	FBXO11_uc010fbl.3_Missense_Mutation_p.R593T|FBXO11_uc010fbk.3_Missense_Mutation_p.R101T|FBXO11_uc021vhe.1_Missense_Mutation_p.R477T	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	677					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGTTGCGTCTAATTTTGGG	0.348			"""Mis, F, D"""		DLBCL								0	1	0	0	0	34	6
CTCF	10664	broad.mit.edu	37	16	67663340	67663340	+	Missense_Mutation	SNP	G	C	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67663340G>C	uc002etl.3	+	9	2185	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	CTCF_uc010cek.3_Missense_Mutation_p.D253H|CTCF_uc002etm.1_Missense_Mutation_p.D70H	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	581					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.P580T(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGGCCCAGATGGCGTAGA	0.408													0	1	0	0	0	57	7
DDX25	29118	broad.mit.edu	37	11	125780318	125780318	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780318G>A	uc001qcz.4	+	6	708	c.567G>A	c.(565-567)caG>caA	p.Q189Q	DDX25_uc010sbk.2_Silent_p.Q189Q	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	189	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGGTTGAGCAGATGGGAAAAT	0.478													0	1	0	0	0	118	10
MACF1	23499	broad.mit.edu	37	1	39926406	39926406	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:39926406G>A	uc021olw.1	+	56	16792	c.16792G>A	c.(16792-16794)Gat>Aat	p.D5598N	MACF1_uc021ols.1_Missense_Mutation_p.D5093N|MACF1_uc021olt.1_Missense_Mutation_p.D5096N|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7054					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGCGCATTGATAAGGACCA	0.428													0	1	0	0	0	150	10
GPR158	57512	broad.mit.edu	37	10	25464395	25464395	+	Missense_Mutation	SNP	C	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:25464395C>A	uc001isj.3	+	0	106	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	16						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTGCTTGCTCAGCTGGGATT	0.637													2.82E-04	1	2.74E-04	0	1	92	6
ARRDC2	27106	broad.mit.edu	37	19	18119799	18119799	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:18119799G>A	uc002nhv.3	+	2	504	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ARRDC2_uc002nhu.3_Missense_Mutation_p.E116K	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	121										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GACATCCTTCGAGGGCAAACA	0.617													0	1	0	0	0	134	6
FZR1	51343	broad.mit.edu	37	19	3523039	3523039	+	Missense_Mutation	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3523039G>A	uc010dtk.2	+	0	86	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FZR1_uc002lxt.2_Missense_Mutation_p.E18K|FZR1_uc002lxv.2_Missense_Mutation_p.E18K	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	18					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCCAGAATGAGAACACGAT	0.687													0	1	0	0	0	120	16
IRS1	3667	broad.mit.edu	37	2	227662792	227662792	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:227662792G>A	uc021vxn.1	-	0	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F	IRS1_uc002voh.4_Silent_p.F221F	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	221	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTCGATGAAGAAGAAGTTTT	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	114	9
FAM47C	442444	broad.mit.edu	37	X	37027623	37027623	+	Silent	SNP	G	A	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:37027623G>A	uc004ddl.2	+	0	1192	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	380										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAACCTCCCA	0.617													0	1	0	0	0	48	3
FLT4	2324	broad.mit.edu	37	5	180048729	180048729	+	Silent	SNP	C	T	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:180048729C>T	uc003mlz.4	-	12	1912	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	FLT4_uc003mma.4_Silent_p.K611K|FLT4_uc003mmb.1_Silent_p.K144K|FLT4_uc011dgy.2_Silent_p.K611K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	611	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCACGTTCTTGCAGTCGA	0.672													0	1	0	0	0	62	5
DNAJC25	548645	broad.mit.edu	37	9	114393996	114393996	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:114393996delG	uc004bfl.3	+	0	365	c.309delG	c.(307-309)ctgfs	p.L103fs	DNAJC25_uc004bfn.3_Frame_Shift_Del_p.L103fs|DNAJC25_uc004bfm.3_5'UTR	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.	103	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						CTTTCCTGCTGGTGGCAACCG	0.741																		4	2
