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
EFNB1	1947	broad.mit.edu	37	X	68060218	68060218	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chrX:68060218C>T	ENST00000204961.4	+	5	1542	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	254					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TCCTGCTCATCATCATCTTCC	0.617000													7	33					0	0	0.001984	0	0
ZNF835	90485	broad.mit.edu	37	19	57175063	57175063	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:57175063G>A	ENST00000537055.2	-	2	1735	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGGCAAAGGCGTCCCGAACTG	0.647000													21	169					0	0	0.002299	0	0
PTK7	5754	broad.mit.edu	37	6	43109431	43109431	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:43109431G>A	ENST00000230419.4	+	11	1865	c.1644G>A	c.(1642-1644)gtG>gtA	p.V548V	PTK7_ENST00000352931.2_Silent_p.V548V|PTK7_ENST00000349241.2_Silent_p.V418V|PTK7_ENST00000481273.1_Silent_p.V556V|PTK7_ENST00000345201.2_Silent_p.V508V	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	548	Ig-like C2-type 6.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGAGTGGGTGACAGACAACG	0.572000													9	135					0	0	0.006214	0	0
FGFR4	2264	broad.mit.edu	37	5	176520438	176520438	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:176520438C>T	ENST00000393648.2	+	10	1311	c.1129C>T	c.(1129-1131)Caa>Taa	p.Q377*	FGFR4_ENST00000502906.1_Missense_Mutation_p.S428L|FGFR4_ENST00000292408.4_Missense_Mutation_p.S428L|FGFR4_ENST00000393637.1_Missense_Mutation_p.S388L|FGFR4_ENST00000292410.3_Missense_Mutation_p.S388L			P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	0					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TCCGGCAAGTCAAGCTCATCC	0.622000										TSP Lung(9;0.080)			15	124					0	0	0.002450	0	0
USP48	84196	broad.mit.edu	37	1	22032648	22032648	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:22032648G>C	ENST00000308271.9	-	18	2892	c.2244C>G	c.(2242-2244)ttC>ttG	p.F748L	USP48_ENST00000374732.3_Missense_Mutation_p.F286L|USP48_ENST00000529637.1_Missense_Mutation_p.F760L|USP48_ENST00000400301.1_Missense_Mutation_p.F748L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	748	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTTCTACAAAGAACTGAGACA	0.343000													3	49					0	0	0.000248	0	0
MORC2	22880	broad.mit.edu	37	22	31328534	31328534	+	Silent	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr22:31328534G>C	ENST00000215862.4	-	24	3922	c.2559C>G	c.(2557-2559)ctC>ctG	p.L853L	MORC2_ENST00000397641.2_Silent_p.L915L	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	915							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ACATGTACCGGAGGATCTGGA	0.562000													13	61					0	0	0.001368	0	0
USP47	55031	broad.mit.edu	37	11	11972026	11972026	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:11972026G>C	ENST00000339865.5	+	23	4139	c.3376G>C	c.(3376-3378)Gat>Cat	p.D1126H	USP47_ENST00000399455.2_Missense_Mutation_p.D1214H|USP47_ENST00000527733.1_Missense_Mutation_p.D1194H|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000305481.6_3'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1214					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGAAGTTCTTGATGGTATTTT	0.318000													7	73					0	0	0.004482	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120291464	120291464	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:120291464C>G	ENST00000397843.2	+	5	368	c.202C>G	c.(202-204)Ctt>Gtt	p.L68V	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L49V|ARHGEF12_ENST00000532993.1_5'UTR	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	68					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTGTGCAGGTCTTGTTCAGCG	0.403000			T	MLL	AML								4	34					0	0	0.000248	0	0
C10orf120	399814	broad.mit.edu	37	10	124457724	124457724	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr10:124457724C>A	ENST00000329446.4	-	3	564	c.533G>T	c.(532-534)gGa>gTa	p.G178V		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	178								p.G178E(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTGATGATTTCCCAGAGCCCG	0.507000													17	104					1.96292e-10	2.97823e-10	0.001523	1	0
TTLL3	26140	broad.mit.edu	37	3	9870813	9870813	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:9870813G>A	ENST00000383827.1	+	4	2933	c.652G>A	c.(652-654)Gat>Aat	p.D218N	TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000397241.1_Missense_Mutation_p.D218N|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.D491N|TTLL3_ENST00000547186.1_Missense_Mutation_p.D430N|TTLL3_ENST00000426895.4_Missense_Mutation_p.D573N|TTLL3_ENST00000430793.1_Missense_Mutation_p.D218N|TTLL3_ENST00000427853.3_Missense_Mutation_p.D218N|TTLL3_ENST00000455274.1_Missense_Mutation_p.D218N			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	430	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGGCATGAAGGATGCTGTGAT	0.587000													6	34					0	0	0.001168	0	0
STIP1	10963	broad.mit.edu	37	11	63971032	63971032	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:63971032G>C	ENST00000358794.5	+	13	2191	c.1638G>C	c.(1636-1638)atG>atC	p.M546I	STIP1_ENST00000538945.1_Missense_Mutation_p.M475I|STIP1_ENST00000305218.4_Missense_Mutation_p.M499I			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	499					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGCAGATCATGAGTGACCCAG	0.597000													5	42					0	0	0.000602	0	0
TMEM133	83935	broad.mit.edu	37	11	100863119	100863119	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:100863119G>T	ENST00000303130.2	+	1	309	c.80G>T	c.(79-81)tGt>tTt	p.C27F		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	27						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CTTGACTATTGTCCAGAAGTT	0.438000													23	77					3.5997e-14	5.577e-14	0.002299	1	0
MT1X	4501	broad.mit.edu	37	16	56716476	56716476	+	Silent	SNP	G	G	A	rs147291148		TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:56716476G>A	ENST00000562939.1	+	1	95	c.24G>A	c.(22-24)tcG>tcA	p.S8S	MT1X_ENST00000394485.4_Silent_p.S8S|RP11-343H19.2_ENST00000567563.1_RNA			P80297	MT1X_HUMAN	metallothionein 1X	8	Beta.				response to metal ion		metal ion binding			kidney(2)	2						GCTCCTGCTCGCCTGGTAAGG	0.557000													20	161					0	0	0.001523	0	0
HNRNPK	3190	broad.mit.edu	37	9	86587088	86587088	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:86587088C>T	ENST00000376263.3	-	11	885	c.662G>A	c.(661-663)cGt>cAt	p.R221H	HNRNPK_ENST00000351839.3_Missense_Mutation_p.R221H|HNRNPK_ENST00000376281.4_Missense_Mutation_p.R221H|HNRNPK_ENST00000376264.2_Missense_Mutation_p.R221H|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R221H	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	221	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AGGCTGTGCACGTCCTTTGAT	0.418000													6	41					0	0	0.001984	0	0
FLT1	2321	broad.mit.edu	37	13	28885795	28885795	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr13:28885795G>A	ENST00000282397.4	-	27	3818	c.3567C>T	c.(3565-3567)ttC>ttT	p.F1189F	FLT1_ENST00000543394.1_Silent_p.F212F|FLT1_ENST00000540678.1_Silent_p.F407F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1189					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGTCCTCAGAGAAGGCAGGAG	0.398000													6	28					0	0	0.001168	0	0
THAP9	79725	broad.mit.edu	37	4	83827511	83827511	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:83827511G>C	ENST00000302236.5	+	3	362	c.311G>C	c.(310-312)aGa>aCa	p.R104T		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	104							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGTAAAGCAAGACAAAAAATC	0.318000													7	115					0	0	0.001984	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144070344	144070344	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:144070344C>T	ENST00000056217.5	+	10	4281	c.4107C>T	c.(4105-4107)atC>atT	p.I1369I	ARHGEF5_ENST00000471847.2_Silent_p.I291I	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1369					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAACTAATCTACCTGAGCC	0.532000													13	198					0	0	0.002450	0	0
OR51M1	390059	broad.mit.edu	37	11	5411219	5411219	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:5411219A>G	ENST00000328611.3	+	1	613	c.591A>G	c.(589-591)atA>atG	p.I197M	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	197						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGTGATACAGCTGGCCT	0.507000													11	136					0	0	0.000978	0	0
SLC39A6	25800	broad.mit.edu	37	18	33692482	33692482	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr18:33692482C>T	ENST00000269187.5	-	8	2119	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	SLC39A6_ENST00000590986.1_Missense_Mutation_p.E636K|SLC39A6_ENST00000440549.2_Missense_Mutation_p.E361K	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	636						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TGAGGCAACTCATGACAGAAC	0.378000													6	147					0	0	0.003080	0	0
PTPRU	10076	broad.mit.edu	37	1	29618506	29618506	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:29618506C>T	ENST00000323874.8	+	15	2554	c.2444C>T	c.(2443-2445)tCc>tTc	p.S815F	PTPRU_ENST00000460170.2_Missense_Mutation_p.S815F|PTPRU_ENST00000428026.2_Missense_Mutation_p.S815F|PTPRU_ENST00000345512.3_Missense_Mutation_p.S825F|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.S815F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S815F			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	825	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGGGCCTGTCCTTCATGGAC	0.632000													7	72					0	0	0.006214	0	0
RBL2	5934	broad.mit.edu	37	16	53504409	53504409	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:53504409G>C	ENST00000262133.6	+	16	2497	c.2360G>C	c.(2359-2361)gGa>gCa	p.G787A	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	787	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCCCTGGCTGGAAGTCTGAGC	0.552000													7	67					0	0	0.003080	0	0
LSM3	27258	broad.mit.edu	37	3	14223145	14223145	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:14223145A>T	ENST00000306024.3	+	2	610	c.107A>T	c.(106-108)gAc>gTc	p.D36V		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	36					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						ATGAGAAATGACCGAGAGCTT	0.413000													17	101					0	0	0.004007	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040362	184040362	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:184040362C>T	ENST00000342981.4	+	11	2053	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Nonsense_Mutation_p.Q547*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.Q460*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.Q554*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.Q507*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.Q554*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.Q547*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.Q383*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.Q554*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.Q351*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.Q351*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.Q383*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.Q507*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.Q460*	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	547					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGGAAAATCAGCCTCCTGC	0.557000													4	31					0	0	0.000248	0	0
UBXN1	51035	broad.mit.edu	37	11	62445299	62445299	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:62445299C>G	ENST00000294119.2	-	6	619	c.488G>C	c.(487-489)aGa>aCa	p.R163T	UBXN1_ENST00000533000.1_Missense_Mutation_p.R21T|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.R163T|UBXN1_ENST00000529640.1_Missense_Mutation_p.R159T	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	163	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						TTCTCTAACTCTTTGTCTGAA	0.438000													10	75					0	0	0.006214	0	0
MATN4	8785	broad.mit.edu	37	20	43926892	43926892	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr20:43926892G>A	ENST00000537548.1	-	8	1588	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	MATN4_ENST00000342716.4_Silent_p.N448N|MATN4_ENST00000372756.1_Silent_p.N448N|MATN4_ENST00000360607.5_Silent_p.N407N|MATN4_ENST00000353917.5_Silent_p.N366N|MATN4_ENST00000372751.4_Silent_p.N299N|MATN4_ENST00000372754.1_Silent_p.N489N|MATN4_ENST00000372753.1_Silent_p.N299N			O95460	MATN4_HUMAN	matrilin 4	489	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACGAGGCACGTTAAGGGCAC	0.657000													5	62					0	0	0.000602	0	0
FKBP6	8468	broad.mit.edu	37	7	72744349	72744349	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:72744349C>T	ENST00000252037.4	+	4	531	c.462C>T	c.(460-462)ctC>ctT	p.L154L	FKBP6_ENST00000413573.2_Silent_p.L124L|FKBP6_ENST00000431982.2_Silent_p.L149L	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	154					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTTGTGCTCTCTCAGCTGTAA	0.498000													10	75					0	0	0.006214	0	0
CNP	1267	broad.mit.edu	37	17	40125654	40125654	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr17:40125654G>A	ENST00000393892.2	+	4	1122	c.978G>A	c.(976-978)ggG>ggA	p.G326G	CNP_ENST00000393888.1_Silent_p.G306G|CNP_ENST00000591072.1_Silent_p.G91G|CNP_ENST00000472031.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	326					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGCCGCGGGGGAGCCGCGCCC	0.647000													9	79					0	0	0.004482	0	0
SOX7	83595	broad.mit.edu	37	8	10583724	10583724	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:10583724G>A	ENST00000304501.1	-	2	769	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	SOX7_ENST00000554914.1_Missense_Mutation_p.P283S|SOX7_ENST00000553390.1_Missense_Mutation_p.P283S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	231					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ATGCGGCGGGGATGGCCATGC	0.687000													9	41					0	0	0.000978	0	0
ZNF107	51427	broad.mit.edu	37	7	64168600	64168600	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:64168600G>A	ENST00000395391.1	+	4	3293	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K	ZNF107_ENST00000344930.3_Missense_Mutation_p.E640K|ZNF107_ENST00000423627.1_Missense_Mutation_p.E640K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCAATGTGCAGAATGTGGCAA	0.373000													5	48					0	0	0.001168	0	0
DENND2A	27147	broad.mit.edu	37	7	140221722	140221722	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:140221722G>A	ENST00000275884.6	-	17	3261	c.2844C>T	c.(2842-2844)gtC>gtT	p.V948V	DENND2A_ENST00000496613.1_Silent_p.V948V|DENND2A_ENST00000537639.1_Silent_p.V948V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	948	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTCCATGAAGACCTCCAGGA	0.617000													4	47					0	0	0.000248	0	0
AHR	196	broad.mit.edu	37	7	17367416	17367416	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:17367416G>A	ENST00000242057.4	+	4	1037	c.394G>A	c.(394-396)Gat>Aat	p.D132N		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	132	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TGTCACTACAGATGCTTTGGT	0.279000													10	108					0	0	0.000978	0	0
AAAS	8086	broad.mit.edu	37	12	53709147	53709147	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:53709147A>G	ENST00000209873.4	-	4	536	c.371T>C	c.(370-372)cTc>cCc	p.L124P	AAAS_ENST00000394384.3_Missense_Mutation_p.L124P|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	124					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGACCCATGGAGGGAAGAGGC	0.562000													4	25					0	0	0.001168	0	0
OXTR	5021	broad.mit.edu	37	3	8809434	8809434	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:8809434G>A	ENST00000316793.3	-	3	1064	c.440C>T	c.(439-441)tCg>tTg	p.S147L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	147					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GCGGCGCAGCGAGCGCAGCGG	0.692000													4	24					0	0	0.000602	0	0
LCP2	3937	broad.mit.edu	37	5	169683535	169683535	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:169683535G>C	ENST00000046794.5	-	17	1760	c.1145C>G	c.(1144-1146)tCt>tGt	p.S382C	LCP2_ENST00000521416.1_Missense_Mutation_p.S177C	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	382					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CAAACCTTGAGAGAAGTATGG	0.453000													4	63					0	0	0.000602	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99217442	99217442	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:99217442G>A	ENST00000394152.2	+	4	540	c.213G>A	c.(211-213)ctG>ctA	p.L71L	ZSCAN25_ENST00000334715.3_Silent_p.L71L|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000262941.6_Silent_p.L71L	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GTCGGTGGCTGAGGCCCGAGT	0.622000													16	90					0	0	0.004990	0	0
