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
FNDC1	84624	broad.mit.edu	37	6	159657323	159657323	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159657323C>G	ENST00000297267.9	+	12	4244	c.4044C>G	c.(4042-4044)atC>atG	p.I1348M	FNDC1_ENST00000340366.6_Missense_Mutation_p.I1285M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1348						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAGAATTATCAATGGCCCTC	0.393000													16	19					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30394794	30394794	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:30394794G>C	ENST00000333027.3	+	8	833	c.505G>C	c.(505-507)Ggt>Cgt	p.G169R	MTMR3_ENST00000323630.5_Missense_Mutation_p.G33R|MTMR3_ENST00000406629.1_Missense_Mutation_p.G169R|MTMR3_ENST00000401950.2_Missense_Mutation_p.G169R|MTMR3_ENST00000351488.3_Missense_Mutation_p.G169R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	169	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAGAGGATGGGTTTTGATAT	0.428000													4	12					0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51883515	51883515	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:51883515C>G	ENST00000221973.3	-	5	630	c.588G>C	c.(586-588)ggG>ggC	p.G196G	LIM2_ENST00000596399.1_Splice_Site_p.G154G	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	154					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TGTAGAAAATCCCTGCATGAG	0.537000													3	22					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27948152	27948152	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27948152C>T	ENST00000374005.3	-	5	634	c.346G>A	c.(346-348)Gag>Aag	p.E116K	FGR_ENST00000374004.1_Missense_Mutation_p.E116K|FGR_ENST00000545953.1_Intron|FGR_ENST00000399173.1_Missense_Mutation_p.E116K	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	116	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACCGAGCCTCCCACCAGTCA	0.592000													14	44					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111601977	111601977	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:111601977G>A	ENST00000261486.5	-	5	662	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	129	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GACGGGACAGGGCAGACGGCC	0.453000													5	6					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803783	142803783	+	RNA	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:142803783A>T	ENST00000423385.1	-	0	1182																											atagttaacaaagtagctggc	0.403000													3	5					0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88719796	88719796	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:88719796G>A	ENST00000372017.3	+	3	244	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Missense_Mutation_p.R85Q	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	68				E -> K (in Ref. 1; AAB64109).		microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						CGCCGTGAGCGAGGCTGTGGT	0.677000													5	6					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7565681	7565681	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:7565681C>T	ENST00000379802.3	+	7	1208	c.867C>T	c.(865-867)tgC>tgT	p.C289C	DSP_ENST00000418664.2_Silent_p.C289C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	289	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAATGACTGCGAGGAGGAGG	0.552000													4	74					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800603	67800603	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67800603G>C	ENST00000544246.1	-	2	2661	c.1970C>G	c.(1969-1971)tCt>tGt	p.S657C	PCDH9_ENST00000377861.3_Missense_Mutation_p.S657C|PCDH9_ENST00000377865.2_Missense_Mutation_p.S657C|PCDH9_ENST00000328454.5_Missense_Mutation_p.S657C|PCDH9_ENST00000456367.1_Missense_Mutation_p.S657C	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	657	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTTGCAGTAGAGGAACGAGG	0.438000													41	137					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111749797	111749797	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111749797C>T	ENST00000524880.1	-	1	352	c.60G>A	c.(58-60)ctG>ctA	p.L20L	C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000542429.1_5'UTR|FDXACB1_ENST00000260257.4_Silent_p.L20L			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	320					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GGGTTTCGCTCAGAGCGGCGG	0.667000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	34					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185638917	185638917	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:185638917G>A	ENST00000453386.2	-	6	972	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	TRA2B_ENST00000382191.4_Missense_Mutation_p.R133W	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	233	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TAGTAGTCCCGATCATCATAG	0.428000													53	39					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128699689	128699689	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128699689C>G	ENST00000357702.5	-	21	3274	c.3143G>C	c.(3142-3144)aGa>aCa	p.R1048T	SAP130_ENST00000259234.6_Missense_Mutation_p.R1021T|SAP130_ENST00000259235.3_Missense_Mutation_p.R1013T	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1013					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CATGGAGTCTCTGGCTTCACT	0.413000													31	71					0	0	1	0	0
SMPD4P1	645280	broad.mit.edu	37	22	20970565	20970565	+	RNA	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:20970565G>A	ENST00000443839.1	-	0	2059																											AGTTTCTTTTGAAACAGACGT	0.522000													7	2					0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22355531	22355531	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:22355531G>T	ENST00000240139.5	+	4	717	c.390G>T	c.(388-390)tgG>tgT	p.W130C	PPP3CC_ENST00000518852.1_Missense_Mutation_p.W130C|PPP3CC_ENST00000397775.3_Missense_Mutation_p.W130C|PPP3CC_ENST00000289963.8_Missense_Mutation_p.W130C	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	130					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATTTATGGAGTTTAAAGA	0.318000													13	23					1.49906e-05	1.54527e-05	1	1	0
FBXL18	80028	broad.mit.edu	37	7	5529800	5529800	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:5529800A>T	ENST00000453700.3	-	5	2161	c.2044T>A	c.(2044-2046)Ttg>Atg	p.L682M	FBXL18_ENST00000382368.3_Intron			Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	682									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TCTTCTCGCAACTCTGTGAAC	0.647000													16	24					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553173	140553173	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140553173G>A	ENST00000231137.3	+	1	931	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		253	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E253K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517000													22	63					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400558	10400558	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10400558G>A	ENST00000397077.1	-	13	2393	c.1818C>T	c.(1816-1818)cgC>cgT	p.R606R	ATP2B2_ENST00000360273.2_Silent_p.R651R|ATP2B2_ENST00000343816.4_Silent_p.R637R|ATP2B2_ENST00000352432.4_Silent_p.R651R|ATP2B2_ENST00000383800.4_Silent_p.R606R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	651					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R606R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCCCGGTCGCGGGGCCGGA	0.632000													12	34					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18705189	18705189	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:18705189C>G	ENST00000392386.3	-	7	1273	c.1080G>C	c.(1078-1080)tcG>tcC	p.S360S	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	360					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCACCGGCCCCGAGCTCGGCT	0.741000													4	7					0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28964159	28964159	+	RNA	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:28964159C>G	ENST00000417404.1	+	0	4417																											AAAGTTATCTCATCGGGTAGA	0.368000													8	13					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46757568	46757568	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:46757568A>C	ENST00000256689.5	-	12	1439	c.995T>G	c.(994-996)tTt>tGt	p.F332C	SLC38A2_ENST00000551374.1_Missense_Mutation_p.F170C	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	332					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATAGCAAAAAATGAAATCTT	0.358000													25	28					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125613386	125613386	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:125613386C>G	ENST00000373670.1	-	19	3954	c.3354G>C	c.(3352-3354)caG>caC	p.Q1118H	RC3H2_ENST00000357244.2_Missense_Mutation_p.Q1118H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1118						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						CACCTAAACTCTGTTTCTTCT	0.383000													46	147					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21046190	21046190	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:21046190G>A	ENST00000339486.3	+	6	1254	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	RIOK3_ENST00000577501.1_Missense_Mutation_p.E213K|RIOK3_ENST00000581585.1_Missense_Mutation_p.E197K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	213					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCTACTCAGAAGAACGTCG	0.353000													19	46					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267925	1267925	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1267925G>A	ENST00000339381.5	+	3	1046	c.1014G>A	c.(1012-1014)gtG>gtA	p.V338V		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	338					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCCAGTACGTGAAGACGCACC	0.701000													9	27					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35914064	35914064	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:35914064T>A	ENST00000339208.6	-	14	1901	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	SYNRG_ENST00000585472.1_Missense_Mutation_p.K508N|SYNRG_ENST00000502449.2_Missense_Mutation_p.K509N|SYNRG_ENST00000345615.4_Missense_Mutation_p.K509N|SYNRG_ENST00000394378.2_Missense_Mutation_p.K509N|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Missense_Mutation_p.K426N|SYNRG_ENST00000346661.4_Missense_Mutation_p.K587N	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	587	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTTTTGTCTTTTGTTGGTG	0.408000													79	33					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072405	197072405	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:197072405G>C	ENST00000367409.4	-	18	6232	c.5976C>G	c.(5974-5976)atC>atG	p.I1992M	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1992	IQ 13.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTTTCATGATTTTCCACT	0.338000													29	80					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49672418	49672418	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:49672418G>A	ENST00000561648.1	-	4	698	c.645C>T	c.(643-645)acC>acT	p.T215T	ZNF423_ENST00000535559.1_Silent_p.T98T|ZNF423_ENST00000562871.1_Silent_p.T155T|ZNF423_ENST00000567169.1_Silent_p.T98T|ZNF423_ENST00000563137.2_Silent_p.T155T|ZNF423_ENST00000262383.2_Silent_p.T215T|ZNF423_ENST00000562520.1_Silent_p.T155T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	215					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGAGCTGTGGGTCTTCAGGT	0.592000													24	7					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510909	49510909	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:49510909G>A	ENST00000396029.3	-	5	909	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ADNP_ENST00000396032.3_Silent_p.F114F|ADNP_ENST00000349014.3_Silent_p.F114F|ADNP_ENST00000371602.4_Silent_p.F114F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TGTCTGCATTGAAGGTACAGT	0.393000													43	115					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98312731	98312731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98312731C>T	ENST00000371142.4	-	6	962	c.746G>A	c.(745-747)aGa>aAa	p.R249K		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	249						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATAATCTTTTCTTAATGTTCT	0.299000													13	26					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136599158	136599158	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136599158C>T	ENST00000371872.4	-	2	395	c.138G>A	c.(136-138)ctG>ctA	p.L46L	SARDH_ENST00000439388.1_Silent_p.L46L|SARDH_ENST00000422262.2_Intron|SARDH_ENST00000298628.5_Silent_p.L46L|SARDH_ENST00000371867.1_5'UTR	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	46					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCTCCTTCAGGGTCCGCT	0.692000													11	29					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992501	19992501	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19992501G>A	ENST00000289753.1	+	1	722	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	85					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGGCCATGCTGAACGCGCTGT	0.667000													8	36					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55452006	55452006	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:55452006C>A	ENST00000371268.3	+	2	526	c.252C>A	c.(250-252)ggC>ggA	p.G84G	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	84						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TGCTCATTGGCCTGCTGTGGT	0.647000													26	94					3.01185e-09	3.15331e-09	1	1	0
ACOT11	26027	broad.mit.edu	37	1	55074676	55074676	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:55074676C>T	ENST00000343744.2	+	16	1758	c.1676C>T	c.(1675-1677)aCc>aTc	p.T559I	ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR	NM_147161.3	NP_671517.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	0	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AACTATGTGACCACCAACGTG	0.587000													36	114					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	107194757	107194757	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:107194757G>C	ENST00000393603.2	-	3	629	c.358C>G	c.(358-360)Caa>Gaa	p.Q120E	COG5_ENST00000347053.3_Missense_Mutation_p.Q120E|COG5_ENST00000297135.3_Missense_Mutation_p.Q120E	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	120					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCAGTTGCTTGTGCCAGTAAA	0.378000													20	27					0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607197	46607197	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46607197G>A	ENST00000239174.6	-	2	710	c.618C>T	c.(616-618)ctC>ctT	p.L206L	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	206						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTTGGTGCGGAGGCCACTGG	0.607000													38	115					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73574927	73574927	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:73574927G>C	ENST00000224721.6	+	69	9977	c.9972G>C	c.(9970-9972)gaG>gaC	p.E3324D	CDH23_ENST00000398788.3_Missense_Mutation_p.E1079D|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3319					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCTGCCGAGGCCACTGCCT	0.662000													4	9					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181745299	181745299	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:181745299C>T	ENST00000526775.1	+	37	5310	c.5145C>T	c.(5143-5145)tcC>tcT	p.S1715S	CACNA1E_ENST00000360108.3_Silent_p.S1715S|CACNA1E_ENST00000367567.4_Silent_p.S1341S|CACNA1E_ENST00000358338.5_Silent_p.S1666S|CACNA1E_ENST00000367573.2_Silent_p.S1734S|CACNA1E_ENST00000367570.1_Silent_p.S1734S|CACNA1E_ENST00000357570.5_Silent_p.S1685S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1734					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGACTCCTCCATCCTGGGGC	0.607000													6	117					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85592370	85592370	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:85592370C>G	ENST00000294664.6	+	20	2469	c.2289C>G	c.(2287-2289)atC>atG	p.I763M	WDR63_ENST00000326813.8_Missense_Mutation_p.I724M|WDR63_ENST00000370596.1_Missense_Mutation_p.I724M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	763										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAACTATGATCACCTACATCA	0.383000													27	46					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110489911	110489911	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:110489911T>C	ENST00000324068.1	-	13	1987	c.1820A>G	c.(1819-1821)gAt>gGt	p.D607G	CAPN6_ENST00000541758.1_Missense_Mutation_p.D352G	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	607	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGACTTCAGATCACGGCAGTC	0.512000													53	9					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	24					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99387566	99387566	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:99387566G>A	ENST00000370188.3	-	4	1030	c.670C>T	c.(670-672)Cca>Tca	p.P224S	LPPR5_ENST00000263177.4_Missense_Mutation_p.P224S	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		224						integral to membrane	hydrolase activity										CATAGAACTGGCTTAGCAAGT	0.368000													13	36					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	6969151	6969151	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:6969151G>A	ENST00000409757.4	+	3	967	c.843G>A	c.(841-843)aaG>aaA	p.K281K	TBC1D14_ENST00000448507.1_Splice_Site_p.K281K|TBC1D14_ENST00000410031.1_Splice_Site_p.K53K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	281						intracellular	Rab GTPase activator activity	p.K281N(1)|p.K266N(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GAATACAGAAGGTACACAAGA	0.393000													21	58					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137711985	137711985	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:137711985C>A	ENST00000371817.3	+	58	4884	c.4470C>A	c.(4468-4470)ctC>ctA	p.L1490L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1490	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGATCGGGCTCATCGGTCCTC	0.637000													22	62					3.08376e-08	3.21601e-08	1	1	0
