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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC94	55702	broad.mit.edu	37	19	4267629	4267629	+	Silent	SNP	G	G	A	rs144896215	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:4267629G>A	ENST00000262962.7	+	7	785	c.717G>A	c.(715-717)aaG>aaA	p.K239K		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	239										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCCCCAAAGCCCAAGAGGA	0.687000											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	37					0	0	0.024245	0	0
GLIS3	169792	broad.mit.edu	37	9	4117907	4117907	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:4117907A>G	ENST00000324333.10	-	3	1299	c.1106T>C	c.(1105-1107)gTc>gCc	p.V369A	GLIS3_ENST00000381971.3_Missense_Mutation_p.V524A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	369					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCGATGTGGACCTTCTCGAT	0.612000													11	73					0	0	0.010729	0	0
CEP120	153241	broad.mit.edu	37	5	122729184	122729184	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:122729184G>T	ENST00000306467.5	-	6	924	c.620C>A	c.(619-621)cCa>cAa	p.P207Q	CEP120_ENST00000306481.6_Missense_Mutation_p.P181Q|CEP120_ENST00000395431.2_Missense_Mutation_p.P207Q|CEP120_ENST00000328236.5_Missense_Mutation_p.P207Q			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	207						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CATGGTACATGGAATTAACTA	0.303000													20	31					3.6726e-16	4.39024e-16	0.021523	1	0
GREM2	64388	broad.mit.edu	37	1	240656691	240656691	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:240656691C>T	ENST00000318160.4	-	2	351	c.85G>A	c.(85-87)Gcc>Acc	p.A29T		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	29					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GAGGGGATGGCGCCCGCCGGC	0.622000													10	17					0	0	0.008291	0	0
LRFN5	145581	broad.mit.edu	37	14	42360816	42360816	+	Silent	SNP	A	A	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:42360816A>T	ENST00000298119.4	+	4	2938	c.1749A>T	c.(1747-1749)gtA>gtT	p.V583V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	583						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGTAGTGTAACGCTGCCCC	0.453000										HNSCC(30;0.082)			22	48					0	0	0.010504	0	0
SCARB2	950	broad.mit.edu	37	4	77091132	77091132	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:77091132G>T	ENST00000264896.2	-	8	1350	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	SCARB2_ENST00000452464.2_Missense_Mutation_p.P191H	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	334					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	p.P334H(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			CATAATGATGGGTGCACCTGC	0.413000													5	107					4.096e-09	4.58047e-09	0.021553	1	0
PRR12	57479	broad.mit.edu	37	19	50099696	50099696	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:50099696A>T	ENST00000418929.2	+	4	2116	c.2104A>T	c.(2104-2106)Agt>Tgt	p.S702C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	431	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCACCTGCAGAGTGTCATCCG	0.657000													14	20					0	0	0.016723	0	0
PCSK5	5125	broad.mit.edu	37	9	78911648	78911648	+	Silent	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:78911648C>A	ENST00000545128.1	+	27	3928	c.3390C>A	c.(3388-3390)tcC>tcA	p.S1130S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	837					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AATGTGAGTCCTGCCACCGAG	0.552000													14	36					4.3838e-07	4.74912e-07	0.016723	1	0
BPIFB4	149954	broad.mit.edu	37	20	31671216	31671216	+	Silent	SNP	C	C	A	rs145261889	byFrequency	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:31671216C>A	ENST00000375483.3	+	3	213	c.213C>A	c.(211-213)ccC>ccA	p.P71P		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	71						cytoplasm|extracellular region	lipid binding										TCCGAGGACCCCCCCCAGTAT	0.488000													39	113					7.05121e-23	8.62737e-23	0.039052	1	0
PCNX	22990	broad.mit.edu	37	14	71500712	71500712	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:71500712G>A	ENST00000304743.2	+	18	4179	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K	PCNX_ENST00000439984.3_Missense_Mutation_p.E1134K|PCNX_ENST00000238570.5_Missense_Mutation_p.E1245K	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1245						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCCTCTATCTGAAGTAAAAGA	0.308000													35	87					0	0	0.023175	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154524644	154524644	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:154524644G>A	ENST00000292211.4	-	8	970	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	297							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGCAAAGCGCTGTCCTGGT	0.493000													18	98					0	0	0.043863	0	0
UBR5	51366	broad.mit.edu	37	8	103354705	103354705	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:103354705T>C	ENST00000520539.1	-	9	1700	c.1094A>G	c.(1093-1095)gAt>gGt	p.D365G	UBR5_ENST00000521922.1_Missense_Mutation_p.D359G|UBR5_ENST00000220959.4_Missense_Mutation_p.D365G	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	365					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAATACCTTATCAGGCCACCA	0.408000													81	88					0	0	0.014410	0	0