RBM4	5936	broad.mit.edu	37	11	66407528	66407528	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:66407528G>C	ENST00000409406.1	+	1	1123	c.346G>C	c.(346-348)Gta>Cta	p.V116L	RBM4_ENST00000503028.2_Missense_Mutation_p.V116L|RBM4_ENST00000578778.1_Missense_Mutation_p.V116L|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Missense_Mutation_p.V116L|RBM4_ENST00000483858.1_Missense_Mutation_p.V116L|RBM4_ENST00000310092.7_Missense_Mutation_p.V116L|RBM4_ENST00000396053.4_Missense_Mutation_p.V116L|RBM4_ENST00000532968.1_Missense_Mutation_p.V116L|RBM4_ENST00000506523.2_Missense_Mutation_p.V116L|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.V116L|RBM4_ENST00000408993.2_Missense_Mutation_p.V116L|RBM14-RBM4_ENST00000412278.2_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TTATGCCTTCGTACACATGGA	0.527000													12	109					0	0	0.002450	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504343	151504343	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:151504343C>T	ENST00000317605.4	+	1	1267	c.162C>T	c.(160-162)agC>agT	p.S54S	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	54					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCTTCATCAGCTCCTTGAGCG	0.587000													6	27					0	0	0.001168	0	0
HGF	3082	broad.mit.edu	37	7	81335005	81335005	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:81335005C>T	ENST00000222390.5	-	16	2048	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	HGF_ENST00000457544.2_Missense_Mutation_p.E603K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	608	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTGGTCTTTTCAGGAATTGTG	0.358000													4	35					0	0	0.000602	0	0
CCDC138	165055	broad.mit.edu	37	2	109415023	109415023	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:109415023G>A	ENST00000295124.4	+	6	776	c.716G>A	c.(715-717)aGa>aAa	p.R239K	CCDC138_ENST00000412964.2_Missense_Mutation_p.R239K	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	239										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTTCTTACAAGATTTCAAATT	0.303000													6	58					0	0	0.001984	0	0
AGL	178	broad.mit.edu	37	1	100358154	100358154	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:100358154C>G	ENST00000294724.4	+	24	3728	c.3250C>G	c.(3250-3252)Cta>Gta	p.L1084V	AGL_ENST00000370161.2_Missense_Mutation_p.L1068V|AGL_ENST00000361522.4_Missense_Mutation_p.L1067V|AGL_ENST00000370163.3_Missense_Mutation_p.L1084V|AGL_ENST00000370165.3_Missense_Mutation_p.L1084V|AGL_ENST00000361302.3_Missense_Mutation_p.L1068V|AGL_ENST00000361915.3_Missense_Mutation_p.L1084V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1084					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTGTGTTTCTCTAGCTGCAGG	0.343000													4	23					0	0	0.000602	0	0
WDFY3	23001	broad.mit.edu	37	4	85722828	85722828	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:85722828G>C	ENST00000322366.6	-	17	3204	c.2797C>G	c.(2797-2799)Cag>Gag	p.Q933E	WDFY3_ENST00000295888.4_Missense_Mutation_p.Q933E			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	933						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCAGAGCCTGAGAGGCTAAT	0.483000													10	94					0	0	0.001368	0	0
CCR6	1235	broad.mit.edu	37	6	167550322	167550322	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:167550322C>A	ENST00000341935.5	+	3	1156	c.604C>A	c.(604-606)Cag>Aag	p.Q202K	CCR6_ENST00000400926.2_Missense_Mutation_p.Q202K|CCR6_ENST00000349984.4_Missense_Mutation_p.Q202K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	202					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		ACCCAAGTACCAGACTGTCTC	0.468000													8	69					0.00448238	0.00634163	0.004482	1	0
MEGF10	84466	broad.mit.edu	37	5	126792896	126792896	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:126792896G>A	ENST00000274473.6	+	26	3576	c.3309G>A	c.(3307-3309)aaG>aaA	p.K1103K	MEGF10_ENST00000503335.2_Silent_p.K1103K	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1103	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCTCCCAAAGAACAGTCACA	0.488000													11	110					0	0	0.000978	0	0
ADGRG1	9289	broad.mit.edu	37	16	57689439	57689439	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:57689439C>T	ENST00000562631.1	+	6	1429	c.897C>T	c.(895-897)ttC>ttT	p.F299F	GPR56_ENST00000568909.1_Silent_p.F299F|GPR56_ENST00000540164.2_Silent_p.F299F|GPR56_ENST00000544297.1_Silent_p.F124F|GPR56_ENST00000379694.4_Silent_p.F129F|GPR56_ENST00000388812.4_Silent_p.F299F|GPR56_ENST00000568908.1_Silent_p.F299F|GPR56_ENST00000379696.3_Silent_p.F299F|GPR56_ENST00000567835.1_Silent_p.F299F|GPR56_ENST00000456916.1_Silent_p.F299F|GPR56_ENST00000562558.1_Silent_p.F299F|GPR56_ENST00000538815.1_Silent_p.F299F|GPR56_ENST00000388813.5_Silent_p.F299F			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	299					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AAGCCCTGTTCCAGGTATGGG	0.582000													5	41					0	0	0.001168	0	0
MACF1	23499	broad.mit.edu	37	1	39889739	39889739	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:39889739G>A	ENST00000564288.1	+	61	16966	c.16189G>A	c.(16189-16191)Gac>Aac	p.D5397N	MACF1_ENST00000372915.3_Missense_Mutation_p.D5402N|MACF1_ENST00000317713.7_Missense_Mutation_p.D3335N|MACF1_ENST00000361689.2_Missense_Mutation_p.D3335N|MACF1_ENST00000539005.1_Missense_Mutation_p.D3314N|MACF1_ENST00000567887.1_Missense_Mutation_p.D5434N|MACF1_ENST00000545844.1_Missense_Mutation_p.D3335N|MACF1_ENST00000289893.4_Missense_Mutation_p.D3837N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5402					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCCACAGTAGACATGCTTCA	0.448000													5	64					0	0	0.001168	0	0
AKT2	208	broad.mit.edu	37	19	40745969	40745969	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:40745969T>C	ENST00000392038.2	-	7	920	c.622A>G	c.(622-624)Agg>Ggg	p.R208G	AKT2_ENST00000579047.1_Missense_Mutation_p.R146G|AKT2_ENST00000424901.1_Missense_Mutation_p.R208G|AKT2_ENST00000311278.6_Missense_Mutation_p.R208G	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	208	Protein kinase.		R -> K (in dbSNP:rs35817154).		insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AACGGGTGCCTGGTGTTCTGG	0.602000			A		"""ovarian, pancreatic """								4	236					0	0	0.001168	0	0
CBY1	25776	broad.mit.edu	37	22	39069240	39069240	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr22:39069240G>A	ENST00000216029.3	+	5	514	c.380G>A	c.(379-381)tGa>tAa	p.*127*	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	0					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AAGAGAAAATGAAGACCCCAG	0.458000													8	38					0	0	0.004482	0	0
ATXN1	6310	broad.mit.edu	37	6	16327156	16327156	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:16327156G>A	ENST00000244769.4	-	8	2322	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	ATXN1_ENST00000436367.1_Silent_p.I462I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	462					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TCAGGTAGCCGATGACAGGGG	0.657000													21	154					0	0	0.008871	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820418	179820418	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:179820418C>T	ENST00000367612.3	-	4	502	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	39						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						ATCTCAGCTTCTTCAGCATTA	0.413000													8	85					0	0	0.003080	0	0
PLK4	10733	broad.mit.edu	37	4	128802317	128802317	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:128802317G>C	ENST00000270861.5	+	1	302	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	PLK4_ENST00000515069.1_Missense_Mutation_p.E10Q|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000513090.1_Missense_Mutation_p.E10Q|PLK4_ENST00000507249.1_Missense_Mutation_p.E10Q	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	10					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GGAGAAGATCGAGGTGAAAAG	0.607000													4	41					0	0	0.000248	0	0
ELF3	1999	broad.mit.edu	37	1	201980376	201980376	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:201980376G>C	ENST00000359651.3	+	1	3304	c.112G>C	c.(112-114)Gat>Cat	p.D38H	ELF3_ENST00000367284.5_Missense_Mutation_p.D38H|ELF3_ENST00000367283.3_Missense_Mutation_p.D38H|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	38					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTTTGGGGCCGATGACTTGGT	0.572000													8	90					0	0	0.003080	0	0
ASXL3	80816	broad.mit.edu	37	18	31319901	31319901	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr18:31319901G>A	ENST00000269197.5	+	11	2533	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGTTGACACTGAGAAGCCCTA	0.393000													6	36					0	0	0.001984	0	0
OTP	23440	broad.mit.edu	37	5	76932712	76932712	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:76932712G>C	ENST00000306422.3	-	2	1519	c.381C>G	c.(379-381)caC>caG	p.H127Q	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		TGTCGGGGTAGTGAGTCTTGG	0.622000													15	123					0	0	0.003163	0	0
MTRR	4552	broad.mit.edu	37	5	7878244	7878244	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:7878244G>C	ENST00000264668.2	+	5	700	c.670G>C	c.(670-672)Gat>Cat	p.D224H	MTRR_ENST00000440940.2_Missense_Mutation_p.D197H|MTRR_ENST00000341013.6_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	224	Hinge.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCTGAGATTCGATGATTCAGG	0.468000													13	106					0	0	0.002450	0	0
CKAP5	9793	broad.mit.edu	37	11	46819519	46819519	+	Splice_Site	SNP	T	T	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:46819519T>C	ENST00000529230.1	-	11	1220	c.1173_splice	c.e11-1	p.T392_splice	CKAP5_ENST00000532321.1_5'UTR|CKAP5_ENST00000354558.3_Splice_Site_p.T392_splice|CKAP5_ENST00000312055.5_Splice_Site_p.T392_splice|CKAP5_ENST00000415402.1_Splice_Site_p.T392_splice			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	392					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGTAGTGTGGTCTTTAGAAAG	0.303000													11	63					0	0	0.001368	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755330	140755330	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:140755330C>T	ENST00000517434.1	+	1	1680	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.P560P(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCGCCCGAGATCCTGT	0.657000													29	176					0	0	0.008361	0	0
CDH22	64405	broad.mit.edu	37	20	44869617	44869617	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr20:44869617C>T	ENST00000372262.3	-	2	935	c.535G>A	c.(535-537)Gag>Aag	p.E179K	CDH22_ENST00000537909.1_Missense_Mutation_p.E179K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	179	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGTGAGAGCTCGGCCACGCTG	0.622000													4	37					0	0	0.000248	0	0
DNAH3	55567	broad.mit.edu	37	16	20975656	20975656	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:20975656C>T	ENST00000261383.3	-	53	9549	c.9550G>A	c.(9550-9552)Gaa>Aaa	p.E3184K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3184	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACGGCAACTTCTGGGAGGTAA	0.478000													8	80					0	0	0.003080	0	0
TMEM67	91147	broad.mit.edu	37	8	94767363	94767363	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:94767363G>A	ENST00000453321.3	+	1	279	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	74					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CAAGATGCCCGAGGTAAGACG	0.552000													5	121					0	0	0.001168	0	0
NINL	22981	broad.mit.edu	37	20	25459684	25459684	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr20:25459684G>A	ENST00000278886.6	-	16	2149	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	NINL_ENST00000422516.1_Silent_p.G692G	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	692					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTCCTGCAGGCCCCAGATGA	0.692000													7	64					0	0	0.004482	0	0
RBBP6	5930	broad.mit.edu	37	16	24573246	24573246	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:24573246G>A	ENST00000319715.4	+	10	1485	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	RBBP6_ENST00000348022.2_Silent_p.Q351Q|RBBP6_ENST00000381039.3_Silent_p.Q351Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	351					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)		CACTGATTCAGAGGAACCTAC	0.428000													4	58					0	0	0.000248	0	0
HTR4	3360	broad.mit.edu	37	5	147830796	147830796	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:147830796C>G	ENST00000354217.2	-	7	1279	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.E372D			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0			C -> Y (in dbSNP:rs34826744).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TGGGCAGTTTCTCGAGTTCCT	0.473000													36	322					0	0	0.007835	0	0
C19orf57	79173	broad.mit.edu	37	19	14006310	14006310	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:14006310G>A	ENST00000454313.1	-	3	139	c.81C>T	c.(79-81)gaC>gaT	p.D27D	C19orf57_ENST00000591586.1_Silent_p.D27D|C19orf57_ENST00000586783.1_Silent_p.D27D|C19orf57_ENST00000346736.2_Silent_p.D27D			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	27					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCCCATAGAAGTCTCCTAGCC	0.552000													22	177					0	0	0.002299	0	0
GRM5	2915	broad.mit.edu	37	11	88780521	88780521	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:88780521C>T	ENST00000418177.2	-	2	887	c.520G>A	c.(520-522)Gca>Aca	p.A174T	GRM5_ENST00000305432.5_Missense_Mutation_p.A174T|GRM5_ENST00000455756.2_Missense_Mutation_p.A174T|GRM5_ENST00000305447.4_Missense_Mutation_p.A174T|GRM5_ENST00000393294.3_Missense_Mutation_p.A174T|GRM5_ENST00000393297.1_Missense_Mutation_p.A174T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	174					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATGCTGGTTGCTGAGTAAGCA	0.488000													7	63					0	0	0.001984	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306811	126306811	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:126306811G>C	ENST00000525144.2	-	12	1696	c.1447C>G	c.(1447-1449)Ctg>Gtg	p.L483V	KIRREL3_ENST00000525704.2_Missense_Mutation_p.L483V|KIRREL3_ENST00000529097.2_Missense_Mutation_p.L483V|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	483	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTGATGGTCAGGGTGGAGATG	0.617000													4	33					0	0	0.000248	0	0
ZFHX3	463	broad.mit.edu	37	16	72828079	72828079	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:72828079G>C	ENST00000268489.5	-	9	9174	c.8502C>G	c.(8500-8502)gaC>gaG	p.D2834E	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1920E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2834					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGAGGAACAGTCATCGTTGT	0.468000													31	122					0	0	0.002096	0	0
KLHL30	377007	broad.mit.edu	37	2	239054455	239054455	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:239054455G>C	ENST00000409223.1	+	5	1239	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q	KLHL30_ENST00000305959.4_Missense_Mutation_p.E360Q			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	378										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTCAATGGGGAGATCTACGT	0.662000													3	22					0	0	0.004672	0	0
HOXB6	3216	broad.mit.edu	37	17	46674022	46674022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr17:46674022C>A	ENST00000484302.2	-	3	1050	c.428G>T	c.(427-429)gGg>gTg	p.G143V	HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.G143V|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000477144.1_RNA			P17509	HXB6_HUMAN	homeobox B6	143					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCCGCTGGGCCCAAAGGAGGA	0.652000													8	80					0.000157383	0.000224833	0.003080	1	0
RP11-50E11.3	0	broad.mit.edu	37	10	52389558	52389558	+	RNA	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr10:52389558G>C	ENST00000443374.1	+	0	251																											AACTGTCTCAGATGGACTATC	0.463000													8	51					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179462356	179462356	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:179462356C>G	ENST00000589042.1	-	294	57677	c.57453G>C	c.(57451-57453)aaG>aaC	p.K19151N	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K17510N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10278N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K10211N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K10086N|TTN_ENST00000342992.6_Missense_Mutation_p.K16583N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17510	Ig-like 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGCAGTTCTTGATGACCA	0.438000													7	73					0	0	0.003080	0	0
OR4C15	81309	broad.mit.edu	37	11	55322305	55322305	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:55322305C>A	ENST00000314644.2	+	1	523	c.523C>A	c.(523-525)Cgt>Agt	p.R175S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507000										HNSCC(20;0.049)			21	94					1.50039e-11	2.30025e-11	0.001882	1	0
NARFL	64428	broad.mit.edu	37	16	784253	784253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:784253G>C	ENST00000301694.5	-	5	547	c.536C>G	c.(535-537)tCa>tGa	p.S179*	HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000251588.2_Silent_p.V223V|NARFL_ENST00000540986.1_Silent_p.V121V|NARFL_ENST00000568545.1_Silent_p.V121V			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	0					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AGAAGTCCTTGACCAGGGAGC	0.642000													7	68					0	0	0.001984	0	0
LEF1	51176	broad.mit.edu	37	4	109084728	109084728	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:109084728C>T	ENST00000379951.2	-	3	1598	c.410G>A	c.(409-411)aGa>aAa	p.R137K	LEF1_ENST00000510624.1_Missense_Mutation_p.R69K|LEF1_ENST00000265165.1_Missense_Mutation_p.R137K|LEF1_ENST00000438313.2_Missense_Mutation_p.R137K|LEF1_ENST00000512172.1_Missense_Mutation_p.R69K	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	137	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ACTTACTGTTCTCGGGATGGG	0.383000													8	92					0	0	0.004482	0	0