MPP5	64398	broad.mit.edu	37	14	67787792	67787792	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:67787792G>A	ENST00000261681.4	+	13	2217	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.R485Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	519	Guanylate kinase-like.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CGGAGTAGGCGAGACCAAGAA	0.448000													39	71					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65782623	65782623	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:65782623C>G	ENST00000341861.5	-	6	2358	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	DPP8_ENST00000559233.1_Missense_Mutation_p.E260Q|DPP8_ENST00000339244.5_Missense_Mutation_p.E260Q|DPP8_ENST00000321147.6_Missense_Mutation_p.E260Q|DPP8_ENST00000358939.4_Missense_Mutation_p.E244Q|DPP8_ENST00000300141.6_Missense_Mutation_p.E244Q|DPP8_ENST00000321118.7_Missense_Mutation_p.E260Q	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	260					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCATCTTCTTCCATGTTGGCT	0.368000													11	54					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87671723	87671723	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:87671723C>T	ENST00000436978.1	+	18	3231	c.2751C>T	c.(2749-2751)ctC>ctT	p.L917L	PTPN13_ENST00000427191.2_Silent_p.L917L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000411767.2_Silent_p.L917L|PTPN13_ENST00000511467.1_Silent_p.L917L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	917						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGCACCCTCAACAAACTTG	0.478000													30	91					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102946407	102946407	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:102946407G>A	ENST00000504592.1	+	13	1708	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	BANK1_ENST00000428908.1_Silent_p.Q312Q|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Silent_p.Q312Q|BANK1_ENST00000444316.2_Silent_p.Q415Q|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Silent_p.Q445Q			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	445					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CATACGGGCAGAGTGCAGATG	0.463000													25	64					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	35993780	35993780	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35993780G>A	ENST00000339686.3	-	10	1319	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	DMKN_ENST00000429837.1_Silent_p.V340V|DMKN_ENST00000443640.1_Silent_p.V144V|DMKN_ENST00000419602.1_Silent_p.V370V|DMKN_ENST00000492341.2_Silent_p.V28V|DMKN_ENST00000436012.1_Silent_p.V77V|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000472252.2_Silent_p.V28V|DMKN_ENST00000467637.1_Silent_p.V106V|DMKN_ENST00000402589.2_Silent_p.V94V|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000602781.1_Silent_p.V94V|DMKN_ENST00000414866.2_Silent_p.V94V	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	381						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGGGGGCGGGACCTGGTTCT	0.607000													16	37					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135922214	135922214	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:135922214G>A	ENST00000264158.8	+	23	2700	c.2657G>A	c.(2656-2658)gGa>gAa	p.G886E	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G886E|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G842E|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	886						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCGGTGCAGGAAGAGGACAT	0.498000													10	22					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49053759	49053759	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:49053759C>G	ENST00000440857.1	-	10	1362	c.660G>C	c.(658-660)ctG>ctC	p.L220L	DALRD3_ENST00000341949.4_Silent_p.L387L|DALRD3_ENST00000441576.2_Silent_p.L387L|DALRD3_ENST00000395462.4_Silent_p.L220L|DALRD3_ENST00000313778.5_Silent_p.L220L			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	387					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCTGTCAGCCAGAGCCAGGA	0.547000													3	28					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48985570	48985570	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:48985570T>C	ENST00000378434.4	-	7	2614	c.990A>G	c.(988-990)ctA>ctG	p.L330L	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.L330L	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	330						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTAAGGTCTGTAGGTTATGCT	0.358000													66	22					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29585795	29585795	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:29585795C>G	ENST00000356870.3	+	4	610	c.500C>G	c.(499-501)tCc>tGc	p.S167C	PTPRU_ENST00000460170.2_Missense_Mutation_p.S167C|PTPRU_ENST00000323874.8_Missense_Mutation_p.S167C|PTPRU_ENST00000373779.3_Missense_Mutation_p.S167C|PTPRU_ENST00000345512.3_Missense_Mutation_p.S167C|PTPRU_ENST00000428026.2_Missense_Mutation_p.S167C	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	167	MAM.				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)		GCCCTCATCTCCCCAGACCGC	0.642000													7	38					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73681096	73681096	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:73681096C>T	ENST00000339764.1	+	8	1639	c.888C>T	c.(886-888)atC>atT	p.I296I	DNAJB13_ENST00000537753.1_Silent_p.I121I|RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Silent_p.I121I	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	296					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TCTTCGACATCCAGTTCCCCA	0.577000													29	150					0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809375	8809375	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:8809375C>T	ENST00000316793.3	-	3	1123	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	167					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)	GGCGCGCTGGCCACCAGGCAG	0.716000													21	12					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44067925	44067925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:44067925C>A	ENST00000319359.3	-	4	1119	c.478G>T	c.(478-480)Gag>Tag	p.E160*	RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	160					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CCCACCTCCTCTAGTGCCATC	0.532000											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	51					1.48341e-19	1.60005e-19	1	1	0
TNR	7143	broad.mit.edu	37	1	175334312	175334312	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:175334312G>A	ENST00000367674.2	-	12	3129	c.2421C>T	c.(2419-2421)aaC>aaT	p.N807N	TNR_ENST00000263525.2_Silent_p.N807N			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGGGCTGTAGTTAAGAATGA	0.532000													11	28					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568242	131568242	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568242C>G	ENST00000372648.5	+	10	1173	c.1023C>G	c.(1021-1023)ctC>ctG	p.L341L	TBC1D13_ENST00000539497.1_Silent_p.L160L|TBC1D13_ENST00000223865.8_Silent_p.L216L	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	341	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GGGACTCCCTCTTCGCCGATG	0.582000													17	27					0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194344402	194344402	+	Missense_Mutation	SNP	C	C	G	rs143204807		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:194344402C>G	ENST00000392432.2	-	4	586	c.381G>C	c.(379-381)aaG>aaC	p.K127N	TMEM44_ENST00000347147.4_Missense_Mutation_p.K127N|TMEM44_ENST00000273580.7_Missense_Mutation_p.K127N|TMEM44_ENST00000381975.3_Missense_Mutation_p.K127N|TMEM44_ENST00000330115.3_Missense_Mutation_p.K24N|TMEM44_ENST00000473092.1_Missense_Mutation_p.K127N	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	127						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GCCGCCTCCTCTTCCTCTCTC	0.617000													10	39					0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161200586	161200586	+	Silent	SNP	T	T	G	rs2307418	by1000genomes	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:161200586T>G	ENST00000506209.1	-	7	989	c.847A>C	c.(847-849)Agg>Cgg	p.R283R	NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000479324.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000428574.2_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCAAGCCCTCAGTGTCCCA	0.532000													3	33					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76122887	76122887	+	Silent	SNP	G	G	A	rs145198906		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:76122887G>A	ENST00000590602.1	-	2	186	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TMC6_ENST00000589553.1_Intron|TMC6_ENST00000392467.3_Silent_p.L9L|TMC6_ENST00000322914.3_Silent_p.L9L|TMC6_ENST00000306591.7_Silent_p.L9L|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	9						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGGACATCGAGGATGAAGG	0.667000													6	23					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846947	123846947	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:123846947T>C	ENST00000369005.1	+	4	5272	c.4932T>C	c.(4930-4932)ccT>ccC	p.P1644P	TACC2_ENST00000515273.1_Silent_p.P1644P|TACC2_ENST00000334433.3_Silent_p.P1644P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1644P|TACC2_ENST00000453444.2_Silent_p.P1644P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1644						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGACTGTGCCTGAGGCCAACA	0.592000													15	19					0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305294	9305294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:9305294C>T	ENST00000377403.2	+	2	603	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	H6PD_ENST00000602477.1_Nonsense_Mutation_p.Q112*	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	101	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCACAAGGATCAGTTCCTGCA	0.617000													39	29					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128630177	128630177	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:128630177C>T	ENST00000393245.1	-	11	1811	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	TNPO3_ENST00000482320.1_Intron|TNPO3_ENST00000471166.1_Missense_Mutation_p.E480K|TNPO3_ENST00000471234.1_Intron|TNPO3_ENST00000265388.5_Intron	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	453					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAAGTACTCACAGTTACTG	0.453000													40	77					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4730215	4730215	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:4730215G>A	ENST00000354582.6	+	31	4089	c.3739G>A	c.(3739-3741)Gct>Act	p.A1247T	ITPR1_ENST00000443694.2_Missense_Mutation_p.A1232T|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1238T|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1223T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1232T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1238T|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1247					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AATGAGGTTGGCTCATGAATT	0.468000													30	106					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147580	33147580	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33147580C>A	ENST00000360668.3	+	4	1005	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.L86M|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.L82M			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	82					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CTTCTTCCTGCTGGTGAACCA	0.632000													81	173					1.11057e-38	1.22003e-38	1	1	0
CD2AP	23607	broad.mit.edu	37	6	47512341	47512341	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47512341G>A	ENST00000359314.5	+	4	775		c.e4-1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACTTTCTTTAGAGACCAAGAA	0.289000													17	84					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003997	122003997	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:122003997G>C	ENST00000498619.1	+	7	3664	c.3226G>C	c.(3226-3228)Ggt>Cgt	p.G1076R	CASR_ENST00000296154.5_Missense_Mutation_p.G1066R|CASR_ENST00000490131.1_Missense_Mutation_p.G1066R	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	1066					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTCATCAGTGGTGGAGGCAG	0.532000													23	51					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97887396	97887396	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:97887396A>C	ENST00000289081.3	-	10	1222	c.968T>G	c.(967-969)gTa>gGa	p.V323G	FANCC_ENST00000375305.1_Missense_Mutation_p.V323G|FANCC_ENST00000464653.1_5'UTR	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	323					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGAGCTTCTACAAAGCACTG	0.438000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	35					0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149588987	149588987	+	Missense_Mutation	SNP	C	C	T	rs144483863	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:149588987C>T	ENST00000230671.2	+	14	2091	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	SLC6A7_ENST00000524041.1_Missense_Mutation_p.R574W	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	574						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACAGGCCAGCCGGCCGGCCAT	0.622000													15	44					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132169586	132169586	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:132169586C>G	ENST00000260818.6	+	6	680	c.432C>G	c.(430-432)acC>acG	p.T144T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	144							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATCCTGCAACCAACAGAGTAC	0.358000													21	32					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916528	13916528	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:13916528C>T	ENST00000285018.4	-	2	518	c.214G>A	c.(214-216)Gag>Aag	p.E72K	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	72			E -> K (in LPHAS).		activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.E72K(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AACTGACACTCGTCCAGGCCC	0.597000													18	35					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27945821	27945821	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:27945821C>T	ENST00000345068.5	-	5	833	c.620G>A	c.(619-621)gGc>gAc	p.G207D	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000584969.1_Missense_Mutation_p.G207D|CORO6_ENST00000388767.3_Missense_Mutation_p.G207D|CORO6_ENST00000580212.1_Missense_Mutation_p.G207D|CORO6_ENST00000445145.2_Missense_Mutation_p.G207D			Q6QEF8	CORO6_HUMAN	coronin 6	207					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CACCACTTGGCCTTTTCTGGG	0.597000													10	27					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36492140	36492140	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36492140A>G	ENST00000229812.7	-	4	569	c.284T>C	c.(283-285)aTa>aCa	p.I95T		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	95	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTCTGCCTATTACTTTTAA	0.378000													96	24					0	0	1	0	0