GLRA3	8001	broad.mit.edu	37	4	175598318	175598318	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:175598318C>T	ENST00000274093.3	-	7	1340	c.838G>A	c.(838-840)Gat>Aat	p.D280N	GLRA3_ENST00000340217.5_Missense_Mutation_p.D280N	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	280					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GGTGCTGCATCCATGTTGATC	0.473000													20	38					0	0	0.010504	0	0
FNDC7	163479	broad.mit.edu	37	1	109270438	109270438	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:109270438T>C	ENST00000370017.3	+	7	1397	c.1120T>C	c.(1120-1122)Tgt>Cgt	p.C374R	FNDC7_ENST00000271311.2_Missense_Mutation_p.C375R	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	375						extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGCTCCCTGTTGTCCTAGTGA	0.547000													44	131					0	0	0.014410	0	0
TICRR	90381	broad.mit.edu	37	15	90168261	90168261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr15:90168261C>T	ENST00000268138.7	+	20	4825	c.4720C>T	c.(4720-4722)Cga>Tga	p.R1574*	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Nonsense_Mutation_p.R1573*					TOPBP1-interacting checkpoint and replication regulator																		TCCCAAACTTCGAATTAAGAA	0.537000													32	98					0	0	0.019004	0	0
DHX30	22907	broad.mit.edu	37	3	47889378	47889378	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:47889378A>G	ENST00000446256.2	+	15	2673	c.2101A>G	c.(2101-2103)Atc>Gtc	p.I701V	DHX30_ENST00000457607.1_Missense_Mutation_p.I768V|DHX30_ENST00000348968.4_Missense_Mutation_p.I712V|DHX30_ENST00000445061.1_Missense_Mutation_p.I740V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	740	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCATCACAATCAATGACAT	0.547000													23	39					0	0	0.014323	0	0
GBP3	2635	broad.mit.edu	37	1	89481070	89481070	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:89481070G>C	ENST00000370481.4	-	3	438	c.218C>G	c.(217-219)tCt>tGt	p.S73C	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	73						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTTGGTGTGAGATTTCACTGT	0.483000													33	98					0	0	0.017118	0	0
SFI1	9814	broad.mit.edu	37	22	32009447	32009447	+	Silent	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr22:32009447G>T	ENST00000432498.1	+	25	2973	c.2580G>T	c.(2578-2580)acG>acT	p.T860T	SFI1_ENST00000443011.1_Silent_p.T738T|SFI1_ENST00000400288.2_Silent_p.T891T|SFI1_ENST00000540643.1_Silent_p.T836T|SFI1_ENST00000414585.1_Silent_p.T738T|SFI1_ENST00000400289.1_Silent_p.T809T|SFI1_ENST00000443326.1_Silent_p.T809T	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	891					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGGGTGCCACGCGGCTCCTGC	0.682000													7	23					2.0095e-06	2.15451e-06	0.029380	1	0
AVPR1A	552	broad.mit.edu	37	12	63544069	63544069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr12:63544069G>A	ENST00000299178.2	-	1	653	c.548C>T	c.(547-549)aCg>aTg	p.T183M		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	183					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTACTGCGGCGTGCTCAGCAC	0.642000													29	50					0	0	0.037714	0	0
PLXNA4	91584	broad.mit.edu	37	7	132070014	132070014	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:132070014G>A	ENST00000423507.2	-	4	1546	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron	NM_001105543.1	NP_001099013.1	Q9HCM2	PLXA4_HUMAN	plexin A4	1019	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGGTCCCGTCTGTAGCTC	0.493000													3	36					0	0	0.004672	0	0
ERCC1	2067	broad.mit.edu	37	19	45916913	45916913	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:45916913G>T	ENST00000013807.5	-	8	1056	c.865C>A	c.(865-867)Cca>Aca	p.P289T	ERCC1_ENST00000340192.7_Intron|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_Intron|ERCC1_ENST00000300853.3_Intron|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Intron	NM_202001.2	NP_973730.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	0					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAACTCCTTGGGTTCTTTCCC	0.512000								Nucleotide excision repair (NER)					44	124					5.34276e-22	6.46101e-22	0.014410	1	0
ST18	9705	broad.mit.edu	37	8	53044649	53044649	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:53044649C>G	ENST00000276480.7	-	22	3218	c.2535G>C	c.(2533-2535)aaG>aaC	p.K845N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	845						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCTTCTGTCTCTTGGCAGCCA	0.522000													14	60					0	0	0.016723	0	0
CASZ1	54897	broad.mit.edu	37	1	10720212	10720212	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:10720212G>A	ENST00000377022.3	-	6	1204	c.887C>T	c.(886-888)tCg>tTg	p.S296L	CASZ1_ENST00000344008.5_Missense_Mutation_p.S296L	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTGCTGTGCGACGGCAGGGG	0.657000													85	68					0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52336282	52336282	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:52336282G>T	ENST00000356297.4	-	14	1748	c.1648C>A	c.(1648-1650)Cag>Aag	p.Q550K	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q550K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	550	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCAGTAATCTGCACACCTTCC	0.418000													12	43					7.03913e-09	7.70599e-09	0.013537	1	0