IL20RA	53832	broad.mit.edu	37	6	137322794	137322794	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:137322794G>A	ENST00000367748.1	-	6	1816	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	IL20RA_ENST00000541547.1_Silent_p.L472L|IL20RA_ENST00000316649.5_Silent_p.L521L			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	521						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GCTCCTCATAGAGTCTAGATA	0.527000													11	121					0	0	0.000978	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27159094	27159094	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:27159094G>A	ENST00000374142.3	+	2	587	c.492G>A	c.(490-492)caG>caA	p.Q164Q		NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	164						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TGGAGAAACAGATCGGTGAGG	0.557000													7	54					0	0	0.001984	0	0
LMO7	4008	broad.mit.edu	37	13	76395416	76395416	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr13:76395416G>C	ENST00000357063.3	+	15	3727	c.2467G>C	c.(2467-2469)Gaa>Caa	p.E823Q	LMO7_ENST00000341547.4_Missense_Mutation_p.E489Q|LMO7_ENST00000377534.3_Missense_Mutation_p.E823Q|LMO7_ENST00000526202.1_Missense_Mutation_p.E388Q|LMO7_ENST00000465261.2_Missense_Mutation_p.E538Q|LMO7_ENST00000321797.8_Missense_Mutation_p.E538Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	823						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GACTGTGTCAGAAGCAAGTTA	0.428000													6	50					0	0	0.001168	0	0
AHNAK	79026	broad.mit.edu	37	11	62289822	62289822	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:62289822G>C	ENST00000378024.4	-	5	12341	c.12067C>G	c.(12067-12069)Ctg>Gtg	p.L4023V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4023					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTAGGCAGAGAAACATCC	0.493000													35	238					0	0	0.002836	0	0
OR2V2	285659	broad.mit.edu	37	5	180582116	180582116	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:180582116C>T	ENST00000328275.1	+	1	174	c.174C>T	c.(172-174)acC>acT	p.T58T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTTCACACCCCCATGTACT	0.537000													41	167					0	0	0.008740	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32497185	32497185	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:32497185G>C	ENST00000327300.7	+	3	735	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	KHDRBS1_ENST00000492989.1_Intron|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	190	KH.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTGCAGGAAGAGACTGGTGC	0.413000													8	97					0	0	0.003080	0	0
C2orf43	60526	broad.mit.edu	37	2	20939904	20939904	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:20939904C>T	ENST00000237822.3	-	5	609	c.530G>A	c.(529-531)aGa>aAa	p.R177K	C2orf43_ENST00000381090.3_Missense_Mutation_p.R177K|C2orf43_ENST00000403006.2_Missense_Mutation_p.R47K|C2orf43_ENST00000541941.1_Missense_Mutation_p.R47K|C2orf43_ENST00000435420.2_Missense_Mutation_p.R129K|C2orf43_ENST00000440866.2_Intron	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	177										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGCAATTCTGCCATTGGG	0.403000													9	54					0	0	0.006214	0	0
TMEM26	219623	broad.mit.edu	37	10	63212759	63212759	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr10:63212759C>G	ENST00000399298.3	-	1	449	c.81G>C	c.(79-81)gtG>gtC	p.V27V	TMEM26_ENST00000399293.1_Silent_p.V27V|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	27						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCACCTCGGTCACTCGCCAGA	0.632000													18	114					0	0	0.008871	0	0
CARD11	84433	broad.mit.edu	37	7	2953041	2953041	+	Missense_Mutation	SNP	G	G	A	rs149857605	byFrequency	TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:2953041G>A	ENST00000396946.4	-	22	3302	c.2899C>T	c.(2899-2901)Cgc>Tgc	p.R967C		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	967					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGAAGGCGCGTACCAGGCTG	0.677000			Mis		DLBCL								6	67					0	0	0.001984	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879250	39879250	+	Missense_Mutation	SNP	A	A	G	rs783822	by1000genomes	TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:39879250A>G	ENST00000530275.1	+	1	3100	c.2905A>G	c.(2905-2907)Acc>Gcc	p.T969A	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	969	Ala-rich.		T -> A (in dbSNP:rs783822).							central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAGCCCACCTCCCCAGC	0.726000													3	18					0	0	0.004672	0	0
AAMP	14	broad.mit.edu	37	2	219129318	219129318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:219129318C>A	ENST00000248450.4	-	11	1413	c.1243G>T	c.(1243-1245)Gtg>Ttg	p.V415L	AAMP_ENST00000420660.1_Missense_Mutation_p.V396L|AAMP_ENST00000444053.1_Missense_Mutation_p.V416L			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	415					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGTCACCACCAGGGAGGCA	0.582000													14	65					9.31168e-06	1.35667e-05	0.001855	1	0
ZNF177	7730	broad.mit.edu	37	19	9491793	9491793	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:9491793G>A	ENST00000434737.2	+	5	842	c.786G>A	c.(784-786)gaG>gaA	p.E262E	ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000589262.1_Silent_p.E262E|ZNF177_ENST00000541595.2_Intron			Q13360	ZN177_HUMAN	zinc finger protein 177	270					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						ATGAACATGAGAAAACTTTCA	0.438000													8	55					0	0	0.003080	0	0
SUSD5	26032	broad.mit.edu	37	3	33194491	33194491	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:33194491C>T	ENST00000309558.3	-	5	2050	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	545					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGGGGCCTTCCTGTCCAAAG	0.582000													4	16					0	0	0.000248	0	0
MYO3B	140469	broad.mit.edu	37	2	171070933	171070933	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:171070933C>G	ENST00000334231.6	+	4	393	c.393C>G	c.(391-393)ctC>ctG	p.L131L	MYO3B_ENST00000409044.3_Silent_p.L122L|MYO3B_ENST00000408978.4_Silent_p.L122L|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	122	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGGTCTACTCAGATGTGGCC	0.493000													6	73					0	0	0.003080	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039405	184039405	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:184039405C>T	ENST00000342981.4	+	9	1447	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L345F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L258F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L352F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L305F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L352F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L345F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L181F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L352F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L149F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L149F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L181F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L305F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L258F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	345					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCAGTCCTCTCCAGGCTCC	0.527000													14	106					0	0	0.002450	0	0
ARSJ	79642	broad.mit.edu	37	4	114899776	114899776	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:114899776G>A	ENST00000315366.7	-	1	1081	c.215C>T	c.(214-216)tCc>tTc	p.S72F	ARSJ_ENST00000541197.1_Missense_Mutation_p.S72F|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	72						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CTGGGAGGTGGAAGTTGTGCT	0.502000													13	62					0	0	0.001855	0	0
ERC1	23085	broad.mit.edu	37	12	1221420	1221420	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:1221420C>G	ENST00000397203.2	+	6	1763	c.1357C>G	c.(1357-1359)Caa>Gaa	p.Q453E	ERC1_ENST00000360905.4_Missense_Mutation_p.Q453E|ERC1_ENST00000589028.1_Missense_Mutation_p.Q453E|ERC1_ENST00000543086.3_Intron|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Missense_Mutation_p.Q453E|ERC1_ENST00000546231.2_Missense_Mutation_p.Q453E			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	453					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAAAGAGGCTCAATGGGAGGA	0.458000													12	124					0	0	0.002450	0	0
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:192516720G>A	ENST00000392452.2	-	2	1251	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311								p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557000													5	32					0	0	0.001168	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089171	1089171	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:1089171G>A	ENST00000264930.5	-	4	458	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	139					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTCAGGCGCAGGAAGAGGATG	0.647000													18	249					0	0	0.008871	0	0
XCR1	2829	broad.mit.edu	37	3	46063107	46063107	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:46063107G>A	ENST00000309285.3	-	2	689	c.333C>T	c.(331-333)atC>atT	p.I111I	XCR1_ENST00000542109.1_Silent_p.I111I	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	111					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGTAGAGGCTGATGGAGAAGA	0.582000													5	12					0	0	0.000602	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905296	1905296	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:1905296C>A	ENST00000518288.1	+	30	4137	c.3974C>A	c.(3973-3975)gCc>gAc	p.A1325D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1263D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1297D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A1326D|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1301D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1326					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCCAAGAAAGCCAAGGCCAGC	0.647000													5	49					0.00198382	0.00281574	0.001984	1	0
PNPLA8	50640	broad.mit.edu	37	7	108155227	108155227	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:108155227C>T	ENST00000426128.2	-	2	834	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.E137K|PNPLA8_ENST00000388728.5_Missense_Mutation_p.E237K|PNPLA8_ENST00000422087.1_Missense_Mutation_p.E237K|PNPLA8_ENST00000436062.1_Missense_Mutation_p.E237K|PNPLA8_ENST00000257694.8_Missense_Mutation_p.E237K	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	237					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTTTTATCTTCAAGTTCTGAT	0.363000													5	34					0	0	0.001168	0	0
PLIN3	10226	broad.mit.edu	37	19	4847846	4847846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:4847846G>A	ENST00000221957.4	-	6	867	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	PLIN3_ENST00000592528.1_Nonsense_Mutation_p.Q219*|PLIN3_ENST00000585479.1_Nonsense_Mutation_p.Q231*	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	231					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTCTGTTCCTGCCGCTGCTGC	0.612000													6	25					0	0	0.004482	0	0
OR4D11	219986	broad.mit.edu	37	11	59271749	59271749	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:59271749G>T	ENST00000313253.1	+	1	701	c.701G>T	c.(700-702)aGg>aTg	p.R234M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGGGCAGGAGGAAAGCCATC	0.557000													25	173					1.36565e-18	2.13079e-18	0.002780	1	0
CCDC57	284001	broad.mit.edu	37	17	80085740	80085740	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr17:80085740C>G	ENST00000392347.1	-	16	2430	c.2394G>C	c.(2392-2394)caG>caC	p.Q798H	CCDC57_ENST00000392346.2_Missense_Mutation_p.Q155H|CCDC57_ENST00000389641.4_Missense_Mutation_p.Q798H	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	798										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTTCTTTCTGCCGAGGTG	0.572000													8	84					0	0	0.000978	0	0
RC3H2	54542	broad.mit.edu	37	9	125642152	125642152	+	Splice_Site	SNP	T	T	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:125642152T>G	ENST00000373670.1	-	7	1694	c.1093_splice	c.e7-1	p.D365_splice	RC3H2_ENST00000373665.2_Splice_Site_p.D365_splice|RC3H2_ENST00000335387.5_Splice_Site_p.D365_splice|RC3H2_ENST00000423239.2_Splice_Site_p.D365_splice|RC3H2_ENST00000357244.2_Splice_Site_p.D365_splice			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	365						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGAAACAGCGTCTAAAATAAG	0.398000													4	41					0	0	0.000248	0	0
OR52L1	338751	broad.mit.edu	37	11	6007326	6007326	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:6007326T>A	ENST00000332249.4	-	1	889	c.835A>T	c.(835-837)Act>Tct	p.T279S		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCGGTGAGTGAGGAAGGAG	0.502000													10	59					0	0	0.008291	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834796	74834796	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:74834796C>G	ENST00000370895.1	+	16	1750	c.1715C>G	c.(1714-1716)tCa>tGa	p.S572*	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Nonsense_Mutation_p.S572*|FPGT-TNNI3K_ENST00000370899.3_Nonsense_Mutation_p.S572*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.S471*|TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.S572*			Q59H18	TNI3K_HUMAN		471	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATTATTGGCTCAGGTAACCta	0.333000													3	23					0	0	0.004672	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19670055	19670055	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr21:19670055G>A	ENST00000284885.3	-	19	2290	c.2257C>T	c.(2257-2259)Ccc>Tcc	p.P753S		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	753	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACCCACCTGGGTGTTAGTATT	0.418000													5	40					0	0	0.000602	0	0
IFI16	3428	broad.mit.edu	37	1	158988382	158988382	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:158988382G>A	ENST00000295809.7	+	5	1168	c.913G>A	c.(913-915)Gat>Aat	p.D305N	IFI16_ENST00000430894.2_Missense_Mutation_p.D253N|IFI16_ENST00000368131.4_Missense_Mutation_p.D305N|IFI16_ENST00000340979.6_Missense_Mutation_p.D305N|IFI16_ENST00000448393.2_Missense_Mutation_p.D305N|IFI16_ENST00000359709.3_Missense_Mutation_p.D249N|IFI16_ENST00000368132.3_Missense_Mutation_p.D305N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	305	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCTGAAGATTGATATTCTTCA	0.353000													11	72					0	0	0.001368	0	0
EPHA3	2042	broad.mit.edu	37	3	89499479	89499479	+	Silent	SNP	G	G	C	rs145084709	byFrequency	TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:89499479G>C	ENST00000336596.2	+	15	2874	c.2649G>C	c.(2647-2649)cgG>cgC	p.R883R	EPHA3_ENST00000494014.1_Silent_p.R883R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	883						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGCTTATCCGGAATCCCGGCA	0.468000										TSP Lung(6;0.00050)			11	68					0	0	0.001368	0	0
VPS33A	65082	broad.mit.edu	37	12	122729173	122729173	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:122729173G>T	ENST00000267199.4	-	7	1024	c.912C>A	c.(910-912)ttC>ttA	p.F304L	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.F265L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	304					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		CAACTGCGTTGAAGTTCTTAT	0.507000													16	64					1.3612e-06	2.0166e-06	0.003163	1	0
RYR2	6262	broad.mit.edu	37	1	237777351	237777351	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:237777351C>T	ENST00000366574.2	+	37	5240	c.4923C>T	c.(4921-4923)atC>atT	p.I1641I	RYR2_ENST00000542537.1_Silent_p.I1625I|RYR2_ENST00000360064.6_Silent_p.I1639I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1641	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTTGACATCTTAGAGTTGA	0.438000													5	49					0	0	0.000602	0	0
CDYL	9425	broad.mit.edu	37	6	4892238	4892238	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:4892238G>T	ENST00000328908.5	+	4	609	c.478G>T	c.(478-480)Gaa>Taa	p.E160*	CDYL_ENST00000397588.3_Nonsense_Mutation_p.E106*|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	160					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GAAAGACCACGAATCCAAAAA	0.502000													16	95					6.72482e-11	1.0274e-10	0.003163	1	0
APOA4	337	broad.mit.edu	37	11	116693391	116693391	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:116693391G>A	ENST00000357780.3	-	2	274	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCTGGGTGAGTTCAGATTTC	0.532000													28	287					0	0	0.008361	0	0
PRPF3	9129	broad.mit.edu	37	1	150316917	150316917	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:150316917G>A	ENST00000324862.6	+	12	1699	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	PRPF3_ENST00000543398.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.E463K|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	512					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGAGCGCATGAAGAGGCCAA	0.483000													8	107					0	0	0.006214	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348012	38348012	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:38348012G>C	ENST00000273173.4	+	1	586	c.495G>C	c.(493-495)aaG>aaC	p.K165N	SLC22A14_ENST00000448498.1_Missense_Mutation_p.K165N	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	165						integral to plasma membrane	organic cation transmembrane transporter activity	p.K165N(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGACGCTAAGAAGCGATCGC	0.498000													16	90					0	0	0.004990	0	0