GXYLT2	727936	broad.mit.edu	37	3	72957678	72957678	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:72957678G>A	ENST00000389617.4	+	2	597	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	146					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CATCTTCACTGAAGACTCTCT	0.463000													29	29					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128185988	128185988	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128185988G>A	ENST00000453608.2	+	8	1025	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E	PROC_ENST00000422777.3_Silent_p.E284E|PROC_ENST00000234071.3_Silent_p.E284E|PROC_ENST00000409048.1_Silent_p.E318E			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	284	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACATCAAGGAGGTCTTCGTCC	0.632000													30	34					0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25967107	25967107	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:25967107A>G	ENST00000357085.3	+	3	833	c.357A>G	c.(355-357)ccA>ccG	p.P119P	TRIM38_ENST00000349458.3_Silent_p.P119P	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	119					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGCGGGCACCACAGCACAAAG	0.557000													13	81					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799881	67799881	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67799881C>T	ENST00000544246.1	-	2	3383	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	PCDH9_ENST00000377861.3_Missense_Mutation_p.E898K|PCDH9_ENST00000377865.2_Missense_Mutation_p.E898K|PCDH9_ENST00000328454.5_Missense_Mutation_p.E898K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E898K	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	898					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGATAGGTTCATGAACTGCA	0.438000													82	113					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9604544	9604544	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:9604544C>G	ENST00000285199.7	+	11	1740	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	USP43_ENST00000570475.1_Missense_Mutation_p.F548L|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTTTTCAGTTCTACACCAAGG	0.657000													4	6					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75457454	75457454	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:75457454T>C	ENST00000443782.2	-	1	185	c.60A>G	c.(58-60)caA>caG	p.Q20Q	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.Q20Q			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	20					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.Q20Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CCGACCCCTGTTGCTGGTCAA	0.607000													4	62					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128324290	128324290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128324290C>T	ENST00000389524.4	+	5	411	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	MYO7B_ENST00000428314.1_Nonsense_Mutation_p.Q120*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.Q120*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	120	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGCAGGTACAGCTCTACTA	0.592000													4	17					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93273263	93273263	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:93273263C>G	ENST00000163416.2	+	3	983	c.727C>G	c.(727-729)Caa>Gaa	p.Q243E	GOLGA5_ENST00000355976.2_Missense_Mutation_p.Q243E	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	243					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTCTTTAAATCAAGAAATGGC	0.383000			T	RET	papillary thyroid								14	70					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66587330	66587330	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587330G>A	ENST00000319212.4	+	2	194	c.144G>A	c.(142-144)ggG>ggA	p.G48G	DIS3L_ENST00000441424.2_5'UTR|DIS3L_ENST00000319194.5_5'UTR	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	48					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCAGATGGGAAACTCTTGT	0.368000													14	25					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91963047	91963047	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:91963047G>A	ENST00000375807.3	+	12	1727	c.1656G>A	c.(1654-1656)gtG>gtA	p.V552V	SECISBP2_ENST00000339901.4_Silent_p.V479V|SECISBP2_ENST00000534113.2_Silent_p.V484V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	552					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAAATGCTGTGAGTCCAGCTT	0.398000													14	59					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:12358835C>A	ENST00000269143.3	-	8	1091	c.860G>T	c.(859-861)gGa>gTa	p.G287V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	287					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547000													15	59					7.07596e-05	7.25218e-05	1	1	0
ZIC2	7546	broad.mit.edu	37	13	100634397	100634397	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:100634397G>A	ENST00000376335.3	+	1	372	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	27	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTccgccgcggcggcggcggc	0.756000													4	4					0	0	1	0	0
CST8	10047	broad.mit.edu	37	20	23472362	23472362	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:23472362G>A	ENST00000246012.1	+	2	415	c.58G>A	c.(58-60)Gcc>Acc	p.A20T		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	20						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCCCTGGTGGCCAGGAAAGA	0.557000													47	89					0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655249	3655249	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:3655249G>A	ENST00000356518.2	-	6	743	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	ADAM33_ENST00000350009.2_Missense_Mutation_p.R168W|ADAM33_ENST00000379861.4_Missense_Mutation_p.R168W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	168					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGCTCCATCCGAAAGATCTCG	0.607000													29	139					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57992965	57992965	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:57992965C>T	ENST00000354947.5	+	5	647	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.L163F|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.L193F|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.L211F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	211	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TAGCCACCGTCTTCCTGTGCA	0.537000													18	36					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3697705	3697705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:3697705G>A	ENST00000378251.1	-	7	1726	c.1699C>T	c.(1699-1701)Ccg>Tcg	p.P567S		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCCTTGGACGGGTACACCACC	0.652000													18	45					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13226568	13226568	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13226568C>G	ENST00000592062.1	-	5	895	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000221504.8_Missense_Mutation_p.E109Q|TRMT1_ENST00000437766.1_Missense_Mutation_p.E109Q|TRMT1_ENST00000357720.4_Missense_Mutation_p.E109Q			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	109							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GTGTCCTTCTCTCCTGGAACC	0.502000													45	141					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497266	52497266	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:52497266C>T	ENST00000602063.1	-	6	1412	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	ZNF615_ENST00000598071.1_Missense_Mutation_p.E366K|ZNF615_ENST00000391795.3_Missense_Mutation_p.E360K|ZNF615_ENST00000376716.5_Missense_Mutation_p.E355K|ZNF615_ENST00000594083.1_Missense_Mutation_p.E366K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGCCTCTTCTCAATGAAGCCT	0.398000													49	101					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140720625C>T	ENST00000394576.2	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672000													6	151					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912796	150912796	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:150912796C>T	ENST00000329903.4	+	6	1854	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	607					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGACCAACATGGAAACCT	0.572000													84	32					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536804	44536804	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:44536804C>T	ENST00000187879.8	+	4	1139	c.977C>T	c.(976-978)tCa>tTa	p.S326L	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.S366L	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AAATGGTCCTCATATCTTTTG	0.413000													70	117					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367139	107367139	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:107367139A>G	ENST00000542196.1	-	1	812	c.770T>C	c.(769-771)tTc>tCc	p.F257S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CATGTACATGAAGAGGATGGT	0.438000													34	89					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216656	78216656	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:78216656C>T	ENST00000171757.2	+	4	919	c.639C>T	c.(637-639)atC>atT	p.I213I	P2RY10_ENST00000544091.1_Silent_p.I213I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	213						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTGATCATCATCGCATGGT	0.478000													24	35					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42635140	42635140	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42635140G>A	ENST00000315323.3	+	1	216	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	28					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCACGGGGAGAAGGGCATCT	0.721000													15	34					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:39448239G>A	ENST00000257408.4	+	4	1990	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	631	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGAGGGGCTGAAGCTTGGCA	0.627000													20	61					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131896844	131896844	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:131896844G>A	ENST00000286355.5	-	8	4167	c.2075C>T	c.(2074-2076)tCa>tTa	p.S692L	ADCY8_ENST00000377928.3_Missense_Mutation_p.S692L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	692					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)			AAACATCAGTGAGAATGGCTT	0.458000										HNSCC(32;0.087)			47	71					0	0	1	0	0
IFIT2	3433	broad.mit.edu	37	10	91061883	91061883	+	Translation_Start_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:91061883G>A	ENST00000371826.3	+	1	172	c.3G>A	c.(1-3)atG>atA	p.M1I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	1					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	p.M1I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CTGCAACCATGAGGTAAATAT	0.468000													14	36					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967636	88967636	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:88967636G>C	ENST00000375961.2	-	2	693	c.479C>G	c.(478-480)aCa>aGa	p.T160R	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.T160R|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.T160R|ZCCHC6_ENST00000277141.6_5'UTR			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	160					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTCTAGGCTTGTTAGGTCTTT	0.408000													52	126					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659286	176659286	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:176659286C>T	ENST00000367662.3	+	5	3315	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	PAPPA2_ENST00000367661.3_Silent_p.L717L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	717	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCATTGTCCTCAGCCCAGCAT	0.423000													24	60					0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211751728	211751728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:211751728C>T	ENST00000367001.4	-	1	356	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	76					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	p.R76L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TACCTCGGCTCGGATCCAGCC	0.662000													8	13					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006301	24006301	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24006301C>T	ENST00000328046.8	-	4	1807	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	518										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGATCAGTCTCTGGGTTGTAT	0.478000													110	28					0	0	1	0	0
C5AR2	27202	broad.mit.edu	37	19	47844630	47844630	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:47844630G>A	ENST00000595464.1	+	2	792	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	C5AR2_ENST00000257267.2_Missense_Mutation_p.G192S|C5AR2_ENST00000600626.1_Missense_Mutation_p.G192S	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		GGACTACGGCGGCTCCTCCAG	0.667000													33	45					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81049571	81049571	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:81049571G>A	ENST00000334512.5	+	9	1037	c.465G>A	c.(463-465)caG>caA	p.Q155Q	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	155					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTGGCAGCAGAACACCAACC	0.592000													7	42					0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2578122	2578122	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:2578122G>A	ENST00000261597.4	+	5	640	c.458G>A	c.(457-459)aGa>aAa	p.R153K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	153	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAGGTTCCAAGAATCTTTAAA	0.363000													61	61					0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109957934	109957934	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:109957934C>G	ENST00000271308.4	-	3	168	c.148G>C	c.(148-150)Gtg>Ctg	p.V50L	PSMA5_ENST00000538610.1_5'UTR|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CTCTTCTCCACAGCTAGGCAC	0.433000													29	31					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34997058	34997058	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:34997058C>A	ENST00000541010.1	+	3	3861	c.849C>A	c.(847-849)atC>atA	p.I283I	DNAJB5_ENST00000454002.2_Silent_p.I355I|DNAJB5_ENST00000453597.3_Silent_p.I397I|DNAJB5_ENST00000312316.5_Silent_p.I283I|DNAJB5_ENST00000545841.1_Silent_p.I283I|DNAJB5_ENST00000335998.3_Silent_p.I317I			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	283					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCCCACTATCGACGGCCGAG	0.557000													41	199					1.41504e-22	1.53559e-22	1	1	0
NCAPD2	9918	broad.mit.edu	37	12	6637881	6637881	+	Silent	SNP	G	G	A	rs149244253	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:6637881G>A	ENST00000315579.5	+	26	4135	c.3336G>A	c.(3334-3336)gcG>gcA	p.A1112A	NCAPD2_ENST00000545962.1_Silent_p.A1067A	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1112					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGAAAACAGCGGGGCTGGTGA	0.597000													8	68					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32525013	32525013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:32525013C>A	ENST00000286827.3	-	20	3778	c.3307G>T	c.(3307-3309)Gaa>Taa	p.E1103*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E1043*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1103	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTCCATCTTCTAGAGTTTTA	0.378000													25	57					9.57634e-11	1.00853e-10	1	1	0
RUFY2	55680	broad.mit.edu	37	10	70105549	70105549	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:70105549C>T	ENST00000388768.2	-	18	2228	c.1902G>A	c.(1900-1902)caG>caA	p.Q634Q	RUFY2_ENST00000602465.1_Silent_p.Q599Q|RUFY2_ENST00000265865.3_Silent_p.Q189Q	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	648						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATGAGCATCTCTGAATGAGCA	0.408000													29	78					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62926191	62926191	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:62926191C>T	ENST00000253401.6	-	3	1128	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E8K|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E89K|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E108K|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E57K	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	110	DH.|Interaction with GPHN (By similarity).				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCATTATCTCATTGATGACA	0.532000													4	5					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269206	185269206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:185269206G>A	ENST00000367498.3	-	13	2048	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Q258*	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	476					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGTCCTTTTTGACCATATGGA	0.323000													19	30					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4366967	4366967	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4366967C>A	ENST00000269886.3	-	2	248	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	SH3GL1_ENST00000598564.1_Missense_Mutation_p.A24S|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A24S	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	24	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTCCCCTCGGCCCCTCCGACC	0.597000			T	MLL	AL								45	143					1.48734e-19	1.60106e-19	1	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	75					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	39					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399947	124399947	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:124399947A>T	ENST00000368909.3	+	52	7053	c.6947A>T	c.(6946-6948)tAt>tTt	p.Y2316F	DMBT1_ENST00000330163.4_Missense_Mutation_p.Y1688F|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y2306F|DMBT1_ENST00000359586.6_Missense_Mutation_p.Y1036F|DMBT1_ENST00000368956.2_Missense_Mutation_p.Y1688F|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y2306F|DMBT1_ENST00000338354.3_Missense_Mutation_p.Y2316F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2316	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTTTGACTTATGATCTAATC	0.448000													7	15					0	0	1	0	0