RBBP6	5930	broad.mit.edu	37	16	24551988	24551988	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr16:24551988A>G	ENST00000319715.4	+	1	473	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	RBBP6_ENST00000381039.3_Missense_Mutation_p.Y14C|RBBP6_ENST00000452655.2_Missense_Mutation_p.Y14C|RBBP6_ENST00000348022.2_Missense_Mutation_p.Y14C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	14	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAACTCAACTATGATACCGTC	0.473000													20	72					0	0	0.012319	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171893	102171893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:102171893C>A	ENST00000306176.1	+	3	385	c.285C>A	c.(283-285)tgC>tgA	p.C95*	ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.C79*|ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.C79*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	79	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTCCCACTGCAGAGGGTTCA	0.453000													74	36					4.09166e-32	5.06586e-32	0.014410	1	0
ZNRF4	148066	broad.mit.edu	37	19	5455922	5455922	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:5455922C>T	ENST00000222033.4	+	1	497	c.420C>T	c.(418-420)aaC>aaT	p.N140N		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	140	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGCCAGCCAACGCGTGCCATC	0.672000													22	67					0	0	0.027356	0	0
BEND6	221336	broad.mit.edu	37	6	56857219	56857219	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:56857219C>T	ENST00000370748.3	+	3	599	c.164C>T	c.(163-165)tCc>tTc	p.S55F	BEND6_ENST00000370750.2_Missense_Mutation_p.S55F|BEND6_ENST00000370745.1_Missense_Mutation_p.S55F|BEND6_ENST00000370746.3_Missense_Mutation_p.S55F			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	55										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GGTGAAAGCTCCAGTGAGGAT	0.403000													55	209					0	0	0.014410	0	0
WDR5B	54554	broad.mit.edu	37	3	122133906	122133906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:122133906C>T	ENST00000330689.4	-	1	976	c.470G>A	c.(469-471)gGa>gAa	p.G157E		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	157										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GAGACACTTTCCTGTTTTCAC	0.403000													22	81					0	0	0.010504	0	0
ZNF543	125919	broad.mit.edu	37	19	57839395	57839395	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:57839395G>A	ENST00000321545.4	+	4	910	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACCAGTTACAGATGCCTTGAT	0.403000													29	81					0	0	0.045705	0	0
CCDC40	55036	broad.mit.edu	37	17	78063685	78063685	+	Splice_Site	SNP	T	T	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr17:78063685T>G	ENST00000397545.4	+	17	2859		c.e17+2		CCDC40_ENST00000374877.3_Splice_Site|CCDC40_ENST00000573903.1_Splice_Site	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGATGAAGGTGAGGGGAGGA	0.627000													10	32					0	0	0.006214	0	0
AHSG	197	broad.mit.edu	37	3	186338468	186338468	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:186338468G>A	ENST00000411641.2	+	7	1072	c.853G>A	c.(853-855)Gca>Aca	p.A285T	AHSG_ENST00000273784.5_Missense_Mutation_p.A286T			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	285					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.A285T(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TCCACTTGGCGCACCTGGACT	0.642000													126	83					0	0	0.014410	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868639	112868639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:112868639C>T	ENST00000161863.4	+	5	952	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q247*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	247	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATTTTGTACTCAACCAAGACG	0.398000													4	74					0	0	0.014758	0	0
BRE	9577	broad.mit.edu	37	2	28210901	28210901	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:28210901G>A	ENST00000344773.2	+	4	385	c.247G>A	c.(247-249)Gat>Aat	p.D83N	BRE_ENST00000603461.1_3'UTR|BRE_ENST00000379624.1_Missense_Mutation_p.D83N|BRE_ENST00000379632.2_Missense_Mutation_p.D83N|BRE_ENST00000361704.2_Missense_Mutation_p.D83N|BRE_ENST00000342045.2_Missense_Mutation_p.D83N	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	83	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					ACTGCCTCCCGATTTTATCTT	0.398000													94	326					0	0	0.014410	0	0
ABCC8	6833	broad.mit.edu	37	11	17428479	17428479	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:17428479C>T	ENST00000302539.4	-	25	3246	c.3121G>A	c.(3121-3123)Gcc>Acc	p.A1041T	ABCC8_ENST00000389817.3_Missense_Mutation_p.A1040T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1040	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGGTCAGGGCGCTGTCGGTC	0.652000													6	87					0	0	0.021553	0	0
FNDC1	84624	broad.mit.edu	37	6	159653481	159653481	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:159653481A>G	ENST00000297267.9	+	11	2137	c.1937A>G	c.(1936-1938)gAc>gGc	p.D646G	FNDC1_ENST00000340366.6_Missense_Mutation_p.D583G	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	646						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GACTTGGTGGACTCAGACGAA	0.697000													9	50					0	0	0.006214	0	0