ABHD1	84696	broad.mit.edu	37	2	27351351	27351351	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:27351351G>A	ENST00000316470.4	+	2	271	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	53						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCCTGGAGCCACACTG	0.572000													12	106					0	0	0.002450	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957704	73957704	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:73957704G>A	ENST00000358602.4	-	29	5757	c.5641C>T	c.(5641-5643)Ctt>Ttt	p.L1881F	ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1768F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1630F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1881					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTAATGGAAGAGAAACTGGA	0.483000													19	140					0	0	0.007413	0	0
SEPT2	4735	broad.mit.edu	37	2	242265435	242265435	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:242265435G>A	ENST00000391973.2	+	3	565	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	SEPT2_ENST00000401990.1_Missense_Mutation_p.E13K|SEPT2_ENST00000360051.3_Missense_Mutation_p.E13K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E13K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E13K|SEPT2_ENST00000407971.1_5'UTR	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	13					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATAAATCCAGAAACACCTGG	0.348000													4	35					0	0	0.000602	0	0
NOL11	25926	broad.mit.edu	37	17	65734086	65734086	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr17:65734086G>C	ENST00000253247.4	+	13	1642	c.1527G>C	c.(1525-1527)ttG>ttC	p.L509F	NOL11_ENST00000535137.1_Missense_Mutation_p.L327F	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	509						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAATTTTCTTGAGGTAAGTTA	0.328000													5	99					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179477958	179477958	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:179477958C>G	ENST00000589042.1	-	264	49802	c.49578G>C	c.(49576-49578)ttG>ttC	p.L16526F	TTN_ENST00000591111.1_Missense_Mutation_p.L14885F|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L7653F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7586F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L7461F|TTN_ENST00000342992.6_Missense_Mutation_p.L13958F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14885	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTTTCAGCCAACACACGGA	0.348000													4	26					0	0	0.001984	0	0
PRKG2	5593	broad.mit.edu	37	4	82031655	82031655	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:82031655G>C	ENST00000395578.1	-	15	2003	c.1887C>G	c.(1885-1887)ttC>ttG	p.F629L	PRKG2_ENST00000418486.2_Missense_Mutation_p.F600L|PRKG2_ENST00000545647.1_Missense_Mutation_p.F209L|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.F629L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	629	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATCCACACTGAAGTCATGTC	0.438000													14	54					0	0	0.001855	0	0
APCS	325	broad.mit.edu	37	1	159558241	159558241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:159558241C>T	ENST00000255040.2	+	2	512	c.415C>T	c.(415-417)Cga>Tga	p.R139*		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	139	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					AAAGGGTCTGCGACAGGGTTA	0.507000													6	56					0	0	0.001984	0	0
CMPK1	51727	broad.mit.edu	37	1	47838678	47838678	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:47838678G>C	ENST00000371873.5	+	3	519	c.370G>C	c.(370-372)Gat>Cat	p.D124H	CMPK1_ENST00000450808.2_Missense_Mutation_p.D75H	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	92					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	ATTCTTGATTGATGGGTTTCC	0.353000													3	42					0	0	0.004672	0	0
SEMA5A	9037	broad.mit.edu	37	5	9043069	9043069	+	Silent	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:9043069G>C	ENST00000382496.5	-	23	3830	c.3165C>G	c.(3163-3165)ctC>ctG	p.L1055L	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1055					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCTTCCCAGTGAGATGTGGGT	0.338000													7	47					0	0	0.001984	0	0
OR7G1	125962	broad.mit.edu	37	19	9226191	9226191	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:9226191C>T	ENST00000293614.1	-	1	248	c.249G>A	c.(247-249)gtG>gtA	p.V83V	OR7G1_ENST00000541538.1_Silent_p.V83V			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	83			V -> A (in dbSNP:rs6511874).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTTGGATGTTCACTAGGATCT	0.463000													18	160					0	0	0.007413	0	0
COL6A3	1293	broad.mit.edu	37	2	238262013	238262013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:238262013C>G	ENST00000295550.4	-	25	7113	c.6661G>C	c.(6661-6663)Gag>Cag	p.E2221Q	COL6A3_ENST00000353578.4_Missense_Mutation_p.E2015Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2015Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.E1614Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2020Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2021Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2221	Collagen-like 3.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTCTCCCTCAAAGCCCGGC	0.512000													6	49					0	0	0.001984	0	0
SORCS1	114815	broad.mit.edu	37	10	108466321	108466321	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr10:108466321C>G	ENST00000263054.6	-	8	1222	c.1215G>C	c.(1213-1215)ccG>ccC	p.P405P	SORCS1_ENST00000344440.6_Silent_p.P405P	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	405						integral to membrane	neuropeptide receptor activity|protein binding	p.P405P(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGCATATTTCGGAAGCTTCA	0.458000													5	55					0	0	0.001168	0	0
CSMD1	64478	broad.mit.edu	37	8	2965273	2965273	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:2965273C>G	ENST00000520002.1	-	46	7360	c.6805G>C	c.(6805-6807)Gaa>Caa	p.E2269Q	CSMD1_ENST00000400186.3_Missense_Mutation_p.E2269Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2269Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2269Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2268Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2268Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2269	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAAGCATTTCTGCCTGTGGA	0.353000													11	100					0	0	0.007413	0	0
PMS2	5395	broad.mit.edu	37	7	6043687	6043687	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:6043687G>C	ENST00000265849.7	-	3	271	c.166C>G	c.(166-168)Cta>Gta	p.L56V	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.L56V|PMS2_ENST00000382321.4_Missense_Mutation_p.L56V	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	56					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTAAGCTTTAGATCTAGAAAG	0.299000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	60					0	0	0.000978	0	0
HEPN1	641654	broad.mit.edu	37	11	124789818	124789818	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:124789818G>C	ENST00000408930.5	+	1	673	c.172G>C	c.(172-174)Gat>Cat	p.D58H	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	58						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TCACACAGTAGATTACTGCCA	0.493000													7	82					0	0	0.001984	0	0
CPS1	1373	broad.mit.edu	37	2	211507249	211507249	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:211507249C>T	ENST00000233072.5	+	25	3197	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	CPS1_ENST00000451903.2_Missense_Mutation_p.R550C|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.R1007C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1001					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.R1001S(1)|p.R1007S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTCTAGTATCCGCACACTGCG	0.453000													9	66					0	0	0.004482	0	0
SUCO	51430	broad.mit.edu	37	1	172579328	172579328	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:172579328G>C	ENST00000367723.3	+	23	4274	c.4150G>C	c.(4150-4152)Gac>Cac	p.D1384H	SUCO_ENST00000263688.3_Missense_Mutation_p.D1232H	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GAGCCTGCATGACATAATCAA	0.388000													9	35					0	0	0.008291	0	0
STARD13	90627	broad.mit.edu	37	13	33700248	33700248	+	Silent	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr13:33700248C>A	ENST00000336934.5	-	7	2168	c.2052G>T	c.(2050-2052)ctG>ctT	p.L684L	STARD13_ENST00000399365.3_Silent_p.L566L|STARD13_ENST00000255486.4_Silent_p.L676L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	684	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTAGATATCTCAGTGCTTGCT	0.552000													12	84					0.000151284	0.000216825	0.001855	1	0
PGBD1	84547	broad.mit.edu	37	6	28269471	28269471	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:28269471C>G	ENST00000405948.2	+	7	2260	c.1840C>G	c.(1840-1842)Ctt>Gtt	p.L614V	PGBD1_ENST00000259883.3_Missense_Mutation_p.L614V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	614					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CGCTGATGTTCTTTTAGAGAG	0.418000													15	109					0	0	0.004990	0	0
CD1E	913	broad.mit.edu	37	1	158324255	158324255	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:158324255C>A	ENST00000368160.3	+	2	147	c.147C>A	c.(145-147)agC>agA	p.S49R	CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.S49R|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.S49R|CD1E_ENST00000368163.3_Missense_Mutation_p.S49R|CD1E_ENST00000368155.3_Missense_Mutation_p.S49R|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.S47R|CD1E_ENST00000368161.3_Missense_Mutation_p.S49R|CD1E_ENST00000368165.3_Missense_Mutation_p.S49R	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	49					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CCAACCACAGCTGGGCACACA	0.582000													10	106					9.70103e-10	1.46682e-09	0.008291	1	0
VAV3	10451	broad.mit.edu	37	1	108319902	108319902	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:108319902C>G	ENST00000370056.4	-	4	671	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	VAV3_ENST00000371846.4_Missense_Mutation_p.E68Q|VAV3_ENST00000527011.1_Missense_Mutation_p.E133Q|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	133					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TTAATGCTTTCTTCTGTTGGG	0.388000													7	51					0	0	0.004482	0	0
BLZF1	8548	broad.mit.edu	37	1	169347731	169347731	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:169347731A>C	ENST00000367808.3	+	4	1055	c.632A>C	c.(631-633)cAg>cCg	p.Q211P	BLZF1_ENST00000329281.2_Missense_Mutation_p.Q211P			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	211					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATGTCAATACAGTGTGATGTA	0.383000													24	81					0	0	0.003330	0	0
PIK3R3	8503	broad.mit.edu	37	1	46532698	46532698	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:46532698G>A	ENST00000262741.5	-	4	1069	c.380C>T	c.(379-381)cCt>cTt	p.P127L	PIK3R3_ENST00000423209.1_Missense_Mutation_p.P127L|PIK3R3_ENST00000420542.1_Missense_Mutation_p.P127L|PIK3R3_ENST00000372006.1_Missense_Mutation_p.P127L|PIK3R3_ENST00000354242.4_Missense_Mutation_p.P127L|PIK3R3_ENST00000340332.6_Missense_Mutation_p.P91L|PIK3R3_ENST00000540385.1_Missense_Mutation_p.P173L	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	127	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					AAATGTCAGAGGATCAGAAAA	0.398000													14	123					0	0	0.001855	0	0
FYCO1	79443	broad.mit.edu	37	3	46008734	46008734	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:46008734T>C	ENST00000296137.2	-	8	2297	c.2092A>G	c.(2092-2094)Aag>Gag	p.K698E	FYCO1_ENST00000535325.1_Missense_Mutation_p.K698E	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	698					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ATGGCCTCCTTCTCTGCCATC	0.622000													18	150					0	0	0.001523	0	0
OR2A25	392138	broad.mit.edu	37	7	143771395	143771395	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:143771395G>A	ENST00000408898.2	+	1	121	c.83G>A	c.(82-84)gGg>gAg	p.G28E		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTCCTCTTTGGGCTCTTCTCC	0.507000													11	91					0	0	0.008291	0	0
TTC37	9652	broad.mit.edu	37	5	94857809	94857809	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:94857809G>C	ENST00000358746.2	-	19	2258	c.1960C>G	c.(1960-1962)Caa>Gaa	p.Q654E		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	654							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCTGGTATTGAGCTACAGCC	0.358000													7	89					0	0	0.004482	0	0
ATP10D	57205	broad.mit.edu	37	4	47538713	47538713	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:47538713C>G	ENST00000273859.3	+	9	1423	c.1154C>G	c.(1153-1155)cCt>cGt	p.P385R	ATP10D_ENST00000504445.1_Intron	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	385					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTCTTGATTCCTATTTCTCTC	0.313000													6	65					0	0	0.001168	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681747	125681747	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:125681747C>G	ENST00000373656.3	-	2	540	c.467G>C	c.(466-468)aGa>aCa	p.R156T	ZBTB26_ENST00000373654.1_Missense_Mutation_p.R156T	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TGGGGAGCCTCTGGCATCTCC	0.443000													7	86					0	0	0.004482	0	0
CLCN1	1180	broad.mit.edu	37	7	143047716	143047716	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:143047716G>T	ENST00000343257.2	+	22	2651	c.2564G>T	c.(2563-2565)gGg>gTg	p.G855V		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	855	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACCAGCATGGGGAAGCTCAGG	0.582000													19	173					2.37509e-13	3.65399e-13	0.001523	1	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321382	42321382	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr22:42321382C>T	ENST00000291232.3	-	3	588	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	182						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						TATTGTTGCTCAGGGCCGGCC	0.637000													4	22					0	0	0.000248	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31484844	31484844	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:31484844C>T	ENST00000394863.3	+	2	226	c.96C>T	c.(94-96)ctC>ctT	p.L32L	TGFB1I1_ENST00000394858.2_Silent_p.L15L|TGFB1I1_ENST00000567607.1_Silent_p.L15L|TGFB1I1_ENST00000361773.3_Silent_p.L15L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	32	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CGGAGCCTCTCACCCCTCCCC	0.642000													9	59					0	0	0.004482	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859277	149859277	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:149859277G>A	ENST00000331128.3	-	1	189	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	64					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCAGCTCCAGAATTTCCGCG	0.632000													5	67					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179429007	179429007	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:179429007G>A	ENST00000589042.1	-	326	82076	c.81852C>T	c.(81850-81852)gtC>gtT	p.V27284V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V25643V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V18411V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V18344V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.V18219V|TTN_ENST00000342992.6_Silent_p.V24716V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25643	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGATGACATCTTTAT	0.408000													18	152					0	0	0.004990	0	0
KIF4A	24137	broad.mit.edu	37	X	69521845	69521845	+	Silent	SNP	T	T	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chrX:69521845T>C	ENST00000374403.3	+	6	694	c.612T>C	c.(610-612)gcT>gcC	p.A204A	KIF4A_ENST00000374388.3_Silent_p.A204A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	204	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTCCACGGCTATGAACTCCC	0.428000													3	87					0	0	0.004672	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421648	39421648	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr22:39421648C>A	ENST00000216099.7	+	4	984	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.L193M	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	193					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTATGCATCCCTGCACCGCAC	0.522000													6	212					0.00198382	0.00281574	0.001984	1	0
UBXN1	51035	broad.mit.edu	37	11	62445457	62445457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:62445457C>T	ENST00000294119.2	-	5	555	c.424G>A	c.(424-426)Gag>Aag	p.E142K	UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.E142K|UBXN1_ENST00000529640.1_Missense_Mutation_p.E142K	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	142	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	p.E142K(1)		endometrium(5)|lung(12)	17						CGGCGCATCTCATCTTCCTGT	0.577000													7	33					0	0	0.001984	0	0