LSM14B	149986	broad.mit.edu	37	20	60706476	60706476	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:60706476C>T	ENST00000253001.4	+	7	1106	c.900C>T	c.(898-900)ccC>ccT	p.P300P	LSM14B_ENST00000279068.6_Silent_p.P300P			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	300					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGAAGCGCCCGCTGAGGAAG	0.527000													21	25					0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40715063	40715063	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:40715063C>T	ENST00000361263.4	-	3	850	c.169G>A	c.(169-171)Gag>Aag	p.E57K	HMGN1_ENST00000380747.1_Missense_Mutation_p.G109E|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380749.5_Missense_Mutation_p.G93E|HMGN1_ENST00000380748.1_Missense_Mutation_p.G83E			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	16					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTCTTTCTCTCCTGCTTCATC	0.368000													9	44					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70818196	70818196	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:70818196G>A	ENST00000358731.4	+	23	5335	c.5072G>A	c.(5071-5073)aGa>aAa	p.R1691K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1691					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATTTGGGAAGAGCACACAGT	0.398000													80	65					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562512	28562512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:28562512G>A	ENST00000383768.2	+	9	1002	c.814G>A	c.(814-816)Gag>Aag	p.E272K	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E272K			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	272							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTTACTAAAAGAGCTGGAGCA	0.368000													8	32					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137750823	137750823	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:137750823A>G	ENST00000314358.5	+	12	3402	c.3202A>G	c.(3202-3204)Aca>Gca	p.T1068A	KDM3B_ENST00000542866.1_Missense_Mutation_p.T100A|KDM3B_ENST00000394866.1_Missense_Mutation_p.T724A	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1068					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						TATTTCAGAGACAGAAGAGAT	0.413000													10	37					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54143101	54143101	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:54143101T>A	ENST00000375180.2	-	10	2245	c.2189A>T	c.(2188-2190)aAa>aTa	p.K730I	FAM120C_ENST00000328235.4_Missense_Mutation_p.K730I	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	730										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTCAACTGCTTTGCCTAGCCA	0.527000													40	14					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66932910	66932910	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:66932910C>G	ENST00000359742.4	-	4	606	c.366G>C	c.(364-366)aaG>aaC	p.K122N	GRIP1_ENST00000398016.3_Missense_Mutation_p.K122N|GRIP1_ENST00000286445.7_Missense_Mutation_p.K122N			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	122	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTCCCACATTCTTCAGCAAGC	0.488000													6	117					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44067580	44067580	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:44067580C>T	ENST00000319359.3	-	6	1211		c.e6-1		RP11-296A16.1_ENST00000417761.2_Splice_Site|ELL3_ENST00000497465.1_5'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3						positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGTCTGGCTTCTAGGATATTT	0.458000											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	18					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081358	53081358	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:53081358C>A	ENST00000305901.5	-	1	851	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	242					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TTGATGGGCACCATGCCGGCC	0.706000													54	50					4.25531e-23	4.63665e-23	1	1	0
PLEC	5339	broad.mit.edu	37	8	144992514	144992514	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:144992514C>G	ENST00000322810.4	-	32	12055	c.11886G>C	c.(11884-11886)caG>caC	p.Q3962H	PLEC_ENST00000436759.2_Missense_Mutation_p.Q3852H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3825H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3848H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3793H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3825H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3829H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3803H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3811H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3962	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTAGCCACGCTGGTAAGCCA	0.682000													3	5					0	0	1	0	0
PFN1	5216	broad.mit.edu	37	17	4849962	4849962	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:4849962C>T	ENST00000225655.5	-	2	905	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PFN1_ENST00000574872.1_Missense_Mutation_p.A60T	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	96					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						AAGGTGGGGGCCCCACCGGTG	0.532000													23	87					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7094036	7094036	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7094036C>G	ENST00000399510.2	-	22	3147	c.2295G>C	c.(2293-2295)gaG>gaC	p.E765D	DLG4_ENST00000399506.2_Missense_Mutation_p.E722D|DLG4_ENST00000302955.6_Missense_Mutation_p.E719D	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	722					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						ATCAGAGTCTCTCTCGGGCTG	0.617000													12	53					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817831	1817831	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:1817831C>T	ENST00000250894.4	+	28	3589	c.3432C>T	c.(3430-3432)ttC>ttT	p.F1144F	MAPK8IP3_ENST00000356010.5_Silent_p.F1138F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1144					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GTTTCTCCTTCGTACGCATCA	0.667000													3	44					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42218552	42218552	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:42218552G>A	ENST00000400454.1	-	1	513	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	12					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACCATTCGCGAAGCTCTGGA	0.657000													5	2					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562753	32562753	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:32562753C>G	ENST00000345122.3	+	2	3193	c.2878C>G	c.(2878-2880)Caa>Gaa	p.Q960E	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q960E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q960E|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q960E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	960					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAACCCATCAAAGTGAAGA	0.358000													53	44					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36754808	36754808	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:36754808A>C	ENST00000354618.5	+	5	1412	c.1188A>C	c.(1186-1188)aaA>aaC	p.K396N	THRAP3_ENST00000469141.2_Missense_Mutation_p.K396N	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	396					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCTCCCAAAACTGATTCTG	0.418000			T	USP6	aneurysmal bone cysts								29	68					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910077	39910077	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:39910077C>T	ENST00000350221.3	-	11	1767	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	520										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATAAAATAGTCTTTTGTGTCA	0.408000													55	52					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3182340	3182340	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:3182340G>T	ENST00000355072.5	+	36	4856	c.4711G>T	c.(4711-4713)Gtg>Ttg	p.V1571L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1571					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAAAGAGGTGGTGGTGTCAAT	0.453000													35	34					1.61788e-16	1.72081e-16	1	1	0
MRI1	84245	broad.mit.edu	37	19	13882933	13882933	+	Splice_Site	SNP	A	A	G	rs112124892	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13882933A>G	ENST00000319545.8	+	6	865		c.e6-1		CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Splice_Site	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1						L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TCTCCCCTGCAGGGATTGGAG	0.542000													33	28					0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156850779	156850779	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:156850779T>C	ENST00000433477.3	-	6	822	c.753A>G	c.(751-753)caA>caG	p.Q251Q		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	251					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCAGATAATCTTGCCAGCTCA	0.413000													16	46					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75533668	75533668	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:75533668T>G	ENST00000297785.3	-	8	872	c.818A>C	c.(817-819)aAg>aCg	p.K273T	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	273					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GCAAGGGCTCTTTCCTCCAAG	0.468000													35	63					0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150061768	150061768	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:150061768T>C	ENST00000409642.3	+	4	480	c.79T>C	c.(79-81)Tat>Cat	p.Y27H	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Splice_Site_p.Y27H|LYPD6B_ENST00000409876.1_Splice_Site_p.Y3H|LYPD6B_ENST00000409029.1_Splice_Site_p.Y3H	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	3						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCACCATAGATATAAGAGTTC	0.433000													52	43					0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9976525	9976525	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9976525G>C	ENST00000383811.3	+	2	780	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CRELD1_ENST00000397170.3_Missense_Mutation_p.E61Q|CRELD1_ENST00000326434.5_Missense_Mutation_p.E61Q|CRELD1_ENST00000452070.1_Missense_Mutation_p.E61Q	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	61					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CCAGGGCCTGGAGAGAACCAT	0.498000													7	15					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57949211	57949211	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:57949211T>C	ENST00000564448.1	-	23	2288	c.2228A>G	c.(2227-2229)gAt>gGt	p.D743G	CNGB1_ENST00000251102.8_Missense_Mutation_p.D749G			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	749					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATAGAGAAAATCCAAGGGCAG	0.587000													17	12					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													5	24					0.000602214	0.000611356	1	1	0
PA2G4	5036	broad.mit.edu	37	12	56500804	56500804	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:56500804A>G	ENST00000303305.6	+	3	667	c.248A>G	c.(247-249)aAt>aGt	p.N83S	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.N64S|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.N83S	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	83					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			ATTTCGGTAAATAACTGTGTA	0.428000													29	69					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86090551	86090551	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:86090551A>G	ENST00000377332.3	-	2	248	c.140T>C	c.(139-141)cTg>cCg	p.L47P	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L19P|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L24P|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L47P|ST3GAL5_ENST00000484728.1_5'UTR	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	47					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTACCATTGCAGGGAAGGCCT	0.512000													15	56					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13109990	13109990	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:13109990G>C	ENST00000319217.7	-	45	6150	c.5903C>G	c.(5902-5904)aCt>aGt	p.T1968S	MPDZ_ENST00000536827.1_Missense_Mutation_p.T1906S|MPDZ_ENST00000447879.1_Missense_Mutation_p.T1935S|MPDZ_ENST00000381022.2_Missense_Mutation_p.T1939S|MPDZ_ENST00000541718.1_Missense_Mutation_p.T1939S|MPDZ_ENST00000541093.1_Missense_Mutation_p.T202S|MPDZ_ENST00000381015.4_Missense_Mutation_p.T1968S|MPDZ_ENST00000546205.1_Missense_Mutation_p.T1982S|MPDZ_ENST00000538841.1_Missense_Mutation_p.T827S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1968					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCAGCCCAGTGAAAGAAAG	0.453000													12	22					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42853520	42853520	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42853520G>A	ENST00000200557.6	+	18	1680	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	ADAM11_ENST00000535346.1_Missense_Mutation_p.R304Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	504	Disintegrin.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTGTCCTGCCGAGAGGCCGTG	0.697000													62	77					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268955	1268955	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1268955G>A	ENST00000339381.5	+	6	1702	c.1670G>A	c.(1669-1671)cGc>cAc	p.R557H		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	557					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGCTTCCGCCGCAGGTCTCGG	0.657000													11	31					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4359177	4359177	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4359177C>T	ENST00000599840.1	+	12	1379	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	MPND_ENST00000359935.4_Silent_p.F398F|MPND_ENST00000262966.8_Silent_p.F418F			Q8N594	MPND_HUMAN	MPN domain containing	418							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGAGTTCTACAAGGGTT	0.612000													31	38					0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197894	12197894	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:12197894A>T	ENST00000379033.3	+	6	661	c.514A>T	c.(514-516)Aag>Tag	p.K172*	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Nonsense_Mutation_p.K194*|SEC61A2_ENST00000379020.4_Nonsense_Mutation_p.K194*|SEC61A2_ENST00000304267.8_Nonsense_Mutation_p.K194*	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	194						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CATTGTCTGGAAGGCCTTTAG	0.512000													45	91					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10107147	10107147	+	Missense_Mutation	SNP	C	C	A	rs35817402		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10107147C>A	ENST00000287647.3	+	24	2331	c.2238C>A	c.(2236-2238)aaC>aaA	p.N746K	FANCD2_ENST00000383806.1_Missense_Mutation_p.N746K|FANCD2_ENST00000383807.1_Missense_Mutation_p.N746K|FANCD2_ENST00000419585.1_Missense_Mutation_p.N746K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	746					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GACAGCATAACGGAAACTTGG	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	63					2.35188e-11	2.48177e-11	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91712680	91712680	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:91712680T>G	ENST00000359028.2	+	34	8618	c.8393T>G	c.(8392-8394)cTg>cGg	p.L2798R	AKAP9_ENST00000358100.2_Missense_Mutation_p.L2798R|AKAP9_ENST00000356239.3_Missense_Mutation_p.L2786R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2798					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATGGGACTCTGAAGATCAGT	0.393000			T	BRAF	papillary thyroid								37	54					0	0	1	0	0