CPA5	93979	broad.mit.edu	37	7	130002807	130002807	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:130002807C>T	ENST00000485477.1	+	8	1848	c.719C>T	c.(718-720)cCt>cTt	p.P240L	CPA5_ENST00000466363.2_Missense_Mutation_p.P240L|CPA5_ENST00000461828.1_Missense_Mutation_p.P240L|CPA5_ENST00000431780.2_Missense_Mutation_p.P240L|CPA5_ENST00000355388.3_Missense_Mutation_p.P240L|CPA5_ENST00000474905.1_Missense_Mutation_p.P240L|CPA5_ENST00000393213.3_Missense_Mutation_p.P240L			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	240					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GTCACAAACCCTGATGGGTTT	0.502000													3	41					0	0	0.009096	0	0
RAB1A	5861	broad.mit.edu	37	2	65318142	65318142	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:65318142A>G	ENST00000409784.3	-	4	453	c.263T>C	c.(262-264)aTa>aCa	p.I88T	RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000409892.1_Intron|RAB1A_ENST00000356214.7_Intron|RAB1A_ENST00000409751.1_Missense_Mutation_p.I56T	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	88					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						ATACACAACTATGATGCCATG	0.398000													4	26					0	0	0.021553	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886149	88886149	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:88886149C>A	ENST00000319675.3	-	1	147	c.51G>T	c.(49-51)aaG>aaT	p.K17N		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	17										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCTGACTGTCTTTTTCTGCT	0.537000													18	52					3.5997e-14	4.20639e-14	0.014323	1	0
PRDM2	7799	broad.mit.edu	37	1	14075948	14075948	+	Silent	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:14075948C>A	ENST00000235372.7	+	6	1333	c.477C>A	c.(475-477)gcC>gcA	p.A159A	PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.A159A|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.A159A|PRDM2_ENST00000413440.1_5'UTR	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	159						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGCCAGCGCCCGGAGCAAGC	0.731000													8	13					2.17888e-05	2.26603e-05	0.006214	1	0
PLIN2	123	broad.mit.edu	37	9	19126190	19126190	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:19126190C>A	ENST00000276914.2	-	3	327	c.148G>T	c.(148-150)Gca>Tca	p.A50S	PLIN2_ENST00000411567.1_Missense_Mutation_p.A50S|PLIN2_ENST00000380464.3_Missense_Mutation_p.A50S|PLIN2_ENST00000380465.3_Missense_Mutation_p.A50S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	50					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CCGTTCTCTGCCATCTCACAC	0.517000													39	82					1.59361e-14	1.88336e-14	0.027894	1	0
PIP5K1C	23396	broad.mit.edu	37	19	3648623	3648623	+	Splice_Site	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:3648623C>A	ENST00000335312.3	-	9	1299	c.1211_splice	c.e9+1	p.R404_splice	PIP5K1C_ENST00000589578.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000539785.1_Splice_Site_p.R404_splice|PIP5K1C_ENST00000537021.1_Splice_Site_p.R404_splice	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	404	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGCACCCACCTGTAGGACTG	0.706000													15	57					5.3912e-06	5.72128e-06	0.038395	1	0
LAMB4	22798	broad.mit.edu	37	7	107732207	107732207	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:107732207T>C	ENST00000388781.3	-	14	1648	c.1565A>G	c.(1564-1566)aAt>aGt	p.N522S	LAMB4_ENST00000414450.2_Missense_Mutation_p.N522S|LAMB4_ENST00000388780.3_Missense_Mutation_p.N522S|LAMB4_ENST00000205386.4_Missense_Mutation_p.N522S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	522	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACACTGCCCATTCTTGGGTGA	0.502000													18	69					0	0	0.043863	0	0
OR8D2	283160	broad.mit.edu	37	11	124189328	124189328	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:124189328T>A	ENST00000357438.2	-	1	856	c.766A>T	c.(766-768)Aca>Tca	p.T256S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TACATGAATGTTATAGACCCA	0.438000													37	81					0	0	0.021022	0	0
ROBO1	6091	broad.mit.edu	37	3	78987994	78987994	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:78987994T>G	ENST00000436010.2	-	2	1136	c.139A>C	c.(139-141)Act>Cct	p.T47P	ROBO1_ENST00000495273.1_Missense_Mutation_p.T47P|ROBO1_ENST00000464233.1_Missense_Mutation_p.T86P|ROBO1_ENST00000467549.1_Missense_Mutation_p.T47P			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	86					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTTCAAAGTTGCAGGTTCT	0.507000													21	55					0	0	0.014323	0	0
ADH6	130	broad.mit.edu	37	4	100131636	100131636	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:100131636G>A	ENST00000394897.1	-	4	368	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Silent_p.L96L|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Silent_p.L96L|RP11-696N14.1_ENST00000506160.1_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	96					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CACTGTGGCAGAAAGAGTGTG	0.303000													28	80					0	0	0.012213	0	0
CUL9	23113	broad.mit.edu	37	6	43189000	43189000	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:43189000C>T	ENST00000252050.4	+	34	6777	c.6693C>T	c.(6691-6693)ctC>ctT	p.L2231L	CUL9_ENST00000354495.3_Silent_p.L2121L|CUL9_ENST00000372647.2_Silent_p.L2203L|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2231					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGCCAAGCTCATCTCCAAGC	0.612000													12	39					0	0	0.013537	0	0