RPAP1	26015	broad.mit.edu	37	15	41810036	41810036	+	Missense_Mutation	SNP	C	C	T	rs147536655		TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr15:41810036C>T	ENST00000304330.4	-	24	4108	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	RPAP1_ENST00000561603.1_Missense_Mutation_p.A1079T	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1331						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATACTCCTGCGGGCAGCTTT	0.567000													39	266					0	0	0.006999	0	0
OTP	23440	broad.mit.edu	37	5	76932692	76932692	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:76932692C>G	ENST00000306422.3	-	2	1539	c.401G>C	c.(400-402)cGt>cCt	p.R134P	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CAGCTCCTCACGCATAAAGAT	0.612000													8	107					0	0	0.003080	0	0
IL4I1	259307	broad.mit.edu	37	19	50397678	50397678	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:50397678G>A	ENST00000595948.1	-	7	1100	c.480C>T	c.(478-480)ttC>ttT	p.F160F	IL4I1_ENST00000391826.2_Silent_p.F138F|IL4I1_ENST00000341114.3_Silent_p.F160F	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	138						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CGTACTGGGTGAACTTGGTCA	0.627000													12	85					0	0	0.001368	0	0
RSPO2	340419	broad.mit.edu	37	8	109001387	109001387	+	Missense_Mutation	SNP	G	G	C	rs149399382		TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:109001387G>C	ENST00000276659.5	-	3	800	c.180C>G	c.(178-180)ttC>ttG	p.F60L	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	60					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GAAGGAAGAAGAACAACTTCT	0.463000													6	54					0	0	0.001168	0	0
DPP10	57628	broad.mit.edu	37	2	116538488	116538488	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:116538488C>T	ENST00000410059.1	+	16	1880	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	DPP10_ENST00000393147.2_Missense_Mutation_p.S471L|DPP10_ENST00000409163.1_Missense_Mutation_p.S417L|DPP10_ENST00000310323.8_Missense_Mutation_p.S460L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	467					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAATGCATTTCATGTAATTTC	0.323000													10	93					0	0	0.008291	0	0
CLDN17	26285	broad.mit.edu	37	21	31538736	31538736	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr21:31538736T>C	ENST00000286808.3	-	1	235	c.200A>G	c.(199-201)tAt>tGt	p.Y67C		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	67					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CAAGGAGCTATAGAACTTGCA	0.542000													20	88					0	0	0.008871	0	0
PTPRB	5787	broad.mit.edu	37	12	71002895	71002895	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:71002895G>A	ENST00000334414.6	-	4	977	c.933C>T	c.(931-933)ttC>ttT	p.F311F	PTPRB_ENST00000538708.1_Silent_p.F93F|PTPRB_ENST00000261266.5_Silent_p.F93F|PTPRB_ENST00000451516.2_Silent_p.F93F|PTPRB_ENST00000551525.1_Silent_p.F310F|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.F93F|PTPRB_ENST00000550358.1_Silent_p.F311F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	93	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAATAATCCTGAAGTTATAGA	0.502000													7	255					0	0	0.003080	0	0
ADCY8	114	broad.mit.edu	37	8	132052045	132052045	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:132052045G>A	ENST00000286355.5	-	1	2627	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R179C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	179					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCCGATTTGCGCCTTTGGCCC	0.567000										HNSCC(32;0.087)			14	62					0	0	0.004007	0	0
SIM2	6493	broad.mit.edu	37	21	38095368	38095368	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr21:38095368C>G	ENST00000290399.6	+	5	1093	c.480C>G	c.(478-480)ttC>ttG	p.F160L	SIM2_ENST00000430056.3_Missense_Mutation_p.F160L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	160					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AGAGGTCGTTCTTTCTTCGAA	0.547000													11	122					0	0	0.002450	0	0
ARID1B	57492	broad.mit.edu	37	6	157528090	157528090	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:157528090G>T	ENST00000346085.5	+	20	5816	c.5815G>T	c.(5815-5817)Gac>Tac	p.D1939Y	ARID1B_ENST00000350026.5_Missense_Mutation_p.D1926Y|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1979Y|ARID1B_ENST00000275248.4_Missense_Mutation_p.D1921Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1926					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCACTGGCAGGACTCGCTGGC	0.552000													15	139					1.67942e-08	2.51341e-08	0.006122	1	0
KCTD19	146212	broad.mit.edu	37	16	67338468	67338468	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:67338468C>G	ENST00000304372.5	-	3	362	c.307G>C	c.(307-309)Gat>Cat	p.D103H	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	103						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTCAGGTTATCTAGAGTCTGT	0.418000													15	74					0	0	0.003163	0	0
JMJD6	23210	broad.mit.edu	37	17	74721760	74721760	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr17:74721760C>T	ENST00000445478.2	-	2	510	c.307G>A	c.(307-309)Gag>Aag	p.E103K	JMJD6_ENST00000397625.4_Missense_Mutation_p.E103K|JMJD6_ENST00000585429.1_Missense_Mutation_p.E103K	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	103					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCGTTATCCTCACCACACTTG	0.468000													15	139					0	0	0.003163	0	0
ATP5B	506	broad.mit.edu	37	12	57036523	57036523	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:57036523G>A	ENST00000262030.3	-	6	935	c.885C>T	c.(883-885)gaC>gaT	p.D295D	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Silent_p.D295D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	295					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACCTTCTTGGTCTCTGAAGT	0.498000													11	84					0	0	0.008291	0	0
ATP5B	506	broad.mit.edu	37	12	57032983	57032983	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:57032983G>C	ENST00000262030.3	-	9	1446	c.1396C>G	c.(1396-1398)Cag>Gag	p.Q466E	ATP5B_ENST00000552919.1_Missense_Mutation_p.Q455E	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	466					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAATGGCTGAGACAAGAAA	0.498000													15	156					0	0	0.003163	0	0
ZNF556	80032	broad.mit.edu	37	19	2876147	2876147	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:2876147G>A	ENST00000586426.1	+	3	274	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	ZNF556_ENST00000307635.2_Missense_Mutation_p.E63K			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTTCTGGAGAAAAATTATC	0.373000													12	169					0	0	0.001368	0	0
ACIN1	22985	broad.mit.edu	37	14	23532787	23532787	+	Splice_Site	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr14:23532787C>G	ENST00000262710.1	-	13	3097		c.e13-1		ACIN1_ENST00000397341.3_Splice_Site|ACIN1_ENST00000338631.6_Splice_Site|ACIN1_ENST00000357481.2_Splice_Site|ACIN1_ENST00000555053.1_Splice_Site|ACIN1_ENST00000605057.1_Splice_Site|ACIN1_ENST00000557515.1_Splice_Site|ACIN1_ENST00000457657.1_Splice_Site	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1						apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CAGGTACTACCTATCAAGGTG	0.502000													9	79					0	0	0.004482	0	0
GAPT	202309	broad.mit.edu	37	5	57790482	57790482	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:57790482G>A	ENST00000396776.2	+	3	581	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	GAPT_ENST00000318469.2_Missense_Mutation_p.R40Q	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	40					B cell activation	integral to membrane|plasma membrane		p.R40Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GTTGCCACACGATTTACCTTA	0.433000													10	58					0	0	0.008291	0	0
TLR7	51284	broad.mit.edu	37	X	12904782	12904782	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chrX:12904782G>C	ENST00000380659.3	+	3	1294	c.1155G>C	c.(1153-1155)ttG>ttC	p.L385F		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	385					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTAAAGAGTTGAAAAGCTTTA	0.348000													9	128					0	0	0.008291	0	0
OR51S1	119692	broad.mit.edu	37	11	4869844	4869844	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:4869844C>T	ENST00000322101.2	-	1	670	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCCAAGCTTCTGGGCAGGCC	0.542000													10	99					0	0	0.008291	0	0
FAM71A	149647	broad.mit.edu	37	1	212799595	212799595	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:212799595C>T	ENST00000294829.3	+	1	1807	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	459										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAAAAGTCCTCCAGCAGGTCC	0.552000													6	53					0	0	0.001168	0	0
CLCN2	1181	broad.mit.edu	37	3	184072029	184072029	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:184072029C>G	ENST00000265593.4	-	15	1752	c.1581G>C	c.(1579-1581)caG>caC	p.Q527H	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.Q510H|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q527H|CLCN2_ENST00000434054.2_Missense_Mutation_p.Q483H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	527						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGTGGGCAATCTGGCCTGTGA	0.602000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	35					0	0	0.003080	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608772	84608772	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:84608772G>C	ENST00000344803.2	+	4	3434	c.3387G>C	c.(3385-3387)aaG>aaC	p.K1129N		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CATGGGATAAGAGAAAGAGTT	0.468000													7	62					0	0	0.003080	0	0
THAP4	51078	broad.mit.edu	37	2	242572898	242572898	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:242572898C>T	ENST00000407315.1	-	2	1105	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	225							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGCCCCAGATCCTGGGGGCGT	0.557000													14	112					0	0	0.002450	0	0
LINC00173	100287569	broad.mit.edu	37	12	116972422	116972422	+	RNA	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:116972422C>G	ENST00000480237.1	+	0	693					NR_027345.1																						AATGGAATCTCATTTGCCAAA	0.433000													4	44					0	0	0.000602	0	0
PARP9	83666	broad.mit.edu	37	3	122269548	122269548	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:122269548C>G	ENST00000462315.1	-	6	1502	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.K403N|PARP9_ENST00000471785.1_Missense_Mutation_p.K403N|PARP9_ENST00000360356.2_Missense_Mutation_p.K438N	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	438	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGTTTCCTTCTTTATTTCCA	0.348000													4	33					0	0	0.000248	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892402	2892402	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr18:2892402G>C	ENST00000254528.3	+	4	2436	c.2277G>C	c.(2275-2277)aaG>aaC	p.K759N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	759					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.K759N(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTGGCCTGAAGAATTCAGTCC	0.468000													10	47					0	0	0.008291	0	0
ZNF688	146542	broad.mit.edu	37	16	30582364	30582364	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:30582364C>T	ENST00000223459.6	-	2	1381	c.277G>A	c.(277-279)Gag>Aag	p.E93K	ZNF688_ENST00000567855.1_Missense_Mutation_p.E93K|ZNF688_ENST00000395219.1_Missense_Mutation_p.E79K|ZNF688_ENST00000563707.1_Intron	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCCCCTTCTCAGGATCCTGG	0.592000													5	30					0	0	0.001168	0	0
TRPC4	7223	broad.mit.edu	37	13	38237715	38237715	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr13:38237715A>G	ENST00000379705.3	-	6	2383	c.1526T>C	c.(1525-1527)cTg>cCg	p.L509P	TRPC4_ENST00000379681.3_Missense_Mutation_p.L509P|TRPC4_ENST00000379673.2_Missense_Mutation_p.L509P|TRPC4_ENST00000379679.1_Missense_Mutation_p.L336P|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.L509P|TRPC4_ENST00000358477.2_Missense_Mutation_p.L509P|TRPC4_ENST00000338947.5_Missense_Mutation_p.L336P|TRPC4_ENST00000355779.2_Missense_Mutation_p.L509P|TRPC4_ENST00000426868.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	509					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CATTCTTCCCAGAGATATTTG	0.398000													13	31					0	0	0.001855	0	0
MFSD4	148808	broad.mit.edu	37	1	205553109	205553109	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:205553109G>A	ENST00000367147.4	+	4	810	c.717G>A	c.(715-717)atG>atA	p.M239I	MFSD4_ENST00000539267.1_Missense_Mutation_p.M239I|MFSD4_ENST00000536357.1_Missense_Mutation_p.M152I	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	239					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGTGCTGATGCTGCTGTCCA	0.642000													8	61					0	0	0.006214	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123118004	123118004	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:123118004C>T	ENST00000368440.4	+	3	539	c.362C>T	c.(361-363)tCa>tTa	p.S121L	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_5'UTR	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	121					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CCTGAACTCTCAACAGACACT	0.393000													5	50					0	0	0.001168	0	0
HEXA	3073	broad.mit.edu	37	15	72668262	72668262	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr15:72668262C>G	ENST00000268097.5	-	1	555	c.52G>C	c.(52-54)Gga>Cga	p.G18R	HEXA_ENST00000566304.1_Missense_Mutation_p.G18R|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567213.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.G18R	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	18					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GTCGCCCGTCCTGCGAACGCT	0.627000													14	115					0	0	0.001855	0	0
PIK3C3	5289	broad.mit.edu	37	18	39620662	39620662	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr18:39620662C>T	ENST00000262039.4	+	19	2146	c.2060C>T	c.(2059-2061)tCa>tTa	p.S687L	PIK3C3_ENST00000587402.1_Missense_Mutation_p.S34L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.S34L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.S624L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.S172L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	687	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTATCCAGTCAGTTCCTGTG	0.343000										TSP Lung(28;0.18)			9	66					0	0	0.008291	0	0
ZNF688	146542	broad.mit.edu	37	16	30582410	30582410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:30582410C>T	ENST00000223459.6	-	2	1335	c.231G>A	c.(229-231)tgG>tgA	p.W77*	ZNF688_ENST00000567855.1_Nonsense_Mutation_p.W77*|ZNF688_ENST00000395219.1_Nonsense_Mutation_p.W63*|ZNF688_ENST00000563707.1_Intron	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCTGTTCCATCCAAGAGATGA	0.632000													5	22					0	0	0.001168	0	0
HMCN1	83872	broad.mit.edu	37	1	186086243	186086243	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:186086243C>G	ENST00000271588.4	+	76	11908	c.11679C>G	c.(11677-11679)gtC>gtG	p.V3893V	HMCN1_ENST00000367492.2_Silent_p.V3893V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3893					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTCACTGTCCAAGGTAGAA	0.373000													7	70					0	0	0.003080	0	0
SCN3A	6328	broad.mit.edu	37	2	166011088	166011088	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:166011088C>T	ENST00000360093.3	-	11	1745	c.1254G>A	c.(1252-1254)ttG>ttA	p.L418L	SCN3A_ENST00000409101.3_Silent_p.L418L|SCN3A_ENST00000283254.7_Silent_p.L418L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	418						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAGCCAGGATCAAATTCACCA	0.458000													9	70					0	0	0.006214	0	0
SEC13	6396	broad.mit.edu	37	3	10346800	10346800	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:10346800C>G	ENST00000397117.1	-	7	1174	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q	SEC13_ENST00000350697.3_Missense_Mutation_p.E209Q|SEC13_ENST00000337354.4_Missense_Mutation_p.E212Q|SEC13_ENST00000397109.3_Missense_Mutation_p.E195Q|SEC13_ENST00000383801.2_Missense_Mutation_p.E255Q			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	209					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CTGTGCGCTTCTAGCTTCTGC	0.642000													7	34					0	0	0.001984	0	0
OR2T34	127068	broad.mit.edu	37	1	248737462	248737462	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:248737462G>A	ENST00000328782.2	-	1	618	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCATCTTATAGAGGGAGACGT	0.512000													22	275					0	0	0.004656	0	0
LRBA	987	broad.mit.edu	37	4	151773315	151773315	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:151773315T>C	ENST00000535741.1	-	23	4020	c.3547A>G	c.(3547-3549)Aca>Gca	p.T1183A	LRBA_ENST00000507224.1_Missense_Mutation_p.T1183A|LRBA_ENST00000510413.1_Missense_Mutation_p.T1183A|LRBA_ENST00000357115.3_Missense_Mutation_p.T1183A			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1183						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)					CCTGATGCTGTCATAGTCTGA	0.383000													14	88					0	0	0.002450	0	0