TAPT1	202018	broad.mit.edu	37	4	16175863	16175863	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16175863C>G	ENST00000405303.2	-	11	1283	c.1200G>C	c.(1198-1200)cgG>cgC	p.R400R	TAPT1_ENST00000304584.8_Silent_p.R181R|TAPT1_ENST00000399920.3_Silent_p.R289R	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	400						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						AGCCCATCCTCCGTGCTACAG	0.328000													5	4					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68009695	68009695	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:68009695G>A	ENST00000268793.4	-	10	1888	c.1515C>T	c.(1513-1515)atC>atT	p.I505I		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	480					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TGAAGGTTGGGATGGTGGCAG	0.582000													12	3					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74836783	74836783	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74836783C>T	ENST00000346246.5	+	2	737	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCTTCTGTCTCCACAGCAGGA	0.522000													11	30					0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1257191	1257191	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:1257191G>A	ENST00000300952.2	+	8	1842	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	MIDN_ENST00000591446.2_Missense_Mutation_p.G443S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	443						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGCCTCCGGCTTGGGCCT	0.682000													29	18					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32230088	32230088	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:32230088G>A	ENST00000536766.1	+	22	2145	c.1974G>A	c.(1972-1974)ggG>ggA	p.G658G	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000400246.1_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACCTCTGGGGTATGGGAAGG	0.552000													26	15					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10106445	10106445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10106445G>C	ENST00000287647.3	+	23	2147	c.2054G>C	c.(2053-2055)gGa>gCa	p.G685A	FANCD2_ENST00000383806.1_Missense_Mutation_p.G685A|FANCD2_ENST00000383807.1_Missense_Mutation_p.G685A|FANCD2_ENST00000419585.1_Missense_Mutation_p.G685A	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	685					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCACTGTACGGACTGGAAGAA	0.498000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				28	97					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17600979	17600979	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17600979C>T	ENST00000377813.1	-	18	3847	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	RRBP1_ENST00000377807.2_Missense_Mutation_p.E749K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E523K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E749K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E1182K|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1182					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTTAGCTTCTCTACAATCTCT	0.517000													56	89					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643027	6643027	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:6643027T>C	ENST00000299441.3	-	21	10291	c.9880A>G	c.(9880-9882)Acg>Gcg	p.T3294A	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3294					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGCTCCGTGTCATCAGGT	0.667000													9	11					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383229	41383229	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41383229A>G	ENST00000301146.4	-	7	1568	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.F292L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	343						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGTCCTCAAACTTGGGCTGC	0.542000													51	65					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146071800	146071800	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:146071800G>C	ENST00000454497.2	-	13	1066	c.929C>G	c.(928-930)tCa>tGa	p.S310*	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Nonsense_Mutation_p.S375*	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	374							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGGTAGTGCTGATGGGGCTTT	0.423000													16	70					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34791100	34791100	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:34791100C>A	ENST00000192788.5	+	4	484	c.313C>A	c.(313-315)Ccc>Acc	p.P105T	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P105T	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	105										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGACAGTCTCCCATTGCCCT	0.418000													46	211					1.19451e-25	1.30688e-25	1	1	0
BTBD10	84280	broad.mit.edu	37	11	13410595	13410595	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:13410595G>T	ENST00000278174.5	-	9	1456	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y	BTBD10_ENST00000528120.1_Missense_Mutation_p.S356Y|BTBD10_ENST00000530907.1_Missense_Mutation_p.S412Y	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	404						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTTCTCCCAGGACATTCGAAT	0.448000													43	105					1.7489e-18	1.87133e-18	1	1	0
C12orf36	283422	broad.mit.edu	37	12	13526188	13526188	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:13526188C>G	ENST00000318426.2	-	3	584	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	C12orf36_ENST00000527705.2_Missense_Mutation_p.E123Q					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ACATCTTCCTCAATTTTCTGC	0.408000													30	95					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47953951	47953951	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:47953951G>A	ENST00000318711.7	+	12	1650	c.1467G>A	c.(1465-1467)ggG>ggA	p.G489G	DIP2A_ENST00000457905.3_Silent_p.G488G|DIP2A_ENST00000427143.2_Silent_p.G424G|DIP2A_ENST00000466639.1_Silent_p.G445G|DIP2A_ENST00000417564.2_Silent_p.G488G|DIP2A_ENST00000400274.1_Silent_p.G484G|DIP2A_ENST00000435722.3_Silent_p.G488G	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	488					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGATTGATGGGAAGCATCTAG	0.562000													4	16					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071531	134071531	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:134071531T>C	ENST00000264360.5	+	1	1062	c.236T>C	c.(235-237)aTa>aCa	p.I79T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACGAGAAAATAGACCGCGAA	0.552000													28	68					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149024	61149024	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:61149024C>T	ENST00000295025.8	+	11	1534	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V	REL_ENST00000394479.3_Missense_Mutation_p.A373V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GCCTCAATGGCACCTCTGCCT	0.507000			A		Hodgkin Lymphoma								26	67					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40123217	40123217	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:40123217T>C	ENST00000261435.6	+	9	3902	c.3486T>C	c.(3484-3486)atT>atC	p.I1162I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1162						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGAAAGAAATTATTAGCCAAA	0.378000													30	73					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111714085	111714085	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:111714085A>G	ENST00000435970.1	-	7	1238	c.422T>C	c.(421-423)aTa>aCa	p.I141T	REV3L_ENST00000368802.3_Missense_Mutation_p.I219T|REV3L_ENST00000368805.1_Missense_Mutation_p.I219T|REV3L_ENST00000358835.3_Missense_Mutation_p.I219T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	219					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACCTTGGTATTTCATCTTG	0.313000								DNA polymerases (catalytic subunits)					40	17					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7707855	7707855	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:7707855G>C	ENST00000338316.4	+	9	1394	c.1305G>C	c.(1303-1305)ttG>ttC	p.L435F	ADCY2_ENST00000537121.1_Missense_Mutation_p.L255F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	435					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGAGCACTTGAATGGCGCTT	0.408000													90	56					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207644106	207644106	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207644106T>C	ENST00000367057.3	+	7	1436	c.1247T>C	c.(1246-1248)aTc>aCc	p.I416T	CR2_ENST00000458541.2_Missense_Mutation_p.I416T|CR2_ENST00000367058.3_Missense_Mutation_p.I416T|CR2_ENST00000367059.3_Missense_Mutation_p.I416T	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	416	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCTCCTAACATCCTCAATGGG	0.408000													16	41					0	0	1	0	0
ISPD	729920	broad.mit.edu	37	7	16415851	16415851	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:16415851G>A	ENST00000407010.2	-	3	549	c.550C>T	c.(550-552)Cga>Tga	p.R184*	ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	184					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAAGAGGTCGAATGGCTCCT	0.433000										Multiple Myeloma(15;0.18)			8	47					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98495469	98495469	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:98495469G>C	ENST00000359863.4	+	8	822	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E205Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E205Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	205					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCGGAGCGTGAGGACAGTGA	0.468000													23	118					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110956514	110956514	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110956514T>C	ENST00000409246.1	+	7	738	c.413T>C	c.(412-414)gTt>gCt	p.V138A	RAD9B_ENST00000392672.4_Missense_Mutation_p.V210A|RAD9B_ENST00000409778.3_Missense_Mutation_p.V141A|RAD9B_ENST00000409300.1_Missense_Mutation_p.V210A|RAD9B_ENST00000409425.1_Missense_Mutation_p.V138A			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	207					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GAGATGTTTGTTGGCTCAGAT	0.289000													10	23					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697446	17697446	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:17697446C>T	ENST00000399080.2	-	1	2260	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	746										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATGTATCCTCGGTTGTTCTG	0.323000													40	15					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30873457	30873457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:30873457G>A	ENST00000378933.1	-	3	502	c.325C>T	c.(325-327)Cct>Tct	p.P109S	TAB3_ENST00000288422.2_Missense_Mutation_p.P109S|TAB3_ENST00000378930.3_Missense_Mutation_p.P109S|TAB3_ENST00000378932.2_Missense_Mutation_p.P109S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	109					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCATGCTGAGGATCAATATGT	0.453000													31	5					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43012728	43012728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:43012728C>T	ENST00000587309.1	-	3	393	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	KIF18B_ENST00000593135.1_Missense_Mutation_p.G124R|KIF18B_ENST00000339151.4_Missense_Mutation_p.G124R|KIF18B_ENST00000590129.1_Missense_Mutation_p.G133R|KIF18B_ENST00000438933.2_Missense_Mutation_p.G124R	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCGGGGTCCCCCTCCCTTCCC	0.627000													29	19					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923389	9923389	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:9923389A>G	ENST00000396573.2	-	10	2207	c.1898T>C	c.(1897-1899)gTa>gCa	p.V633A	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V633A|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V633A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V633A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V633A|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V476A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	633					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)	GAAGGCCCATACAGATACCAT	0.493000													46	16					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77670237	77670237	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:77670237G>A	ENST00000296043.6	+	6	4774	c.3821G>A	c.(3820-3822)gGa>gAa	p.G1274E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1274					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGGTCCTGGATCTAGGTAT	0.423000													66	60					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057737	186057737	+	Splice_Site	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:186057737G>C	ENST00000271588.4	+	63	9806		c.e63-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						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						TCTACCTCTAGAAAATTCTGA	0.338000													9	15					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41319809	41319809	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:41319809A>G	ENST00000361937.3	-	25	3457	c.3033T>C	c.(3031-3033)tgT>tgC	p.C1011C	RP11-540O11.4_ENST00000560178.1_RNA|INO80_ENST00000401393.3_Silent_p.C1011C			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1011	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GACTGGCCACACACAAAAAAG	0.473000													13	37					0	0	1	0	0
FAM181B	220382	broad.mit.edu	37	11	82444591	82444591	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:82444591C>T	ENST00000329203.3	-	1	315	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	61										large_intestine(1)|lung(2)|prostate(1)	4						CGGGTGGCCTCGCGCACGTCC	0.662000													6	4					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528602	94528602	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94528602C>T	ENST00000330836.5	-	3	1215	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	DDX24_ENST00000544005.1_Missense_Mutation_p.D112N|DDX24_ENST00000555054.1_Missense_Mutation_p.D319N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	362	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGCTCTTTATCAAGATTTTCC	0.483000													50	105					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26097944	26097944	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:26097944C>T	ENST00000313735.6	-	15	2037	c.1804G>A	c.(1804-1806)Gga>Aga	p.G602R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	602	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCCACCTCTCCATTGCCAGGG	0.612000													8	14					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545483	234545483	+	Silent	SNP	A	A	C	rs45580232		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234545483A>C	ENST00000344644.5	+	1	384	c.315A>C	c.(313-315)atA>atC	p.I105I	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.I105I	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACAAAGTATATTTTCTCTAT	0.388000													19	73					0	0	1	0	0
RHBDL1	9028	broad.mit.edu	37	16	726418	726418	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:726418C>T	ENST00000219551.2	+	1	344	c.317C>T	c.(316-318)cCg>cTg	p.P106L	RHBDL1_ENST00000352681.3_Missense_Mutation_p.P41L			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	106					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCCCTGGACCCGGCCAAGCTG	0.667000													5	4					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8044493	8044493	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:8044493C>T	ENST00000317276.4	-	23	4003	c.3766G>A	c.(3766-3768)Ggc>Agc	p.G1256S	PER1_ENST00000581082.1_Missense_Mutation_p.G1233S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1256	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCCCCGCCTTGGGCCTCC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					57	156					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40044106	40044106	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:40044106G>C	ENST00000373233.3	-	34	6836	c.6659C>G	c.(6658-6660)tCc>tGc	p.S2220C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2220					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGATGAGCAGGAGAGGTCCAT	0.612000													16	31					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242052811	242052811	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:242052811T>G	ENST00000366548.3	+	16	3043	c.2450T>G	c.(2449-2451)gTc>gGc	p.V817G	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.V817G	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	817	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTGTCCCCAGTCAGAGATAAC	0.373000								Editing and processing nucleases					22	65					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9785587	9785587	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9785587T>C	ENST00000383829.2	+	8	3039		c.e8+2		BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000457855.1_Splice_Site|BRPF1_ENST00000433861.2_Splice_Site	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAAGCAAAGGTCTGAATCCCA	0.602000													15	20					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063558	48063558	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:48063558C>T	ENST00000316364.5	+	19	3237	c.2798C>T	c.(2797-2799)cCt>cTt	p.P933L	SEMA6D_ENST00000537942.1_Missense_Mutation_p.P871L|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P877L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P914L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P871L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P858L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P871L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P933L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P890L|SEMA6D_ENST00000558816.1_3'UTR	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	933					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACTCCCCTCCTTCAACTCTC	0.517000													48	127					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390828	107390828	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:107390828C>T	ENST00000429433.2	-	5	2216	c.1567G>A	c.(1567-1569)Ggt>Agt	p.G523S	BEND3_ENST00000369042.1_Missense_Mutation_p.G523S	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	523										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGCGGCGACCCGGCCGCTCG	0.637000													26	9					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008896	65008896	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65008896G>A	ENST00000247207.6	+	1	1711	c.1329G>A	c.(1327-1329)gtG>gtA	p.V443V	HSPA2_ENST00000394709.1_Silent_p.V443V	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	443					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCGTACTGGTGCAGGTATACG	0.607000													13	82					0	0	1	0	0