KDM2B	84678	broad.mit.edu	37	12	122018774	122018774	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr12:122018774G>A	ENST00000377071.4	-	1	115	c.43C>T	c.(43-45)Cca>Tca	p.P15S	KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Missense_Mutation_p.P15S|RP13-941N14.1_ENST00000541574.1_lincRNA	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	15					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTTTTCGTGGGGGGTGATCC	0.483000													32	135					0	0	0.045705	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	63					0	0	0.021553	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386794	20386794	+	RNA	SNP	A	A	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr22:20386794A>C	ENST00000430523.3	-	0	1718					NR_003563.1																						CCACCCCCAAAAGGCAGGTTG	0.597000													5	15					0	0	0.014758	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583549	145583549	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:145583549C>T	ENST00000532887.1	+	3	980	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	SLC52A2_ENST00000329994.2_Silent_p.L133L|SLC52A2_ENST00000402965.1_Silent_p.L133L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.L133L|SLC52A2_ENST00000527078.1_Silent_p.L133L|SLC52A2_ENST00000540505.1_Silent_p.L45L|SLC52A2_ENST00000526891.1_3'UTR			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	133						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGTCACTTTCCTGCCCTTCTT	0.602000													65	281					0	0	0.014410	0	0
REG3A	5068	broad.mit.edu	37	2	79385538	79385538	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:79385538C>G	ENST00000393878.1	-	3	501	c.247G>C	c.(247-249)Gct>Cct	p.A83P	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.A83P|REG3A_ENST00000409839.3_Missense_Mutation_p.A83P	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	83	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GATCCCTCAGCCCCACTGAGC	0.572000													12	67					0	0	0.013537	0	0
SOX3	6658	broad.mit.edu	37	X	139586674	139586674	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chrX:139586674C>T	ENST00000370536.2	-	1	551	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	184					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					ATGGTCGCTTCTCGGCGTCGG	0.612000													4	50					0	0	0.009096	0	0
PTEN	5728	broad.mit.edu	37	10	89692794	89692794	+	Missense_Mutation	SNP	A	A	G	rs121909238		TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr10:89692794A>G	ENST00000371953.3	+	5	1635	c.278A>G	c.(277-279)cAt>cGt	p.H93R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	93	Phosphatase tensin-type.		H -> R (in MCEPHAS).|H -> Y (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.H93R(3)|p.Y27fs*1(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTGAAGACCATAACCCACCA	0.338000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			21	63					0	0	0.018920	0	0
DIP2A	23181	broad.mit.edu	37	21	47977603	47977603	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr21:47977603C>G	ENST00000318711.7	+	31	3921	c.3738C>G	c.(3736-3738)ttC>ttG	p.F1246L	DIP2A_ENST00000417564.2_Missense_Mutation_p.F1245L|DIP2A_ENST00000400274.1_Missense_Mutation_p.F1241L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1245					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCGTCACCTTCTGCTCCTACT	0.637000													8	18					0	0	0.006214	0	0
TTC17	55761	broad.mit.edu	37	11	43418289	43418289	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:43418289G>T	ENST00000039989.4	+	6	708	c.694G>T	c.(694-696)Gct>Tct	p.A232S	TTC17_ENST00000299240.6_Missense_Mutation_p.A232S|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	232							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTATAACATGGCTTCATTTTA	0.388000													15	66					0.000308642	0.000314694	0.024245	1	0
ANGPT4	51378	broad.mit.edu	37	20	896725	896725	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:896725A>C	ENST00000381922.3	-	1	235	c.133T>G	c.(133-135)Tac>Gac	p.Y45D	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Y45D	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	45					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AAGAAGGTGTAGCTACAGTGG	0.607000													19	65					0	0	0.038395	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533063	166533063	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:166533063G>A	ENST00000314499.7	+	6	1026	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R217Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R249Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	217	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGTGACTGCCGAGTGTTCTGT	0.542000													21	50					0	0	0.010504	0	0
MROH2B	133558	broad.mit.edu	37	5	41008749	41008749	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:41008749C>T	ENST00000399564.4	-	33	4017	c.3567G>A	c.(3565-3567)gtG>gtA	p.V1189V	MROH2B_ENST00000506092.2_Silent_p.V744V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCTGCTGCATCACATGCCGCC	0.567000													34	51					0	0	0.015359	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962521	41962521	+	RNA	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr9:41962521G>A	ENST00000454645.1	-	0	983					NR_003670.1																						AAATCTCCCTGCTGGAACTGG	0.328000													3	10					0	0	0.004672	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067095	18067095	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr7:18067095C>A	ENST00000506618.2	-	1	391	c.311G>T	c.(310-312)cGg>cTg	p.R104L		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	104					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATTGGGGACCGGCTCTTATC	0.468000													36	110					6.90743e-12	7.98191e-12	0.017118	1	0