TCHH	7062	broad.mit.edu	37	1	152081957	152081957	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:152081957C>G	ENST00000368804.1	-	2	3735	c.3736G>C	c.(3736-3738)Gag>Cag	p.E1246Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1246					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCATTCTCTCTGCCTTTG	0.512000													7	87					0	0	0.001984	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095793	178095793	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:178095793T>A	ENST00000397062.3	-	5	2092	c.1538A>T	c.(1537-1539)aAt>aTt	p.N513I	NFE2L2_ENST00000446151.2_Missense_Mutation_p.N490I|NFE2L2_ENST00000397063.4_Missense_Mutation_p.N497I|NFE2L2_ENST00000464747.1_Missense_Mutation_p.N497I	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	513					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTTTCTGCAATTCTGAGCAGC	0.343000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			6	74					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238283578	238283578	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:238283578C>G	ENST00000295550.4	-	8	3608	c.3156G>C	c.(3154-3156)caG>caC	p.Q1052H	COL6A3_ENST00000353578.4_Missense_Mutation_p.Q846H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q846H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q645H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q846H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q445H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q851H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q852H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1052	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACCACTCTCTGGACAAACT	0.582000													6	82					0	0	0.001168	0	0
CDR2	1039	broad.mit.edu	37	16	22358615	22358615	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:22358615G>C	ENST00000268383.2	-	5	1343	c.1036C>G	c.(1036-1038)Ctg>Gtg	p.L346V		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	346						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ACTTCGTGCAGAAGGGAGATG	0.567000													8	60					0	0	0.004482	0	0
DNM3	26052	broad.mit.edu	37	1	172011224	172011224	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:172011224C>G	ENST00000358155.4	+	8	1244	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	DNM3_ENST00000367733.2_Silent_p.L356L|DNM3_ENST00000367731.1_Silent_p.L356L|DNM3_ENST00000355305.5_Silent_p.L356L|DNM3_ENST00000520906.1_Silent_p.L356L	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	356					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCTGGAACTCTCAGGTGGTG	0.368000													9	82					0	0	0.006214	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49301449	49301449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr15:49301449G>T	ENST00000559471.1	-	14	2254	c.1991C>A	c.(1990-1992)tCa>tAa	p.S664*	SECISBP2L_ENST00000261847.3_Nonsense_Mutation_p.S619*	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	664										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GGTTATTGTTGAAGATGCCAT	0.383000													10	86					3.86212e-05	5.55337e-05	0.008291	1	0
ZNF518B	85460	broad.mit.edu	37	4	10446410	10446410	+	Missense_Mutation	SNP	C	C	G	rs142752312	byFrequency	TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:10446410C>G	ENST00000326756.3	-	3	1981	c.1543G>C	c.(1543-1545)Gaa>Caa	p.E515Q		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTCCACTTTCAGCAAAACAA	0.408000													14	78					0	0	0.002450	0	0
FGL1	2267	broad.mit.edu	37	8	17739550	17739550	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:17739550C>T	ENST00000398056.2	-	5	1017	c.202G>A	c.(202-204)Gag>Aag	p.E68K	FGL1_ENST00000381841.2_Missense_Mutation_p.E68K|FGL1_ENST00000518650.1_Missense_Mutation_p.E68K|FGL1_ENST00000522444.1_Missense_Mutation_p.E68K|FGL1_ENST00000427924.1_Missense_Mutation_p.E68K|FGL1_ENST00000381840.2_Missense_Mutation_p.E68K|FGL1_ENST00000398054.1_Missense_Mutation_p.E68K			Q08830	FGL1_HUMAN	fibrinogen-like 1	68					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		ACAGTATTCTCATCTCCTTTA	0.448000													9	56					0	0	0.008291	0	0
CDR2	1039	broad.mit.edu	37	16	22358863	22358863	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:22358863G>C	ENST00000268383.2	-	5	1095	c.788C>G	c.(787-789)tCa>tGa	p.S263*		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	263						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TGGATGCTCTGACTGCAACAT	0.562000													5	88					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196737073	196737073	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:196737073G>A	ENST00000312428.6	-	40	6634	c.6534C>T	c.(6532-6534)ttC>ttT	p.F2178F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2178	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CACGGAGGTTGAACAAGTAGT	0.403000													7	79					0	0	0.003080	0	0
TRIM68	55128	broad.mit.edu	37	11	4621894	4621894	+	Missense_Mutation	SNP	C	C	T	rs139399398		TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:4621894C>T	ENST00000300747.5	-	7	1359	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	357	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGTAGTGCCGGCCTGAGGA	0.542000													9	49					0	0	0.004482	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576212	11576212	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:11576212C>G	ENST00000294484.6	+	6	1881	c.1743C>G	c.(1741-1743)ttC>ttG	p.F581L	PTCHD2_ENST00000389575.3_Missense_Mutation_p.F581L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	581	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTAACGTCTTCTCCCAGGTGC	0.622000													8	57					0	0	0.006214	0	0
OR4D6	219983	broad.mit.edu	37	11	59224838	59224838	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:59224838G>A	ENST00000300127.2	+	1	428	c.405G>A	c.(403-405)atG>atA	p.M135I		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATGTGACCATGATGAGGAAAG	0.488000													19	181					0	0	0.008871	0	0
CSMD1	64478	broad.mit.edu	37	8	2965255	2965255	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:2965255C>T	ENST00000520002.1	-	46	7378	c.6823G>A	c.(6823-6825)Gat>Aat	p.D2275N	CSMD1_ENST00000400186.3_Missense_Mutation_p.D2275N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2275N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D2275N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2274N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2274N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2275	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGAAATCATCATCCTCAGTA	0.358000													8	89					0	0	0.001368	0	0
PTPRR	5801	broad.mit.edu	37	12	71139815	71139815	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:71139815C>G	ENST00000283228.2	-	6	1242	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	PTPRR_ENST00000342084.4_Missense_Mutation_p.E152Q|PTPRR_ENST00000440835.2_Missense_Mutation_p.E19Q|PTPRR_ENST00000549308.1_Missense_Mutation_p.E19Q|PTPRR_ENST00000378778.1_Missense_Mutation_p.E58Q	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	264					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E264*(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TGGTTTTTCTCTTTGTCTTGT	0.423000													5	115					0	0	0.001168	0	0
PLCB1	23236	broad.mit.edu	37	20	8639341	8639341	+	Silent	SNP	C	C	T	rs147648227		TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr20:8639341C>T	ENST00000378641.3	+	9	1327	c.852C>T	c.(850-852)ctC>ctT	p.L284L	PLCB1_ENST00000378637.2_Silent_p.L284L|PLCB1_ENST00000338037.6_Silent_p.L284L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	284					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.L284L(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAACAGCCTCGCCAGAAAAG	0.443000													6	61					0	0	0.003080	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221527	10221527	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:10221527G>A	ENST00000428358.1	+	11	1358	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E396K|PPAN_ENST00000556468.1_Missense_Mutation_p.E396K|PPAN_ENST00000393793.1_Missense_Mutation_p.E343K|PPAN_ENST00000253107.7_Missense_Mutation_p.E396K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		396					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGCGGTGGGCGAGGCGCCCAG	0.612000													35	150					0	0	0.004289	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713926	70713926	+	RNA	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr14:70713926G>C	ENST00000530196.1	-	0	592					NR_003951.1																						AAATGTGGCAGAGTGCCTGAT	0.448000													5	49					0	0	0.001168	0	0
OR6C6	283365	broad.mit.edu	37	12	55688558	55688558	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:55688558G>A	ENST00000358433.2	-	1	458	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGGAAATATGATTAAGAATC	0.418000													6	46					0	0	0.001168	0	0
ACOT12	134526	broad.mit.edu	37	5	80626663	80626663	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:80626663G>A	ENST00000307624.3	-	14	1516	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	496	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TAGCATGGATGAGAAATCCGG	0.433000													4	39					0	0	0.000248	0	0
GORASP2	26003	broad.mit.edu	37	2	171818224	171818224	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:171818224C>G	ENST00000234160.4	+	8	1690	c.875C>G	c.(874-876)tCt>tGt	p.S292C	GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Missense_Mutation_p.S304C	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	292	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCCCTCACTTCTGTGCCACCA	0.393000													14	141					0	0	0.002450	0	0
CASC1	55259	broad.mit.edu	37	12	25272230	25272230	+	Silent	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:25272230G>C	ENST00000354189.5	-	12	1454	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Silent_p.L297L|CASC1_ENST00000545133.1_Silent_p.L350L|CASC1_ENST00000395987.3_Silent_p.L415L|CASC1_ENST00000320267.9_Silent_p.L409L|CASC1_ENST00000395990.2_Silent_p.L369L	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	409										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATCCTTCTTTGAGTATCTTTT	0.323000													5	71					0	0	0.000602	0	0
FASLG	356	broad.mit.edu	37	1	172629280	172629280	+	Splice_Site	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:172629280G>C	ENST00000367721.2	+	2	578	c.394_splice	c.e2+1	p.G132_splice	FASLG_ENST00000340030.3_Intron	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	132					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GAAGCAAATAGGTGAGTCTTT	0.358000													3	66					0	0	0.000602	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172245	207172245	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:207172245C>G	ENST00000374423.3	+	5	3379	c.2993C>G	c.(2992-2994)tCa>tGa	p.S998*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	998							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCAGTGGTTCAAAAACAAGT	0.373000													9	77					0	0	0.004482	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049530	69049530	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:69049530A>G	ENST00000295381.3	+	10	1675	c.1256A>G	c.(1255-1257)gAg>gGg	p.E419G	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E113G|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E380G|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E420G|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E413G|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E412G	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	419					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCGTTTCCGGAGGACAGCAGC	0.502000													4	167					0	0	0.000248	0	0
FBXL7	23194	broad.mit.edu	37	5	15937263	15937263	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:15937263G>A	ENST00000504595.1	+	4	1925	c.1444G>A	c.(1444-1446)Gtc>Atc	p.V482I	FBXL7_ENST00000510662.1_Missense_Mutation_p.V435I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V470I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	482					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAAGCGCTGCGTCATCGAGCA	0.542000													6	26					0	0	0.001168	0	0
KDM3B	51780	broad.mit.edu	37	5	137754766	137754766	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:137754766G>A	ENST00000314358.5	+	14	3760	c.3560G>A	c.(3559-3561)aGa>aAa	p.R1187K	KDM3B_ENST00000542866.1_Missense_Mutation_p.R219K|KDM3B_ENST00000394866.1_Missense_Mutation_p.R843K|KDM3B_ENST00000508386.1_3'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1187					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ACTGACATCAGATCTGAAGAG	0.537000													11	71					0	0	0.008291	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798460	160798460	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:160798460C>T	ENST00000283243.7	-	30	4427	c.4221G>A	c.(4219-4221)ctG>ctA	p.L1407L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1407					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAATGACTATCAGTGTCAGTA	0.408000													13	80					0	0	0.002450	0	0
TMEM209	84928	broad.mit.edu	37	7	129843654	129843654	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:129843654A>C	ENST00000397622.2	-	3	295	c.173T>G	c.(172-174)gTg>gGg	p.V58G	TMEM209_ENST00000462753.1_Missense_Mutation_p.V57G|TMEM209_ENST00000473456.1_Missense_Mutation_p.V58G|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.V57G	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	58						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					CCAGTATGTCACATTGTAGTA	0.313000													3	11					0	0	0.000248	0	0
ZNF845	91664	broad.mit.edu	37	19	53855272	53855272	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:53855272C>T	ENST00000458035.1	+	4	1461	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	ZNF845_ENST00000595091.1_Silent_p.F448F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATGAAGCTTTCAGTTTCAAAT	0.403000													7	58					0	0	0.001984	0	0
KDM2B	84678	broad.mit.edu	37	12	121890993	121890993	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:121890993C>T	ENST00000377069.4	-	13	2202	c.1796G>A	c.(1795-1797)tGc>tAc	p.C599Y	KDM2B_ENST00000536437.1_Missense_Mutation_p.C513Y|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377071.4_Missense_Mutation_p.C630Y	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	630					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						CATGTCCTTGCAGAAGTGGCA	0.697000													4	40					0	0	0.000248	0	0
TRO	7216	broad.mit.edu	37	X	54955044	54955044	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chrX:54955044G>A	ENST00000173898.7	+	12	1999	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K	TRO_ENST00000375041.2_Silent_p.K232K|TRO_ENST00000399736.1_Silent_p.K232K|TRO_ENST00000420798.2_Silent_p.K160K|TRO_ENST00000319167.8_Silent_p.K629K|TRO_ENST00000375022.4_Silent_p.K629K	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	629	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGGTGCAGAAGAAAGACCCCA	0.478000													9	102					0	0	0.004482	0	0
MANBA	4126	broad.mit.edu	37	4	103644166	103644166	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:103644166C>T	ENST00000226578.4	-	4	510	c.411G>A	c.(409-411)gtG>gtA	p.V137V	MANBA_ENST00000505239.1_Intron	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	137					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CAATGGAGTTCACGTCCCTGA	0.473000													5	49					0	0	0.000602	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76165798	76165798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr15:76165798G>A	ENST00000267938.4	+	5	859	c.477G>A	c.(475-477)atG>atA	p.M159I	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.M159I|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.M143I|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.M124I	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	159	Glu-rich.				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						ACTATGAGATGAAGGAAGAAG	0.333000													4	28					0	0	0.000248	0	0
PCGF2	7703	broad.mit.edu	37	17	36894636	36894636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr17:36894636G>A	ENST00000579882.1	-	9	865	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	PCGF2_ENST00000581345.1_Silent_p.R182R|PCGF2_ENST00000580830.1_Silent_p.R182R|PCGF2_ENST00000360797.2_Silent_p.R182R|PCGF2_ENST00000585100.1_Nonsense_Mutation_p.Q184*|PCGF2_ENST00000578109.1_Nonsense_Mutation_p.Q130*			P35227	PCGF2_HUMAN	polycomb group ring finger 2	301					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CCATCTTGTTGCGGAGAAACT	0.572000													10	42					0	0	0.008291	0	0
TRHDE	29953	broad.mit.edu	37	12	73046174	73046174	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:73046174C>G	ENST00000261180.4	+	16	2709	c.2613C>G	c.(2611-2613)ttC>ttG	p.F871L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	871					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTGGGAATTCATATGGATGA	0.388000													6	83					0	0	0.001168	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956268	18956268	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:18956268G>C	ENST00000302797.3	-	1	288	c.64C>G	c.(64-66)Ctt>Gtt	p.L22V	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	22					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTGTAGCAAAGAGTCTCCTCA	0.542000													21	572					0	0	0.002780	0	0