SCCPDH	51097	broad.mit.edu	37	1	246927628	246927628	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:246927628T>C	ENST00000366510.3	+	10	1447	c.1071T>C	c.(1069-1071)aaT>aaC	p.N357N		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	357						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ACAAACCAAATATCAAAATTT	0.383000													33	38					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647749	54647749	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54647749A>G	ENST00000406403.1	+	5	1869	c.266A>G	c.(265-267)gAa>gGa	p.E89G	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E89G			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	89					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGCAAATGGAACGGTTCAAA	0.557000													33	56					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24578652	24578652	+	Missense_Mutation	SNP	C	C	T	rs144821029		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:24578652C>T	ENST00000319715.4	+	15	2210	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	RBBP6_ENST00000348022.2_Missense_Mutation_p.P593L|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	593					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)		GGCCAGCCACCACCCGCTGGG	0.552000													145	65					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62301534	62301534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62301534C>A	ENST00000378024.4	-	5	629	c.355G>T	c.(355-357)Gag>Tag	p.E119*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	119					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)				TGGTACTCCTCATCATCCCCG	0.602000													11	22					3.86212e-05	3.9659e-05	1	1	0
PPP2R1B	5519	broad.mit.edu	37	11	111636068	111636068	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111636068A>G	ENST00000527614.1	-	2	220	c.155T>C	c.(154-156)cTa>cCa	p.L52P	PPP2R1B_ENST00000311129.5_Missense_Mutation_p.L52P|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.L52P|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.L52P	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	52							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCCAAGTGCTAGGGCAATTGT	0.363000													48	92					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77210968	77210968	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:77210968G>C	ENST00000253506.5	+	5	1973	c.1604G>C	c.(1603-1605)gGa>gCa	p.G535A	NFATC1_ENST00000586434.1_Missense_Mutation_p.G522A|NFATC1_ENST00000427363.2_Missense_Mutation_p.G535A|NFATC1_ENST00000542384.1_Missense_Mutation_p.G535A|NFATC1_ENST00000591814.1_Missense_Mutation_p.G535A|NFATC1_ENST00000587635.1_Missense_Mutation_p.G535A|NFATC1_ENST00000329101.4_Missense_Mutation_p.G522A|NFATC1_ENST00000397790.2_Missense_Mutation_p.G63A|NFATC1_ENST00000318065.5_Missense_Mutation_p.G522A|NFATC1_ENST00000592223.1_Missense_Mutation_p.G522A|NFATC1_ENST00000545796.1_Missense_Mutation_p.G63A	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	535	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GACTGTGCCGGAATCCTGAAA	0.562000													46	81					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27059194	27059194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27059194C>T	ENST00000324856.7	+	4	2202	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q228*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q611*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATTTGGGTCTCAGGCATCCTC	0.478000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								19	69					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105685546	105685546	+	Silent	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105685546G>C	ENST00000546474.1	-	13	16360	c.1401C>G	c.(1399-1401)gcC>gcG	p.A467A	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000327359.3_Silent_p.A352A|BRF1_ENST00000440513.3_Silent_p.A374A|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000392557.4_Silent_p.A263A|BRF1_ENST00000446501.2_Silent_p.A229A|BRF1_ENST00000379937.2_Silent_p.A440A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	467					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTTCACGCGGGCTTCCGACT	0.647000													32	57					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150471769	150471769	+	Splice_Site	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150471769G>T	ENST00000369064.3	+	13	1651	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	TARS2_ENST00000606933.1_Splice_Site_p.K457N|TARS2_ENST00000369054.2_Splice_Site_p.K409N|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	539					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ATGGACCTAAGGTAAGCTTGG	0.373000													48	80					2.24722e-20	2.42881e-20	1	1	0
IRAK1BP1	134728	broad.mit.edu	37	6	79577521	79577521	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:79577521C>T	ENST00000369940.2	+	1	333	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	76	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		GAGTGAGCAGCACCAAGGAGG	0.627000													19	4					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4702231	4702231	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:4702231C>T	ENST00000540757.2	+	4	342	c.182C>T	c.(181-183)gCg>gTg	p.A61V	DYRK4_ENST00000010132.5_Missense_Mutation_p.A61V|DYRK4_ENST00000543431.1_Missense_Mutation_p.A61V	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	61			A -> T (in dbSNP:rs12306130).			Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGGGCTACGCGGAGCTGTGG	0.458000													29	101					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32382783	32382783	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:32382783G>T	ENST00000357033.4	-	36	5276	c.5070C>A	c.(5068-5070)caC>caA	p.H1690Q	DMD_ENST00000378677.2_Missense_Mutation_p.H1686Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1690	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTTGTGATGTGGTCCACAT	0.363000													52	12					1.35964e-18	1.45773e-18	1	1	0
MYO16	23026	broad.mit.edu	37	13	109858981	109858981	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:109858981G>C	ENST00000356711.2	+	35	5500	c.5374G>C	c.(5374-5376)Gag>Cag	p.E1792Q	MYO16_ENST00000357550.2_Missense_Mutation_p.E1792Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1792					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAGGCTCTCAGAGAATGAAAG	0.512000													18	100					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57542432	57542432	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:57542432C>T	ENST00000311180.8	+	1	429	c.326C>T	c.(325-327)tCa>tTa	p.S109L	PDE12_ENST00000487257.1_Missense_Mutation_p.S109L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	109							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCGGCCTGTTCAGGGCCGGGG	0.657000													20	12					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56598036	56598036	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:56598036G>A	ENST00000394672.3	+	4	497	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000436465.2_Missense_Mutation_p.E143K|CCDC66_ENST00000538560.1_Missense_Mutation_p.E143K|CCDC66_ENST00000326595.7_Missense_Mutation_p.E109K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	143										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CATCACAGCTGAAAACATGAA	0.393000													23	29					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517279	195517279	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:195517279G>A	ENST00000463781.3	-	2	1631	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S391L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	396					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAACACCTTTGATGTTACCAG	0.453000													104	86					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615332	73615332	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:73615332G>A	ENST00000261917.3	-	8	4095	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1034	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGTTCTTGGGGGGCCTGGGC	0.721000													3	3					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131530659	131530659	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:131530659T>A	ENST00000401867.1	-	15	2065	c.1497A>T	c.(1495-1497)acA>acT	p.T499T	P4HA2_ENST00000166534.4_Silent_p.T499T|P4HA2_ENST00000379086.1_Silent_p.T497T|P4HA2_ENST00000379100.2_Silent_p.T497T|P4HA2_ENST00000360568.3_Silent_p.T497T|P4HA2_ENST00000379104.2_Silent_p.T499T			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	499	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CAGCATGTCTTGTTCGGTAGT	0.532000													21	49					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103465928	103465928	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:103465928G>A	ENST00000361246.2	-	5	858	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	190	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCTGATGGATGGAGTCAATGG	0.448000													54	85					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455102	84455102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:84455102G>A	ENST00000377084.2	-	1	1426	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	181						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGTCGAGGTGGGTGATGGGC	0.537000													55	97					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150483166	150483166	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:150483166C>T	ENST00000354546.5	-	25	2154	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ANXA6_ENST00000377751.5_Missense_Mutation_p.E300K|ANXA6_ENST00000521512.1_Missense_Mutation_p.E430K|ANXA6_ENST00000523714.1_Missense_Mutation_p.E611K|ANXA6_ENST00000356496.5_Missense_Mutation_p.E637K	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	643						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATATTTCTCAATGAATTCC	0.507000													7	15					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201984414	201984414	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:201984414G>T	ENST00000359651.3	+	8	4271	c.1079G>T	c.(1078-1080)gGc>gTc	p.G360V	ELF3_ENST00000367283.3_Missense_Mutation_p.G360V|ELF3_ENST00000367284.5_Missense_Mutation_p.G360V|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	360					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						AACTCAAGCGGCTGGAAGGAG	0.552000													7	33					0.0293803	0.0294354	1	1	0
AFTPH	54812	broad.mit.edu	37	2	64779951	64779951	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:64779951T>C	ENST00000422803.1	+	2	1657	c.1343T>C	c.(1342-1344)tTt>tCt	p.F448S	AFTPH_ENST00000409183.1_Missense_Mutation_p.F79S|AFTPH_ENST00000238855.7_Missense_Mutation_p.F448S|AFTPH_ENST00000409933.1_Missense_Mutation_p.F448S|AFTPH_ENST00000238856.4_Missense_Mutation_p.F448S			Q6ULP2	AFTIN_HUMAN	aftiphilin	448					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACTCCACCTTTTGTTACTGGT	0.398000													40	135					0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377621	54377621	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54377621A>C	ENST00000391769.2	+	3	1118	c.838A>C	c.(838-840)Agc>Cgc	p.S280R	MYADM_ENST00000391771.1_Missense_Mutation_p.S280R|MYADM_ENST00000391768.2_Missense_Mutation_p.S280R|MYADM_ENST00000336967.3_Missense_Mutation_p.S280R|MYADM_ENST00000391770.4_Missense_Mutation_p.S280R	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	280	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGTAAGCTGCAGCCGCAGCCA	0.617000													15	52					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	89					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713401	142713401	+	RNA	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:142713401A>G	ENST00000610091.1	-	0	2257																											GTTGTTCAGTAAGAAACTCAT	0.313000													19	22					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75498410	75498410	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:75498410G>A	ENST00000360639.2	+	2	341	c.21G>A	c.(19-21)ctG>ctA	p.L7L	C15orf39_ENST00000567617.1_Silent_p.L7L|C15orf39_ENST00000394987.4_Silent_p.L7L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	7										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCGACCCCTGAGAACCCTGG	0.602000													11	8					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5445293	5445293	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:5445293C>T	ENST00000345221.3	-	6	3137	c.2583G>A	c.(2581-2583)ctG>ctA	p.L861L	NLRP1_ENST00000354411.3_Silent_p.L861L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.L861L|NLRP1_ENST00000572272.1_Silent_p.L861L|NLRP1_ENST00000269280.4_Silent_p.L861L|NLRP1_ENST00000577119.1_Silent_p.L861L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	861					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTTGGCTCTCAGCCCAAAGG	0.572000													7	22					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1235580	1235580	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1235580G>A	ENST00000354700.5	-	7	727	c.525C>T	c.(523-525)atC>atT	p.I175I	ACAP3_ENST00000353662.3_Silent_p.I133I	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	175					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCAGAACATTGATCTGCCAGA	0.632000													13	15					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113171084	113171084	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:113171084T>C	ENST00000401783.2	-	38	7132	c.6796A>G	c.(6796-6798)Aaa>Gaa	p.K2266E	SVEP1_ENST00000374469.1_Missense_Mutation_p.K2243E|SVEP1_ENST00000297826.5_Missense_Mutation_p.K192E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2266	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGGGAGGTTTTCCACAGTCG	0.488000													37	123					0	0	1	0	0
SYPL1	6856	broad.mit.edu	37	7	105752637	105752637	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:105752637G>A	ENST00000455385.2	-	1	140	c.18C>T	c.(16-18)atC>atT	p.I6I	SYPL1_ENST00000470347.1_Silent_p.I6I|SYPL1_ENST00000011473.2_Silent_p.I24I	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	24					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						GGTTGAGGTTGATCTGGAAGC	0.692000													10	13					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24408602	24408602	+	Silent	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:24408602G>C	ENST00000330966.7	-	18	2334	c.2172C>G	c.(2170-2172)ccC>ccG	p.P724P	MYOM3_ENST00000374434.3_Silent_p.P723P|MYOM3_ENST00000329601.7_Silent_p.P723P|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	723	Fibronectin type-III 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACGACGCTTGGGGGGTTTCC	0.592000													8	18					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040157	88040157	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:88040157A>G	ENST00000319595.4	+	1	312	c.258A>G	c.(256-258)agA>agG	p.R86R		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	86					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATATTGTGAGAGAGAGCTGGA	0.468000													5	79					0	0	1	0	0
FABP5P3	220832	broad.mit.edu	37	7	152139991	152139991	+	RNA	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:152139991A>G	ENST00000477993.1	+	0	746					NR_002935.1																						GGAGCGTGTCATGAACCATGT	0.433000													18	21					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134308042	134308042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:134308042G>A	ENST00000357304.4	+	2	209	c.154G>A	c.(154-156)Gct>Act	p.A52T	PRRC2B_ENST00000458550.1_Missense_Mutation_p.A52T|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A52T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	52							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGGAAAGTTGCTGCAGCCCG	0.522000													17	55					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50571654	50571654	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:50571654T>A	ENST00000547825.1	-	5	1836	c.567A>T	c.(565-567)ccA>ccT	p.P189P	LIMA1_ENST00000394943.3_Silent_p.P492P|LIMA1_ENST00000552783.1_Silent_p.P332P|LIMA1_ENST00000341247.4_Silent_p.P491P|LIMA1_ENST00000552491.1_Silent_p.P188P|LIMA1_ENST00000552909.1_Silent_p.P330P|LIMA1_ENST00000552823.1_Silent_p.P331P	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	491					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTTCTACCCCTGGGCTGTGAG	0.522000													33	107					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673833	30673833	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:30673833G>A	ENST00000376406.3	-	10	3774	c.3127C>T	c.(3127-3129)Cct>Tct	p.P1043S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P779S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1043	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGGGCTTCAGGTACTGTAGGA	0.532000								Other conserved DNA damage response genes					46	36					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064630	7064630	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:7064630C>T	ENST00000456013.1	+	6	971	c.729C>T	c.(727-729)ggC>ggT	p.G243G	PTPN6_ENST00000318974.9_Silent_p.G243G|PTPN6_ENST00000447931.2_Silent_p.G204G|PTPN6_ENST00000399448.1_Silent_p.G245G	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	243					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCAAGGCTGGCTTCTGGGAGG	0.632000													19	109					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12401928	12401928	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:12401928C>T	ENST00000358136.3	+	41	8848	c.8718C>T	c.(8716-8718)acC>acT	p.T2906T	VPS13D_ENST00000356315.4_Silent_p.T2881T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2905					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCACCCTGACCACCACACCCA	0.572000													18	70					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156345	155156345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:155156345C>G	ENST00000357232.4	-	25	8093	c.8094G>C	c.(8092-8094)gtG>gtC	p.V2698V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCGGCAGTCACCATCACAT	0.552000													23	39					0	0	1	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189297	26189297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:26189297C>G	ENST00000340756.2	-	1	7	c.8G>C	c.(7-9)gGc>gCc	p.G3A		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	3					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CTTACCGCGGCCAGACATCTT	0.512000													82	39					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78933912	78933912	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:78933912G>A	ENST00000306801.3	+	30	3874	c.3512G>A	c.(3511-3513)aGt>aAt	p.S1171N	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S1013N	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1171					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGTGTGACGAGTCTGTCCTGT	0.622000													9	54					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11051690	11051690	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:11051690G>A	ENST00000409790.1	+	2	362	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLEC16A_ENST00000409552.3_Silent_p.R44R	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	44										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AACAGAACCGGAACCTGCTAG	0.428000													38	26					0	0	1	0	0