OR52B2	255725	broad.mit.edu	37	11	6191145	6191145	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:6191145G>A	ENST00000530810.1	-	1	493	c.412C>T	c.(412-414)Cta>Tta	p.L138L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATGTTAGCACTGTTGTA	0.512000													9	49					0	0	0.006214	0	0
COL4A4	1286	broad.mit.edu	37	2	227912248	227912248	+	Missense_Mutation	SNP	C	C	T	rs77277077	by1000genomes	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:227912248C>T	ENST00000396625.3	-	35	3439	c.3232G>A	c.(3232-3234)Gcc>Acc	p.A1078T	COL4A4_ENST00000329662.7_Missense_Mutation_p.A1078T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1078	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAGTGACTGGCAGGGTCACCT	0.398000													12	21					0	0	0.013537	0	0
WHSC1	7468	broad.mit.edu	37	4	1902895	1902895	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:1902895A>T	ENST00000503128.1	+	2	721	c.514A>T	c.(514-516)Agc>Tgc	p.S172C	WHSC1_ENST00000436793.1_Missense_Mutation_p.S172C|WHSC1_ENST00000420906.2_Missense_Mutation_p.S172C|WHSC1_ENST00000508803.1_Missense_Mutation_p.S172C|WHSC1_ENST00000514045.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382891.5_Missense_Mutation_p.S172C|WHSC1_ENST00000382892.2_Missense_Mutation_p.S172C|WHSC1_ENST00000398261.1_Missense_Mutation_p.S172C|WHSC1_ENST00000382895.3_Missense_Mutation_p.S172C			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	172					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAGGAAGAGGAGCATAAAATA	0.438000			T	IGH@	MM								12	22					0	0	0.010729	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160266481	160266481	+	Splice_Site	SNP	T	T	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:160266481T>G	ENST00000264431.4	+	18	3438	c.3019_splice	c.e18+1	p.L1007_splice		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1007					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AACCAACACATGTGAGTTTTT	0.463000													11	56					0	0	0.010729	0	0
DUSP22	56940	broad.mit.edu	37	6	348127	348127	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:348127G>A	ENST00000419235.2	+	6	366	c.288G>A	c.(286-288)gtG>gtA	p.V96V	DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.V96V|DUSP22_ENST00000605035.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	96	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CCAGGAGCGTGACACTGGTGA	0.612000													50	280					0	0	0.014410	0	0
LRBA	987	broad.mit.edu	37	4	151773953	151773953	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr4:151773953C>A	ENST00000535741.1	-	23	3382	c.2909G>T	c.(2908-2910)gGa>gTa	p.G970V	LRBA_ENST00000510413.1_Missense_Mutation_p.G970V|LRBA_ENST00000507224.1_Missense_Mutation_p.G970V|LRBA_ENST00000357115.3_Missense_Mutation_p.G970V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	970						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGCTGGGATCCTACTGAAAC	0.403000													12	41					7.03913e-09	7.70599e-09	0.013537	1	0
SLC5A12	159963	broad.mit.edu	37	11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:26734241G>A	ENST00000396005.3	-	2	661	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_ENST00000280467.6_Nonsense_Mutation_p.R118*	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	118					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTTGAATCGTAGTTGTAAG	0.418000													60	189					0	0	0.014410	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841569	36841569	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:36841569G>A	ENST00000279024.4	-	14	3749	c.3478C>T	c.(3478-3480)Cgg>Tgg	p.R1160W		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1160										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTGCTGCCGGAAGAAGGTG	0.647000													17	74					0	0	0.014323	0	0
ZNF638	27332	broad.mit.edu	37	2	71633384	71633384	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:71633384A>G	ENST00000409544.1	+	19	3757	c.3127A>G	c.(3127-3129)Aga>Gga	p.R1043G	ZNF638_ENST00000355812.3_Missense_Mutation_p.R1043G|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1043G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1043					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CATAAGTAATAGAAACAAGGT	0.343000													14	40					0	0	0.024245	0	0
BTBD8	284697	broad.mit.edu	37	1	92604948	92604948	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:92604948A>G	ENST00000370382.3	+	6	1061	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	BTBD8_ENST00000540648.1_Missense_Mutation_p.Y265C|BTBD8_ENST00000342818.3_Missense_Mutation_p.Y265C			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	265	BTB 2.					nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CATTTTATATATGGAGGAACT	0.294000													22	97					0	0	0.018920	0	0
HNRNPU	3192	broad.mit.edu	37	1	245021401	245021401	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:245021401A>G	ENST00000444376.2	-	7	1583	c.1349T>C	c.(1348-1350)aTa>aCa	p.I450T	HNRNPU_ENST00000283179.9_Missense_Mutation_p.I469T	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	469	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTCTTCAGGTATTGGAAAATA	0.438000													13	49					0	0	0.013537	0	0