GJA9	81025	broad.mit.edu	37	1	39340485	39340485	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:39340485G>C	ENST00000454994.2	-	2	1562	c.1286C>G	c.(1285-1287)tCt>tGt	p.S429C	GJA9_ENST00000357771.3_Missense_Mutation_p.S429C|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S429C|RP5-864K19.4_ENST00000456813.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	429					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATGTTCTGTAGAGGAACCCCA	0.512000													3	63					0	0	0.004672	0	0
C19orf45	374877	broad.mit.edu	37	19	7570435	7570435	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:7570435G>C	ENST00000361664.2	+	6	1069	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	310										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCAGACTCCGGAGTCGCACAT	0.627000													12	68					0	0	0.000978	0	0
TMEM179B	374395	broad.mit.edu	37	11	62556550	62556550	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:62556550C>T	ENST00000333449.4	+	2	157	c.152C>T	c.(151-153)tCc>tTc	p.S51F	TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_Missense_Mutation_p.S51F	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	51						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						AATGGCTCCTCCCTGGCCTTA	0.567000													13	116					0	0	0.001368	0	0
GPR31	2853	broad.mit.edu	37	6	167570790	167570790	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:167570790C>G	ENST00000366834.1	-	1	1027	c.530G>C	c.(529-531)tGg>tCg	p.W177S		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	177						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TGCTTCCTGCCAGATGATGCT	0.592000													17	149					0	0	0.004007	0	0
NLRC4	58484	broad.mit.edu	37	2	32475393	32475393	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:32475393G>C	ENST00000404025.2	-	5	2028	c.1540C>G	c.(1540-1542)Caa>Gaa	p.Q514E	NLRC4_ENST00000402280.1_Missense_Mutation_p.Q514E|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q514E|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	514					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGCCGTGTTGATACACTGCT	0.507000													8	38					0	0	0.004482	0	0
ARID1B	57492	broad.mit.edu	37	6	157528089	157528089	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:157528089G>T	ENST00000346085.5	+	20	5815	c.5814G>T	c.(5812-5814)caG>caT	p.Q1938H	ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1925H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1978H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1920H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1925					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCACTGGCAGGACTCGCTGG	0.552000													16	137					1.33834e-09	2.01667e-09	0.007413	1	0
MAPKAPK5	8550	broad.mit.edu	37	12	112323825	112323825	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:112323825G>T	ENST00000550735.2	+	10	1710	c.954G>T	c.(952-954)caG>caT	p.Q318H	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.Q318H	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	318					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CTTCTGCTCAGCTGATGATGG	0.527000													11	93					1.58986e-06	2.34745e-06	0.008291	1	0
FOLH1	2346	broad.mit.edu	37	11	49207299	49207299	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:49207299C>A	ENST00000340334.7	-	7	1071	c.703G>T	c.(703-705)Gga>Tga	p.G235*	FOLH1_ENST00000356696.3_Nonsense_Mutation_p.G250*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.G250*|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.G235*	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	250					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACACCACCTCCAGGAAGATTC	0.512000													10	53					1.76689e-08	2.63537e-08	0.006214	1	0
BRINP2	57795	broad.mit.edu	37	1	177245507	177245507	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:177245507G>C	ENST00000361539.4	+	6	1261	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		317						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCAGGCCATGGAGGACAGCCT	0.577000													3	40					0	0	0.000248	0	0
BEST3	144453	broad.mit.edu	37	12	70049076	70049076	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:70049076C>T	ENST00000330891.5	-	10	1844	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	BEST3_ENST00000553096.1_Missense_Mutation_p.E434K|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.E327K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	540						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTGCTGCTCAGTCTTGCTT	0.597000													11	424					0	0	0.001855	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871496	100871496	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chrX:100871496C>G	ENST00000539247.1	-	4	547	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	ARMCX6_ENST00000361910.4_Missense_Mutation_p.E39Q|ARMCX6_ENST00000538627.1_Missense_Mutation_p.E39Q|ARMCX6_ENST00000497931.1_Intron	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	39						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						tccccctcctcctccagcttc	0.542000													6	37					0	0	0.001984	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182332	5182332	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:5182332G>T	ENST00000274181.7	+	4	815	c.677G>T	c.(676-678)tGg>tTg	p.W226L	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.W226L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	226					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAAGGACATGGGAGCTGGCA	0.577000													7	147					2.0095e-06	2.94726e-06	0.001984	1	0
VMA21	203547	broad.mit.edu	37	X	150572114	150572114	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chrX:150572114C>T	ENST00000330374.6	+	2	170	c.65C>T	c.(64-66)tCa>tTa	p.S22L	VMA21_ENST00000370361.1_Missense_Mutation_p.S77L|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	22					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						AATGAAAGCTCATTAGCATCT	0.353000													23	179					0	0	0.002780	0	0
WHSC1	7468	broad.mit.edu	37	4	1962800	1962800	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:1962800C>T	ENST00000382895.3	+	20	3725	c.3294C>T	c.(3292-3294)gaC>gaT	p.D1098D	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.D446D|WHSC1_ENST00000382891.5_Silent_p.D1098D|WHSC1_ENST00000382892.2_Silent_p.D1098D|WHSC1_ENST00000508803.1_Silent_p.D1098D	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1098	SET.				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)		AGCTGATCGACGAGGAGGAGT	0.512000			T	IGH@	MM								19	111					0	0	0.008871	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142970	31142970	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:31142970G>T	ENST00000304166.4	+	14	1455	c.1166G>T	c.(1165-1167)gGc>gTc	p.G389V	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G368V|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G417V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G445V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	389					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGGGGCTGGGCTCCTTCCAG	0.547000													12	61					1.08611e-07	1.61448e-07	0.000978	1	0
DSTN	11034	broad.mit.edu	37	20	17581458	17581458	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr20:17581458G>C	ENST00000246069.6	+	2	425	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q	DSTN_ENST00000543261.1_Missense_Mutation_p.E10Q|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	27	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						CTCCACACCAGAAGAAATCAA	0.383000													8	50					0	0	0.003080	0	0
TDRD7	23424	broad.mit.edu	37	9	100245169	100245169	+	Silent	SNP	T	T	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:100245169T>C	ENST00000355295.4	+	15	2746	c.2451T>C	c.(2449-2451)gtT>gtC	p.V817V	TDRD7_ENST00000422139.2_Silent_p.V743V|TDRD7_ENST00000492428.1_3'UTR|TDRD7_ENST00000540902.1_Silent_p.V137V	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	817					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TCGCACATGTTTATTTATTTA	0.368000													15	69					0	0	0.003163	0	0
ANXA3	306	broad.mit.edu	37	4	79503336	79503336	+	Silent	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:79503336G>T	ENST00000264908.6	+	5	583	c.204G>T	c.(202-204)ctG>ctT	p.L68L	ANXA3_ENST00000512884.1_Silent_p.L29L|ANXA3_ENST00000503570.2_Silent_p.L29L	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	68					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTTAGGAGCTGAAAGATGACT	0.393000													9	52					0.00621372	0.00876293	0.006214	1	0
IGHV7-81	28378	broad.mit.edu	37	14	107282959	107282959	+	RNA	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr14:107282959G>C	ENST00000390639.2	-	0	237																											TCAAGCCCTTGTCCAGGGGCC	0.552000													21	119					0	0	0.001882	0	0
HIP1	3092	broad.mit.edu	37	7	75228554	75228554	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:75228554G>C	ENST00000336926.6	-	2	158	c.132C>G	c.(130-132)atC>atG	p.I44M	HIP1_ENST00000434438.2_Missense_Mutation_p.I44M	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	44	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.I44M(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGCCTTATTGATGCTGACAG	0.507000			T	PDGFRB	CMML								17	168					0	0	0.002299	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147138	26147138	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:26147138C>A	ENST00000331351.5	+	2	1332	c.940C>A	c.(940-942)Ctg>Atg	p.L314M	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	314					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTTTGAGGTGCTGGCCTTCAA	0.527000													26	205					8.24728e-16	1.28226e-15	0.004656	1	0
WNT3A	89780	broad.mit.edu	37	1	228248004	228248004	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:228248004G>A	ENST00000366753.2	+	5	1204	c.1157G>A	c.(1156-1158)tGa>tAa	p.*386*	WNT3A_ENST00000284523.1_3'UTR			P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	0					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				AAGGTTCCATGAAGCGAGTCG	0.657000													13	105					0	0	0.001855	0	0
BEST3	144453	broad.mit.edu	37	12	70065208	70065208	+	Splice_Site	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:70065208C>T	ENST00000330891.5	-	9	1326	c.1100_splice	c.e9+1	p.G367_splice	BEST3_ENST00000553096.1_Splice_Site_p.G261_splice|BEST3_ENST00000331471.4_Splice_Site_p.G367_splice|BEST3_ENST00000476098.1_Splice_Site_p.G154_splice|BEST3_ENST00000488961.1_Splice_Site_p.G154_splice	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	367						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGCACTTACCCCATCTGGAC	0.388000													10	150					0	0	0.001368	0	0
OR7A17	26333	broad.mit.edu	37	19	14992104	14992104	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:14992104C>G	ENST00000327462.2	-	1	160	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GGCTGCAATTCTGGTTCCTCA	0.413000													5	29					0	0	0.001168	0	0
GPR112	139378	broad.mit.edu	37	X	135405147	135405147	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chrX:135405147G>A	ENST00000394143.1	+	5	572	c.281G>A	c.(280-282)gGa>gAa	p.G94E	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.G94E|GPR112_ENST00000287534.4_Missense_Mutation_p.G31E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	94					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGACTTGCAGGAGACCATCAG	0.433000													20	132					0	0	0.001523	0	0
PHOX2B	8929	broad.mit.edu	37	4	41747895	41747895	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:41747895C>T	ENST00000226382.2	-	3	1233	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	292				A -> G (in Ref. 1; BAA11555, 2; AAD26698 and 3; BAA82670).	positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						AGGACGCTGGCGAAGGGACCC	0.677000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				8	69					0	0	0.008291	0	0
GSG1	83445	broad.mit.edu	37	12	13240941	13240941	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:13240941G>A	ENST00000396302.3	-	4	748	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	GSG1_ENST00000351606.6_Missense_Mutation_p.H220Y|GSG1_ENST00000337630.6_Silent_p.F142F|GSG1_ENST00000432710.2_Silent_p.F155F|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000324458.8_Silent_p.F178F|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000537302.1_Intron	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GGAAGCTGATGAATTGAAGTC	0.512000													16	113					0	0	0.006122	0	0
ABRA	137735	broad.mit.edu	37	8	107773358	107773358	+	Silent	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:107773358G>C	ENST00000311955.3	-	2	1107	c.1053C>G	c.(1051-1053)ctC>ctG	p.L351L		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	351					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TGGCACGCATGAGAATGCCCA	0.468000													4	184					0	0	0.000248	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10221479	10221479	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:10221479G>A	ENST00000428358.1	+	11	1310	c.1138G>A	c.(1138-1140)Gat>Aat	p.D380N	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.D380N|PPAN_ENST00000556468.1_Missense_Mutation_p.D380N|PPAN_ENST00000393793.1_Missense_Mutation_p.D327N|PPAN_ENST00000253107.7_Missense_Mutation_p.D380N	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		380					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGAGGACGATGATGAACAGGA	0.612000													34	160					0	0	0.004289	0	0
TLR10	81793	broad.mit.edu	37	4	38776315	38776315	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:38776315C>T	ENST00000308973.4	-	4	1502	c.897G>A	c.(895-897)atG>atA	p.M299I	TLR10_ENST00000506111.1_Missense_Mutation_p.M299I|TLR10_ENST00000508334.1_Missense_Mutation_p.M299I|TLR10_ENST00000361424.2_Missense_Mutation_p.M299I	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	299					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTATAGTTCTCATTACAGTAT	0.343000													5	54					0	0	0.000602	0	0
ELP4	26610	broad.mit.edu	37	11	31784960	31784960	+	Splice_Site	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:31784960G>C	ENST00000395934.2	+	11	1441	c.1432_splice	c.e11-1	p.V478_splice	Z83001.1_ENST00000429821.1_RNA|Z83001.1_ENST00000454509.1_RNA|ELP4_ENST00000379163.5_Splice_Site_p.W383_splice|Z83001.1_ENST00000434742.1_RNA|ELP4_ENST00000350638.5_Intron			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	0					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CTGAGGCAGTGGGTGCAAGAC	0.418000													8	75					0	0	0.003080	0	0
LRP2	4036	broad.mit.edu	37	2	170145598	170145598	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:170145598C>G	ENST00000263816.3	-	9	1265	c.980G>C	c.(979-981)gGa>gCa	p.G327A	LRP2_ENST00000443831.1_Missense_Mutation_p.G327A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	327	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G327V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACGCTCCTCCATACGGCGT	0.483000													13	105					0	0	0.001855	0	0
ZP4	57829	broad.mit.edu	37	1	238046082	238046082	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:238046082C>T	ENST00000366570.4	-	11	1613	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	485					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAGTAGAATCATGGGGCCTT	0.393000													13	65					0	0	0.003163	0	0
TRHR	7201	broad.mit.edu	37	8	110131366	110131366	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr8:110131366C>T	ENST00000518632.1	+	3	1230	c.879C>T	c.(877-879)tcC>tcT	p.S293S	TRHR_ENST00000311762.2_Silent_p.S293S			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	293						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CATTTCTCTCCAGTCCTTTCC	0.423000													24	247					0	0	0.003954	0	0
ARL2BP	23568	broad.mit.edu	37	16	57286145	57286145	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:57286145C>T	ENST00000219204.3	+	6	728	c.458C>T	c.(457-459)tCt>tTt	p.S153F	RP11-407G23.3_ENST00000564376.1_RNA|ARL2BP_ENST00000562023.1_Missense_Mutation_p.S113F	NM_012106.3	NP_036238.1	Q9Y2Y0	AR2BP_HUMAN	ADP-ribosylation factor-like 2 binding protein	153					maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						AAATCATCTTCTCTGCCAGCT	0.478000													4	68					0	0	0.000602	0	0
CABIN1	23523	broad.mit.edu	37	22	24509680	24509680	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr22:24509680C>T	ENST00000398319.2	+	27	4650	c.4265C>T	c.(4264-4266)aCg>aTg	p.T1422M	CABIN1_ENST00000405822.2_Missense_Mutation_p.T1343M|CABIN1_ENST00000263119.5_Missense_Mutation_p.T1422M	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1422					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCAGGAGCGACGGGTAAAGAT	0.517000													5	111					0	0	0.000602	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32632765	32632765	+	Missense_Mutation	SNP	G	G	C	rs41556424		TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:32632765G>C	ENST00000399084.1	-	3	367	c.189C>G	c.(187-189)atC>atG	p.I63M	HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.I63M|HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.I63M|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.I63M|HLA-DQB1_ENST00000399082.3_Intron			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	63	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCGGTTATAGATGTATCTGG	0.617000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				19	61					0	0	0.007413	0	0