MPDU1	9526	broad.mit.edu	37	17	7490058	7490058	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7490058C>T	ENST00000250124.6	+	4	567	c.351C>T	c.(349-351)tgC>tgT	p.C117C	MPDU1_ENST00000396501.4_Silent_p.C117C|MPDU1_ENST00000423172.2_Intron	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	117					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						TCACCATCTGCTTCCTGGTCA	0.557000													22	61					0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16835002	16835002	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrY:16835002C>T	ENST00000297967.5	+	3	637	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	160					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TCCAGATATTCATGAACAGAA	0.413000													5	40					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911854	101911854	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:101911854T>C	ENST00000537097.1	+	6	3826	c.3013T>C	c.(3013-3015)Tgg>Cgg	p.W1005R	GPRASP1_ENST00000444152.1_Missense_Mutation_p.W1005R|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W1005R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W1005R	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1005	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTGGGGTCCTGGTTCTGGGC	0.512000													87	20					0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74323962	74323962	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:74323962T>C	ENST00000263681.2	+	5	428	c.299T>C	c.(298-300)gTg>gCg	p.V100A	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_Missense_Mutation_p.V61A	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	100					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AGCATCCATGTGTACAGCATC	0.453000													60	74					0	0	1	0	0
DSCR9	257203	broad.mit.edu	37	21	38593563	38593563	+	RNA	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:38593563T>C	ENST00000454482.2	+	0	1170					NR_026719.2																						GTCTGCGATGTAACTGCACCG	0.692000											OREG0026204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	28					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645077	52645077	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:52645077A>T	ENST00000395961.3	-	4	743	c.577T>A	c.(577-579)Ttt>Att	p.F193I	BCAS1_ENST00000371435.2_Missense_Mutation_p.F193I|BCAS1_ENST00000411563.1_Missense_Mutation_p.F96I|BCAS1_ENST00000371440.3_Missense_Mutation_p.F193I	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	193						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTCAAAAAAGCTGGAGTCC	0.562000													74	110					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97114276	97114276	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:97114276G>C	ENST00000524981.4	+	50	6921	c.6898G>C	c.(6898-6900)Gag>Cag	p.E2300Q						chromosome 12 open reading frame 55																		TGGCGAGCTGGAGATTGTGGT	0.587000													5	10					0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98307747	98307747	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98307747C>T	ENST00000371142.4	-	8	1176		c.e8-1		TM9SF3_ENST00000490192.1_Splice_Site	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3							integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGATCCCCTCCTAAAAAGGCA	0.318000													34	42					0	0	1	0	0
C1QL4	338761	broad.mit.edu	37	12	49726986	49726986	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:49726986C>G	ENST00000334221.3	-	2	1278	c.568G>C	c.(568-570)Gac>Cac	p.D190H		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	190	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						TAGTTCTGGTCCGCGTCCTGA	0.637000													11	24					0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105785423	105785423	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105785423A>G	ENST00000369755.3	+	19	4198	c.3653A>G	c.(3652-3654)cAg>cGg	p.Q1218R	SLK_ENST00000335753.4_Missense_Mutation_p.Q1187R	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1218					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCATCAACACAGAGCCGGATT	0.433000													32	26					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158223455	158223455	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:158223455C>T	ENST00000313708.6	-	9	1089	c.807G>A	c.(805-807)ccG>ccA	p.P269P	EBF1_ENST00000380654.4_Silent_p.P238P|EBF1_ENST00000517373.1_Silent_p.P261P|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	269	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding	p.P269P(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTCACTCGGGCTGATGG	0.463000			T	HMGA2	lipoma								30	7					0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105477759	105477759	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105477759C>G	ENST00000336219.3	-	2	663	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	CDCA4_ENST00000392590.3_Missense_Mutation_p.E170Q	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	170						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TTTTTAGTCTCCAGCGTTTCA	0.547000													7	70					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40415995	40415995	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:40415995G>A	ENST00000333407.6	+	3	856	c.762G>A	c.(760-762)gtG>gtA	p.V254V	FAM83F_ENST00000473717.1_Silent_p.V86V	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GTGACAAAGTGGCCACTGGAT	0.587000													41	20					0	0	1	0	0
UQCRB	7381	broad.mit.edu	37	8	97244136	97244136	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:97244136C>T	ENST00000287022.5	-	3	227	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	UQCRB_ENST00000517523.1_Missense_Mutation_p.E10K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E42K|UQCRB_ENST00000518406.1_Missense_Mutation_p.E42K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	42					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TTTACATCTTCATCCTCGTAT	0.363000													32	35					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712961	218712961	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:218712961C>T	ENST00000171887.4	-	17	2356	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	TNS1_ENST00000430930.1_Missense_Mutation_p.R635Q|TNS1_ENST00000419504.1_Missense_Mutation_p.R635Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	635						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCTTCCCCCTCGGACCGGAGC	0.642000													6	59					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24084129	24084129	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24084129G>C	ENST00000253039.4	+	8	1040	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	263						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TAGATCTTTTGATGTCAACAA	0.308000													27	46					0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168667	60168667	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:60168667C>G	ENST00000261187.4	+	4	755	c.591C>G	c.(589-591)ccC>ccG	p.P197P	SLC16A7_ENST00000547379.1_Silent_p.P197P|SLC16A7_ENST00000552024.1_Silent_p.P197P|SLC16A7_ENST00000543448.1_Silent_p.P98P|SLC16A7_ENST00000552432.1_Silent_p.P197P	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	197						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TCATGAGACCCCTTGGACCCA	0.403000													30	18					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62553845	62553845	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62553845C>T	ENST00000294168.3	+	10	1275	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	358					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GACACAAAGTCTATGGAGCCA	0.512000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	123					0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246314	33246314	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33246314T>A	ENST00000451237.1	+	1	1398	c.1118T>A	c.(1117-1119)aTa>aAa	p.I373K		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	373					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TGTCGAGCAATAGCCTGGCTT	0.637000													19	121					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95848916	95848916	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:95848916A>G	ENST00000371375.1	+	1	65	c.65A>G	c.(64-66)cAc>cGc	p.H22R	PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.H22R|PLCE1_ENST00000371380.3_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGCAGCTCCACGTGAGATTC	0.522000													25	56					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45414407	45414407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:45414407T>C	ENST00000396128.4	-	2	844	c.725A>G	c.(724-726)cAt>cGt	p.H242R	KLHL28_ENST00000355081.2_Missense_Mutation_p.H256R	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	242										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACGAATAAGATGATTTGCTTC	0.373000													24	66					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69182123	69182123	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:69182123T>C	ENST00000344157.4	-	16	2203	c.1868A>G	c.(1867-1869)tAt>tGt	p.Y623C	YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y631C|YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y605C	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	623	Pro-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATGGTGCTGATAGTAAGGATG	0.448000													68	72					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131568173	131568173	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568173C>T	ENST00000372648.5	+	10	1104	c.954C>T	c.(952-954)ttC>ttT	p.F318F	TBC1D13_ENST00000539497.1_Silent_p.F137F|TBC1D13_ENST00000223865.8_Silent_p.F193F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	318	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TCTTTGCCTTCCGCTGGCTGA	0.607000													16	13					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99083499	99083499	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:99083499A>C	ENST00000376586.2	+	18	2444	c.2108A>C	c.(2107-2109)cAc>cCc	p.H703P	FARP1_ENST00000595437.1_Missense_Mutation_p.H703P|FARP1_ENST00000319562.6_Missense_Mutation_p.H703P			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	703	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCAAACACCACCCGCCGAGC	0.647000													4	10					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617616	54617616	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:54617616G>T	ENST00000302287.3	+	4	793	c.387G>T	c.(385-387)gtG>gtT	p.V129V	VSTM2A_ENST00000407838.3_Silent_p.V129V|VSTM2A_ENST00000402026.2_Silent_p.V128V|VSTM2A_ENST00000402613.3_Silent_p.V129V|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Silent_p.V129V			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	129	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AGTGCAGGGTGACTGATGCCA	0.493000													6	28					0.248553	0.248553	1	1	0
ANAPC4	29945	broad.mit.edu	37	4	25384988	25384988	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:25384988A>G	ENST00000315368.3	+	4	483	c.341A>G	c.(340-342)cAt>cGt	p.H114R	ANAPC4_ENST00000510092.1_Missense_Mutation_p.H114R	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCCTGTATGCATTGGATGGAA	0.363000													18	55					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758255	25758255	+	RNA	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:25758255C>T	ENST00000586223.1	+	0	2689					NR_033892.1																						GGACAAGCAGCAGTGCGCTTC	0.572000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	16					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61749497	61749497	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:61749497T>G	ENST00000423902.2	+	17	4590	c.4111T>G	c.(4111-4113)Tta>Gta	p.L1371V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1371	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCAGGAGGTTTAGGCATTAA	0.488000													33	95					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8538598	8538598	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:8538598A>G	ENST00000262648.3	-	7	1153	c.1004T>C	c.(1003-1005)aTg>aCg	p.M335T		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	335	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACTGCTGACCATCCAGCTCCA	0.517000													14	4					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337465	41337465	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:41337465T>C	ENST00000551295.2	+	13	1563	c.1446T>C	c.(1444-1446)taT>taC	p.Y482Y	CNTN1_ENST00000348761.2_Silent_p.Y471Y|CNTN1_ENST00000547702.1_Silent_p.Y482Y|CNTN1_ENST00000547849.1_Silent_p.Y482Y|CNTN1_ENST00000360099.3_Silent_p.Y482Y|CNTN1_ENST00000347616.1_Silent_p.Y482Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	482	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGTATCTATACATGCTTTG	0.333000													18	55					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94156520	94156520	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94156520G>A	ENST00000553484.1	+	47	7480	c.7326G>A	c.(7324-7326)ctG>ctA	p.L2442L	UNC79_ENST00000393151.2_Silent_p.L2420L|UNC79_ENST00000256339.4_Silent_p.L2243L|UNC79_ENST00000555664.1_Silent_p.L2381L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2420						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCTGCTGCTGGGTTCCCTCA	0.473000													41	63					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90015915	90015915	+	Translation_Start_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:90015915G>A	ENST00000563594.1	+	0	981				DEF8_ENST00000569453.1_De_novo_Start_OutOfFrame|DEF8_ENST00000570182.1_De_novo_Start_OutOfFrame|DEF8_ENST00000418391.2_De_novo_Start_OutOfFrame|DEF8_ENST00000563795.1_De_novo_Start_OutOfFrame|DEF8_ENST00000268676.7_Silent_p.A14A|DEF8_ENST00000567874.1_De_novo_Start_OutOfFrame	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)						intracellular signal transduction		zinc ion binding	p.A14A(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCTGGCAGGCGATGCAGGTAT	0.662000													21	24					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41086561	41086561	+	Splice_Site	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41086561A>G	ENST00000291842.5	+	8	701	c.652A>G	c.(652-654)Agg>Ggg	p.R218G	SHKBP1_ENST00000600733.1_Splice_Site_p.R218G	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	218						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTGCTACAGGTGCTTGGG	0.582000													30	62					0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430092	44430092	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:44430092A>G	ENST00000372622.3	+	6	561	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	165						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CCCCCTTCCTAAAAAGGTAAA	0.527000													22	120					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16265886	16265886	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:16265886C>T	ENST00000375759.3	+	15	11163	c.10959C>T	c.(10957-10959)atC>atT	p.I3653I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3653	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCCAACATCTCTCCCCACC	0.557000													57	138					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345689	92345689	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:92345689G>A	ENST00000377067.3	+	3	946	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	192						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGAATACTCAGAATGCATCCG	0.483000													57	111					0	0	1	0	0