LRFN2	57497	broad.mit.edu	37	6	40360344	40360344	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:40360344C>T	ENST00000338305.6	-	3	2250	c.1708G>A	c.(1708-1710)Gcg>Acg	p.A570T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	570						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCACGGCCGCTGCCATCTTG	0.677000													7	41					0	0	0.004482	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186946794	186946794	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:186946794T>A	ENST00000367466.3	+	16	1986	c.1834T>A	c.(1834-1836)Ttt>Att	p.F612I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F552I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	612	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TCCTTATGTGTTTGATCGGGA	0.418000													23	77					0	0	0.018920	0	0
RNF19B	127544	broad.mit.edu	37	1	33402524	33402524	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:33402524G>A	ENST00000373456.7	-	9	2081	c.2082C>T	c.(2080-2082)gcC>gcT	p.A694A	RNF19B_ENST00000235150.4_Silent_p.A693A|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	694						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCGAGGGGCAGGCTGCAGTAT	0.587000													41	117					0	0	0.025465	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37464808	37464808	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:37464808C>A	ENST00000299824.1	+	2	429	c.240C>A	c.(238-240)gaC>gaA	p.D80E	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D80E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	80					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGAGGAACGACGCCGAGGAAG	0.652000													12	41					6.72482e-11	7.68551e-11	0.024245	1	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													5	80					0	0	0.029380	0	0
NIPBL	25836	broad.mit.edu	37	5	37008756	37008756	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr5:37008756T>G	ENST00000282516.8	+	20	4851	c.4352T>G	c.(4351-4353)tTa>tGa	p.L1451*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L1451*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1451					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATAGGCAGTTAATTTTGGAA	0.279000													24	116					0	0	0.037714	0	0
ASPM	259266	broad.mit.edu	37	1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:197091601G>A	ENST00000367409.4	-	14	3771	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1172	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.T1172M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTTTGCGTACATTCCAC	0.413000													9	38					0	0	0.010729	0	0
TPP2	7174	broad.mit.edu	37	13	103295686	103295686	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr13:103295686T>C	ENST00000376052.3	+	17	2151	c.2135T>C	c.(2134-2136)cTt>cCt	p.L712P	TPP2_ENST00000376065.4_Missense_Mutation_p.L712P			P29144	TPP2_HUMAN	tripeptidyl peptidase II	712					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTGTTCTCTTCCAGAGAAA	0.373000													12	32					0	0	0.016723	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522727	95522727	+	RNA	SNP	C	C	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:95522727C>A	ENST00000432432.2	-	0	300					NR_040113.1													p.R64L(2)									CTGCTTGTCCCGGGCGTCCAG	0.731000													3	39					8.12818e-05	8.36962e-05	0.029380	1	0
YWHAB	7529	broad.mit.edu	37	20	43530339	43530339	+	Silent	SNP	C	C	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr20:43530339C>T	ENST00000372839.3	+	3	439	c.165C>T	c.(163-165)ggC>ggT	p.G55G	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Silent_p.G55G	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	55					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				ATGTGGTAGGCGCCCGCCGCT	0.512000													23	41					0	0	0.016522	0	0
MUC16	94025	broad.mit.edu	37	19	8966769	8966769	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:8966769A>G	ENST00000397910.4	-	81	43387	c.43184T>C	c.(43183-43185)tTc>tCc	p.F14395S	MUC16_ENST00000380951.5_Missense_Mutation_p.F1036S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14493				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTGGCGAGAAGTTACACAG	0.527000													2	7					0	0	0.004672	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072879	96072879	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr2:96072879G>A	ENST00000233379.4	+	3	589	c.436G>A	c.(436-438)Gag>Aag	p.E146K	FAHD2A_ENST00000447036.1_Missense_Mutation_p.E146K	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	146							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GCCCTATGATGAGGTGGTCCT	0.562000													18	88					0	0	0.012319	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691302	10691302	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr18:10691302G>A	ENST00000302079.6	-	44	6930	c.6931C>T	c.(6931-6933)Cgt>Tgt	p.R2311C	PIEZO2_ENST00000503781.3_Missense_Mutation_p.R2311C|PIEZO2_ENST00000538948.1_Missense_Mutation_p.R268C|PIEZO2_ENST00000580640.1_Missense_Mutation_p.R2336C|PIEZO2_ENST00000285141.4_Missense_Mutation_p.R166C			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2311						integral to membrane	ion channel activity										TAGCCACAACGGATCTGGTAA	0.468000													28	69					0	0	0.027356	0	0