ITPR3	3710	broad.mit.edu	37	6	33654857	33654857	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:33654857C>G	ENST00000374316.5	+	45	7111	c.6051C>G	c.(6049-6051)ctC>ctG	p.L2017L	ITPR3_ENST00000605930.1_Silent_p.L2017L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2017					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGCGAATCCTCATCAGCCTGC	0.667000													15	68					0	0	0.003163	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44611964	44611964	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr3:44611964C>G	ENST00000273320.3	+	6	1791	c.1362C>G	c.(1360-1362)ctC>ctG	p.L454L	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.L454L	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GCTCCCATCTCATTCAACACC	0.473000													9	40					0	0	0.008291	0	0
GCNT1	2650	broad.mit.edu	37	9	79118113	79118113	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:79118113C>G	ENST00000442371.1	+	3	1755	c.816C>G	c.(814-816)gtC>gtG	p.V272V	GCNT1_ENST00000536223.1_Silent_p.V272V|GCNT1_ENST00000376730.4_Silent_p.V272V|GCNT1_ENST00000444201.2_Silent_p.V272V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	272	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CAGGGACTGTCAAAATGCTTC	0.458000													9	91					0	0	0.008291	0	0
MROH8	140699	broad.mit.edu	37	20	35752146	35752146	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr20:35752146G>A	ENST00000400441.3	-	15	1841	c.1842C>T	c.(1840-1842)ttC>ttT	p.F614F	MROH8_ENST00000217333.8_Silent_p.F443F|MROH8_ENST00000441008.2_Silent_p.F600F					maestro heat-like repeat family member 8																		GAAAGAGTCGGAACGTAGCTG	0.498000													8	56					0	0	0.003080	0	0
CNOT6L	246175	broad.mit.edu	37	4	78663394	78663394	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:78663394C>A	ENST00000504123.1	-	8	903	c.773G>T	c.(772-774)gGa>gTa	p.G258V	CNOT6L_ENST00000264903.4_Missense_Mutation_p.G258V|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	258					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TCCATCATATCCACGCTCCTT	0.393000													4	23					1.23904e-05	1.79927e-05	0.000602	1	0
TBC1D1	23216	broad.mit.edu	37	4	38016340	38016340	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:38016340G>A	ENST00000261439.4	+	3	983	c.628G>A	c.(628-630)Gag>Aag	p.E210K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.E210K	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	210						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCGGGGGTCCGAGAGCCCCCG	0.711000													8	47					0	0	0.003080	0	0
ASPN	54829	broad.mit.edu	37	9	95222019	95222019	+	Silent	SNP	G	G	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:95222019G>A	ENST00000375544.3	-	7	1083	c.840C>T	c.(838-840)atC>atT	p.I280I	ASPN_ENST00000375543.1_Intron|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	280					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TCCCATTTTCGATATCTGTGA	0.358000													4	20					0	0	0.000248	0	0
CACNA1C	775	broad.mit.edu	37	12	2706430	2706430	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:2706430T>G	ENST00000399655.1	+	21	3093	c.2828T>G	c.(2827-2829)aTt>aGt	p.I943S	CACNA1C_ENST00000399634.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.I943S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.I943S|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399595.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.I943S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399649.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.I943S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.I943S|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.I968S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	943					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTTACCACCATTTTCACCATT	0.493000													15	150					0	0	0.007413	0	0
GRID2	2895	broad.mit.edu	37	4	94006245	94006245	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr4:94006245C>T	ENST00000282020.4	+	3	602	c.344C>T	c.(343-345)cCc>cTc	p.P115L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	115					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATGCATATCCCCCACCTCTTC	0.562000													11	60					0	0	0.008291	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136376	40136376	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:40136376C>T	ENST00000278198.2	-	2	3430	c.1467G>A	c.(1465-1467)gtG>gtA	p.V489V	LRRC4C_ENST00000530763.1_Silent_p.V489V|LRRC4C_ENST00000527150.1_Silent_p.V489V|LRRC4C_ENST00000528697.1_Silent_p.V489V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	489					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGAGGTGGTCACATTGGTGG	0.522000													11	38					0	0	0.008291	0	0
APLP1	333	broad.mit.edu	37	19	36362525	36362525	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:36362525C>T	ENST00000221891.4	+	5	741	c.549C>T	c.(547-549)tcC>tcT	p.S183S	APLP1_ENST00000586861.1_Silent_p.S177S|APLP1_ENST00000537454.2_Silent_p.S144S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	183					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGCAGCTCCCAGGGCCTCA	0.647000													13	63					0	0	0.002450	0	0
CDH7	1005	broad.mit.edu	37	18	63525118	63525118	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr18:63525118C>T	ENST00000536984.2	+	8	1996	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	CDH7_ENST00000323011.3_Silent_p.I434I|CDH7_ENST00000397968.2_Silent_p.I434I			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	434	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTGGGGTCATCACAACTGCCA	0.388000													9	41					0	0	0.008291	0	0
LRRC7	57554	broad.mit.edu	37	1	70555443	70555443	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:70555443G>C	ENST00000310961.5	+	25	4664	c.4246G>C	c.(4246-4248)Gga>Cga	p.G1416R	LRRC7_ENST00000035383.5_Missense_Mutation_p.G1458R|LRRC7_ENST00000415775.2_Missense_Mutation_p.G742R			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1458						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCCTGGCCTTGGATTTAGTAT	0.289000													5	33					0	0	0.001168	0	0
NAV3	89795	broad.mit.edu	37	12	78444604	78444604	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:78444604C>T	ENST00000397909.2	+	11	2366	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P	NAV3_ENST00000536525.2_Silent_p.P731P|NAV3_ENST00000266692.7_Silent_p.P731P|NAV3_ENST00000228327.6_Silent_p.P731P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	731						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGACCATACCCAACTTGACAA	0.522000										HNSCC(70;0.22)			6	72					0	0	0.001984	0	0
HECW2	57520	broad.mit.edu	37	2	197189815	197189815	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:197189815C>G	ENST00000260983.2	-	6	812	c.630G>C	c.(628-630)aaG>aaC	p.K210N	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	210	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAATTGACATCTTAAGATAAG	0.468000													22	153					0	0	0.001882	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368669	145368669	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:145368669C>T	ENST00000342960.5	+	84	10682	c.10647C>T	c.(10645-10647)gtC>gtT	p.V3549V	NBPF10_ENST00000369339.2_Silent_p.V667V|NBPF10_ENST00000369338.1_Silent_p.V665V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3549										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGATGGGAGTCATATTCCCAC	0.448000													22	466					0	0	0.008361	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802056	185802056	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr2:185802056G>T	ENST00000302277.6	+	4	2527	c.1933G>T	c.(1933-1935)Gct>Tct	p.A645S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	645						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCAGTATTTAGCTGCAGAGCA	0.353000													14	127					2.32078e-09	3.48514e-09	0.003163	1	0
STAP2	55620	broad.mit.edu	37	19	4338667	4338667	+	Silent	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr19:4338667C>T	ENST00000600324.1	-	1	151	c.84G>A	c.(82-84)aaG>aaA	p.K28K	STAP2_ENST00000594605.1_Silent_p.K28K	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	28	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCCCTTCTTCTCTAGAA	0.652000													7	41					0	0	0.001984	0	0
TRPV4	59341	broad.mit.edu	37	12	110232288	110232288	+	Missense_Mutation	SNP	C	C	A	rs143502097	byFrequency	TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:110232288C>A	ENST00000418703.2	-	7	1431	c.1337G>T	c.(1336-1338)cGc>cTc	p.R446L	TRPV4_ENST00000544971.1_Missense_Mutation_p.R339L|TRPV4_ENST00000346520.2_Missense_Mutation_p.R386L|TRPV4_ENST00000537083.1_Missense_Mutation_p.R386L|TRPV4_ENST00000392719.2_Missense_Mutation_p.R399L|TRPV4_ENST00000541794.1_Missense_Mutation_p.R399L|TRPV4_ENST00000261740.2_Missense_Mutation_p.R446L|TRPV4_ENST00000536838.1_Missense_Mutation_p.R412L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	446					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CATCTCGTGGCGGTTCTAAGA	0.647000													11	93					1.61879e-10	2.4646e-10	0.001368	1	0
NUMA1	4926	broad.mit.edu	37	11	71717294	71717294	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:71717294C>G	ENST00000393695.3	-	22	5810	c.5479G>C	c.(5479-5481)Gag>Cag	p.E1827Q	NUMA1_ENST00000351960.6_Missense_Mutation_p.E691Q|NUMA1_ENST00000358965.6_Missense_Mutation_p.E1813Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1827					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGTCTGGCTCTTCCACATCT	0.562000			T	RARA	APL								5	45					0	0	0.000602	0	0
MUC5B	727897	broad.mit.edu	37	11	1275512	1275512	+	Silent	SNP	C	C	G			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:1275512C>G	ENST00000447027.1	+	34	15475	c.15417C>G	c.(15415-15417)ctC>ctG	p.L5139L	MUC5B_ENST00000529681.1_Silent_p.L5136L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5136	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.L5091L(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGCGCCCTCAGCATCCACT	0.622000													4	47					0	0	0.000248	0	0
C16orf62	57020	broad.mit.edu	37	16	19663357	19663357	+	Silent	SNP	C	C	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:19663357C>A	ENST00000438132.3	+	26	2481	c.2433C>A	c.(2431-2433)ctC>ctA	p.L811L	C16orf62_ENST00000543152.1_Silent_p.L471L|C16orf62_ENST00000448695.1_Silent_p.L572L|C16orf62_ENST00000251143.5_Silent_p.L722L|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000542263.1_Silent_p.L718L|C16orf62_ENST00000417362.2_Silent_p.L629L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	722						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCACACGTCTCAATCTCTACC	0.547000													5	20					3.59834e-05	5.19104e-05	0.001168	1	0
TLN1	7094	broad.mit.edu	37	9	35706061	35706061	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr9:35706061C>T	ENST00000314888.9	-	41	5762	c.5409G>A	c.(5407-5409)atG>atA	p.M1803I	TLN1_ENST00000540444.1_Intron|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1803	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGCCTCGGTCATCATCTGCA	0.607000													16	103					0	0	0.004007	0	0
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:745643delC	ENST00000435300.1	-	0	340																											TTCAAAGTGACAGACTGTGGG	0.299													4	2	---	---	---	---					
PAQR6	79957	broad.mit.edu	37	1	156214968	156214969	+	Frame_Shift_Ins	INS	-	-	ATAGGCT			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr1:156214968_156214969insATAGGCT	ENST00000335852.1	-	5	870_871	c.255_256insAGCCTAT	c.(253-258)tacattfs	p.YI85fs	PAQR6_ENST00000292291.5_Frame_Shift_Ins_p.YI191fs|PAQR6_ENST00000368270.1_Frame_Shift_Ins_p.YI167fs|PAQR6_ENST00000356983.2_Frame_Shift_Ins_p.YI85fs|PAQR6_ENST00000360733.2_Frame_Shift_Ins_p.YI85fs|PAQR6_ENST00000540423.1_Frame_Shift_Ins_p.YI188fs|PAQR6_ENST00000492619.1_5'UTR	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	191						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AACAGGAATGGATAGGCGAAGG	0.604													9	103	---	---	---	---					
KIAA0947	23379	broad.mit.edu	37	5	5461386	5461388	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr5:5461386_5461388delTCT	ENST00000296564.7	+	13	2161_2163	c.1939_1941delTCT	c.(1939-1941)del	p.S649del		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	649										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAATCCCCAGTCTTCTTCTGGGT	0.389													9	205	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637794	637794	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr6:637794delG	ENST00000230449.4	-	2	160	c.25delC	c.(25-27)ttfs	p.L9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CCGGTCACAAGGGGGGGTTGT	0.483													25	209	---	---	---	---					
INHBA	3624	broad.mit.edu	37	7	41729440	41729440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:41729440delC	ENST00000242208.4	-	3	1335	c.1089delG	c.(1087-1089)ggfs	p.G363fs	INHBA_ENST00000442711.1_Frame_Shift_Del_p.G363fs|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	363					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGTGAGGACCCGGACGTGC	0.567										TSP Lung(11;0.080)			13	92	---	---	---	---					
MET	4233	broad.mit.edu	37	7	116412042	116412047	+	Splice_Site	DEL	AGGTAT	AGGTAT	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr7:116412042_116412047delAGGTAT	ENST00000397752.3	+	14	3227_3228	c.3028_splice	c.e14+1	p.E1009_splice	MET_ENST00000318493.6_Splice_Site_p.E1027_splice	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1009		Breakpoint for translocation to form TPR- MET oncogene.			axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.?(6)|p.982_1028del47(4)|p.L982_D1028del(3)|p.D981_D1028del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTTTCCAGAAGGTATATTTCAGTTT	0.350			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				7	49	---	---	---	---					
KNDC1	85442	broad.mit.edu	37	10	135009286	135009286	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr10:135009286delC	ENST00000304613.3	+	10	1716	c.1695delC	c.(1693-1695)cgfs	p.R565fs	KNDC1_ENST00000368571.2_Frame_Shift_Del_p.R500fs|KNDC1_ENST00000368572.2_Frame_Shift_Del_p.R565fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	565	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGGCCAGGCGCAGTGCCCCGG	0.692													3	5	---	---	---	---					
KCNQ1	3784	broad.mit.edu	37	11	2869199	2869199	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr11:2869199delC	ENST00000155840.5	+	16	2105	c.1997delC	c.(1996-1998)acfs	p.T666fs	KCNQ1_ENST00000335475.5_Frame_Shift_Del_p.T539fs|KCNQ1-AS1_ENST00000440887.2_RNA|KCNQ1_ENST00000526095.1_3'UTR	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	666					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GAGCAGCTGACCGTGCCCAGG	0.716													2	4	---	---	---	---					
VPS33A	65082	broad.mit.edu	37	12	122729162	122729162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr12:122729162delC	ENST00000267199.4	-	7	1035	c.923delG	c.(922-924)gcfs	p.G308fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Del_p.G269fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	308					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GAGCACAGAGCCAACTGCGTT	0.507													16	69	---	---	---	---					
GRIN2A	2903	broad.mit.edu	37	16	10274229	10274229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr16:10274229delC	ENST00000396573.2	-	3	349	c.40delG	c.(40-42)ccfs	p.A14fs	GRIN2A_ENST00000562109.1_Frame_Shift_Del_p.A14fs|GRIN2A_ENST00000330684.3_Frame_Shift_Del_p.A14fs|GRIN2A_ENST00000396575.2_Frame_Shift_Del_p.A14fs|GRIN2A_ENST00000404927.2_Frame_Shift_Del_p.A14fs	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	14					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACCAGAAGGGCCGGCAGCACC	0.677													7	35	---	---	---	---					
ANKFN1	162282	broad.mit.edu	37	17	54452001	54452002	+	In_Frame_Ins	INS	-	-	CAG			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr17:54452001_54452002insCAG	ENST00000566473.2	+	7	845_846	c.845_846insCAG	c.(844-846)aag>aCAGag	p.282_282K>TE	ANKFN1_ENST00000318698.2_In_Frame_Ins_p.282_282K>TE			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	282	Fibronectin type-III.							p.T282S(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCATGGTAACCAGCAGCACAT	0.460													42	227	---	---	---	---					
CPXM1	56265	broad.mit.edu	37	20	2779492	2779492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr20:2779492delC	ENST00000380605.2	-	2	284	c.220delG	c.(220-222)tcfs	p.V74fs		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	74					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTCATAATGACCTTTTTCTTC	0.577													28	121	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736					NR_027270.1																						TAAAACAGCAGAAAAAATTAAT	0.272													7	112	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36696948	36696950	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-6982-01A-11D-1945-08	TCGA-55-6982-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f11036-7ac4-41bc-a9a4-64162725fdfc	48a02a49-e77f-4a18-a2a2-3e28f13b25da	g.chr22:36696948_36696950delCTC	ENST00000216181.5	-	22	3015_3017	c.2785_2787delGAG	c.(2785-2787)del	p.E929del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	929					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTGGCAGCGCTCCTCCTCCTCC	0.665			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				7	139	---	---	---	---					