PPIL1	51645	broad.mit.edu	37	6	36824426	36824426	+	Silent	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:36824426T>C	ENST00000373699.5	-	3	467	c.216A>G	c.(214-216)cgA>cgG	p.R72R	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	72	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ATGCACCACCTCGACCTGCCC	0.458000													12	45					0	0	0.013537	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144923767	144923767	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:144923767T>C	ENST00000529945.1	-	2	1619	c.1180A>G	c.(1180-1182)Ata>Gta	p.I394V	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I18V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I368V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I394V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I368V|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I231V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I231V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I297V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	231					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTGAGTTATAGTGGTCTCA	0.448000			T	PDGFRB	MPD								32	221					0	0	0.045705	0	0
TH	7054	broad.mit.edu	37	11	2190937	2190937	+	Silent	SNP	G	G	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr11:2190937G>A	ENST00000381178.1	-	3	366	c.348C>T	c.(346-348)ctC>ctT	p.L116L	TH_ENST00000381175.1_Silent_p.L112L|TH_ENST00000333684.5_Silent_p.L89L|TH_ENST00000352909.3_Silent_p.L85L	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	116					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TCGGGGAGAAGAGCAGGTTTA	0.672000													30	71					0	0	0.017118	0	0
TFAP2A	7020	broad.mit.edu	37	6	10415240	10415240	+	Translation_Start_Site	SNP	G	G	C			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr6:10415240G>C	ENST00000379613.3	-	0	241				TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379604.2_De_novo_Start_InFrame|RP1-290I10.6_ENST00000443546.1_RNA|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000482890.1_De_novo_Start_InFrame			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)						ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GGCGTGAACGGATATGCCCCT	0.592000											OREG0017182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	66					0	0	0.020292	0	0
CASZ1	54897	broad.mit.edu	37	1	10715709	10715710	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:10715709_10715710insA	ENST00000377022.3	-	9	1978_1979	c.1661_1662insT	c.(1660-1662)acafs	p.T554fs	CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.T554fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GAGGCACCTGCATGCAGTGATA	0.678													18	11	---	---	---	---					
A3GALT2	127550	broad.mit.edu	37	1	33772519	33772519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr1:33772519delC	ENST00000442999.3	-	5	870	c.871delG	c.(871-873)agfs	p.E291fs	A3GALT2_ENST00000330379.5_Frame_Shift_Del_p.E236fs	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2														Myeloproliferative disorder(586;0.0393)				AGGTGGCTCTCGTCGTGCCAG	0.736													2	4	---	---	---	---					
TRIM59	286827	broad.mit.edu	37	3	160156068	160156069	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr3:160156068_160156069delTG	ENST00000543469.1	-	2	1117_1118	c.903_904delCA	c.(901-906)ctttfs	p.LI301fs	TRIM59_ENST00000309784.4_Frame_Shift_Del_p.LI301fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.LI301fs			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	301						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTTTGGGAATGAGAACGTTCT	0.342													27	110	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145008578	145008579	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr8:145008578_145008579insG	ENST00000322810.4	-	11	1656_1657	c.1487_1488insC	c.(1486-1488)cggfs	p.R496fs	PLEC_ENST00000398774.2_Frame_Shift_Ins_p.R327fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.R345fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.R337fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.R386fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.R359fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.R363fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.R382fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	496	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTGGTAGCCAGGGGGCACCTT	0.673													35	73	---	---	---	---					
POTEG	404785	broad.mit.edu	37	14	19553545	19553545	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr14:19553545delG	ENST00000409832.3	+	1	181	c.129delG	c.(127-129)gtfs	p.V43fs		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	43										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAGCAACGTGGGCACTTCTG	0.602													48	619	---	---	---	---					
RGS9	8787	broad.mit.edu	37	17	63223491	63223491	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr17:63223491delA	ENST00000449996.3	+	19	2054	c.1982delA	c.(1981-1983)gafs	p.E661fs	RGS9_ENST00000262406.9_Frame_Shift_Del_p.E664fs	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	664					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGGGCCACAGAAAAGGAGGTC	0.582													13	36	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20635101	20635102	+	RNA	INS	-	-	T			TCGA-CR-7369-01A-11D-2129-08	TCGA-CR-7369-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f16a5c08-c9f8-442e-ba13-45681cacda40	1455ebfe-ee2b-43e5-a4bb-993118f35835	g.chr19:20635101_20635102insT	ENST00000598131.1	+	0	256																											ACAGGTAGGTGTTTTTTTTGCT	0.416													3	4	---	---	---	---					