CHMP1B	57132	broad.mit.edu	37	18	11852005	11852005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:11852005C>G	ENST00000526991.2	+	1	611	c.495C>G	c.(493-495)aaC>aaG	p.N165K	GNAL_ENST00000269162.5_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000423027.3_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	165					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						TCGACCTCAACATGGAGCTGC	0.627000													16	15					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100380990	100380990	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:100380990T>C	ENST00000262233.6	+	15	1847	c.1708T>C	c.(1708-1710)Tgg>Cgg	p.W570R	EML1_ENST00000327921.9_Missense_Mutation_p.W558R|EML1_ENST00000334192.4_Missense_Mutation_p.W589R	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	570						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCCACTCTCTGGGACGCTGT	0.463000													18	36					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100862212	100862212	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:100862212C>T	ENST00000341469.2	-	3	547		c.e3+1		TRIM14_ENST00000375098.3_Splice_Site|TRIM14_ENST00000342043.3_Splice_Site	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14							cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CCCAGCATTACCTGAAGCCTC	0.502000													29	21					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:110434606T>G	ENST00000375856.3	-	1	4309	c.3795A>C	c.(3793-3795)ccA>ccC	p.P1265P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.701000													11	24					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658510	49658510	+	Translation_Start_Site	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49658510G>T	ENST00000252825.4	-	0	171					NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein						muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CGGACAGGCAGCACTGGCTCC	0.612000													14	13					9.31168e-06	9.61728e-06	1	1	0
UBR4	23352	broad.mit.edu	37	1	19439182	19439182	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19439182G>A	ENST00000375267.2	-	78	11640	c.11637C>T	c.(11635-11637)gtC>gtT	p.V3879V	UBR4_ENST00000375254.3_Silent_p.V3879V|UBR4_ENST00000375226.2_Silent_p.V3855V|UBR4_ENST00000375217.2_Silent_p.V3872V|UBR4_ENST00000375218.3_3'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3879					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AATGTTCTGTGACAGCCGAGG	0.582000													44	112					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								29	13					0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58368279	58368279	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:58368279G>C	ENST00000463280.1	+	2	232	c.141G>C	c.(139-141)ttG>ttC	p.L47F	PXK_ENST00000536660.1_Intron|PXK_ENST00000383716.3_Missense_Mutation_p.L47F|PXK_ENST00000484288.1_Missense_Mutation_p.L80F|PXK_ENST00000302779.5_Missense_Mutation_p.L63F|PXK_ENST00000479241.1_Missense_Mutation_p.L63F|PXK_ENST00000356151.2_Missense_Mutation_p.L80F|PXK_ENST00000383715.4_Missense_Mutation_p.L63F			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	80	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCAAAAAATTGATTGGTAACA	0.343000													6	48					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101037582	101037582	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:101037582A>T	ENST00000369162.2	-	36	5822	c.5478T>A	c.(5476-5478)caT>caA	p.H1826Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1826	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAACTGTTTGATGCTTCAAAT	0.348000													89	36					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156979626	156979626	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:156979626G>T	ENST00000348165.5	+	10	1602	c.1242G>T	c.(1240-1242)agG>agT	p.R414S	UBE3C_ENST00000389103.4_Missense_Mutation_p.R371S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	414					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGGTGTGGAGGGACTCTGCGA	0.562000													4	46					0.00909568	0.00914697	1	1	0
HBA1	3039	broad.mit.edu	37	16	227392	227392	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:227392G>A	ENST00000320868.5	+	3	448	c.411G>A	c.(409-411)ctG>ctA	p.L137L	HBA1_ENST00000397797.1_Silent_p.L105L	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN	hemoglobin, alpha 1	137			L -> M (in Chicago).|L -> P (in Bibba; unstable; causes alpha- thalassemia).|L -> R (in Toyama).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			lung(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	GCACCGTGCTGACCTCCAAAT	0.672000											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	10					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41913629	41913629	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:41913629C>G	ENST00000396512.3	+	7	1026	c.1009C>G	c.(1009-1011)Cgg>Ggg	p.R337G	ACO2_ENST00000216254.4_Missense_Mutation_p.R312G|ACO2_ENST00000466237.1_3'UTR			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	312					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CAAGACCGGCCGGGAAGGTGA	0.592000											OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	15					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608824	608824	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:608824G>A	ENST00000264555.5	+	14	3496	c.3368G>A	c.(3367-3369)tGc>tAc	p.C1123Y	PHRF1_ENST00000533464.1_Missense_Mutation_p.C1119Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.C1122Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.C1121Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1123	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAAGGGAGTGCTCCCCCACC	0.632000													4	29					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62939693	62939693	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:62939693G>C	ENST00000251157.5	-	47	6172	c.6139C>G	c.(6139-6141)Cat>Gat	p.H2047D	DOCK7_ENST00000489185.1_5'UTR|DOCK7_ENST00000340370.5_Missense_Mutation_p.H2027D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2058	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTTTATTATGATGTCTGAAG	0.368000													14	29					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995374	120995374	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:120995374T>C	ENST00000325954.4	+	6	1317	c.856T>C	c.(856-858)Tat>Cat	p.Y286H	RNF10_ENST00000413266.2_Missense_Mutation_p.Y286H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	286					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCACATCAGTATGTTGTTGG	0.448000													38	77					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660532	90660532	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:90660532C>T	ENST00000257749.4	-	7	2000	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.V431V|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.V431V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	431						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGAGAAGATCACGCTCCTCC	0.592000													59	14					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906306	56906306	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:56906306A>G	ENST00000438926.2	+	7	925	c.896A>G	c.(895-897)aAc>aGc	p.N299S	SLC12A3_ENST00000262502.5_Missense_Mutation_p.N298S|SLC12A3_ENST00000563236.1_Missense_Mutation_p.N299S|SLC12A3_ENST00000566786.1_Missense_Mutation_p.N298S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	299					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTTTGCCAACTATTTAGTG	0.557000													16	10					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123645916	123645916	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645916C>T	ENST00000606320.1	-	22	3354	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E898K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1020K|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E898K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	898					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTGGCTTTCTCAGAATAAGTT	0.373000													24	69					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105360120	105360120	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105360120T>C	ENST00000453495.1	+	16	4541	c.4313T>C	c.(4312-4314)cTg>cCg	p.L1438P	CEP170B_ENST00000414716.3_Missense_Mutation_p.L1402P|CEP170B_ENST00000418279.1_Missense_Mutation_p.L1332P|CEP170B_ENST00000556508.1_Missense_Mutation_p.L1367P					centrosomal protein 170B																		AACCTGATGCTGAACCCGGTG	0.657000													10	12					0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373000													11	64					2.27111e-07	2.35474e-07	1	1	0
PPP1R3B	79660	broad.mit.edu	37	8	8998903	8998903	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:8998903C>G	ENST00000310455.3	-	2	409	c.259G>C	c.(259-261)Gat>Cat	p.D87H	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.D87H	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	87					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AATGGCATATCTAGCGGGTCA	0.517000													36	66					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119678896	119678896	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:119678896G>T	ENST00000379735.5	-	11	1675	c.1404C>A	c.(1402-1404)acC>acA	p.T468T	SEC24D_ENST00000511481.1_Silent_p.T98T|SEC24D_ENST00000429811.2_Silent_p.T23T|SEC24D_ENST00000419654.2_Silent_p.T23T|SEC24D_ENST00000280551.6_Silent_p.T467T|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	467					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTTCCAGCATGGTCTTCAGTT	0.358000													33	26					2.20262e-25	2.4049e-25	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104897639	104897639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:104897639C>G	ENST00000507740.1	+	2	472	c.236C>G	c.(235-237)tCa>tGa	p.S79*	RIMS2_ENST00000436393.2_Nonsense_Mutation_p.S49*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.S79*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.S271*|RIMS2_ENST00000522174.1_3'UTR	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	302	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATCTCCATCAGATTATGCT	0.418000										HNSCC(12;0.0054)			19	55					0	0	1	0	0
TTL	150465	broad.mit.edu	37	2	113258822	113258822	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:113258822T>C	ENST00000233336.6	+	4	700	c.509T>C	c.(508-510)cTc>cCc	p.L170P		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase		TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCAGAGCTTCTCGATTTCATA	0.458000			T	ETV6	ALL								21	55					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831360	176831360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:176831360C>T	ENST00000253496.3	-	9	903	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	285	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			ACTCCCAGCTCAGCCGGTCGC	0.697000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	4					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19222205	19222205	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222205C>T	ENST00000263200.10	-	7	1066	c.994G>A	c.(994-996)Gat>Aat	p.D332N	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D332N|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D332N	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	332	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAATGTTATCTTCCTCAACA	0.502000			T	?	ALCL								48	30					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206484	55206484	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:55206484A>G	ENST00000201031.2	+	2	515	c.272A>G	c.(271-273)cAc>cGc	p.H91R	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	91	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AACCCCCTGCACCAGCCGGCG	0.741000													3	7					0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76978	76978	+	Missense_Mutation	SNP	G	G	A	rs140898692		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:76978G>A	ENST00000382410.2	+	2	391	c.391G>A	c.(391-393)Gag>Aag	p.E131K	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	131					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CACTACTCCCGAGACTACTAT	0.428000													55	324					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225326	26225326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:26225326G>A	ENST00000056233.3	+	4	2267	c.2008G>A	c.(2008-2010)Gga>Aga	p.G670R		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	670					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TACCCATGATGGAAGTATCTT	0.423000													56	88					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66587451	66587451	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587451C>G	ENST00000319194.5	+	2	277	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	DIS3L_ENST00000441424.2_5'UTR|DIS3L_ENST00000319212.4_Missense_Mutation_p.Q89E	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	89					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAGCTTGTCAAGCTGTGCA	0.433000													28	68					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940120	21940120	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:21940120C>A	ENST00000542643.2	-	10	777		c.e10+1		RAP1GAP_ENST00000374765.4_Splice_Site|RAP1GAP_ENST00000374757.3_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGAGACCTCACCTTTGCCATC	0.597000													28	36					1.16021e-09	1.21708e-09	1	1	0
CYP2C9	1559	broad.mit.edu	37	10	96707616	96707616	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:96707616G>C	ENST00000260682.6	+	4	574	c.562G>C	c.(562-564)Gat>Cat	p.D188H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	188					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TAAACGTTTTGATTATAAAGA	0.383000													28	54					0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216911	154216911	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:154216911C>T	ENST00000338700.5	+	6	1298	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	TRIM2_ENST00000437508.2_Silent_p.N384N|TRIM2_ENST00000494872.1_3'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	384						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCCTGGACAACAAGAACGGCA	0.567000													15	27					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17602568	17602568	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17602568G>C	ENST00000377813.1	-	14	3475	c.3172C>G	c.(3172-3174)Ctg>Gtg	p.L1058V	RRBP1_ENST00000377807.2_Missense_Mutation_p.L625V|RRBP1_ENST00000455029.2_Missense_Mutation_p.L399V|RRBP1_ENST00000360807.4_Missense_Mutation_p.L625V|RRBP1_ENST00000246043.4_Missense_Mutation_p.L1058V|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1058					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCTCAATCAGACAGAGCTGC	0.612000													22	76					0	0	1	0	0
TAPT1	202018	broad.mit.edu	37	4	16164972	16164972	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16164972C>G	ENST00000405303.2	-	14	1746	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.E444Q	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	555						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CTGTCTATCTCTAACAAATCT	0.433000													22	72					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110643430	110643430	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110643430G>C	ENST00000242591.5	+	17	2253	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	IFT81_ENST00000552912.1_Missense_Mutation_p.D583H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	583					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.D583H(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TCGTGCTACTGATGAGATGAA	0.313000													32	75					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1739043	1739043	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:1739043A>G	ENST00000313288.4	+	9	1930	c.1824A>G	c.(1822-1824)gcA>gcG	p.A608A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	608						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCTTGGGAGCACTGGACATTC	0.527000													7	24					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450251	35450251	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35450251C>T	ENST00000404801.1	-	4	894	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ZNF792_ENST00000605484.1_Missense_Mutation_p.E103K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAACTCAGAGCCTTTC	0.502000													132	188					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48771464	48771464	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:48771464C>T	ENST00000314191.2	-	48	6344	c.6288G>A	c.(6286-6288)ctG>ctA	p.L2096L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2096L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2097					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCAGGGCCGTCAGGGGCGCCA	0.577000								Non-homologous end-joining					4	83					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1719917	1719917	+	Missense_Mutation	SNP	C	C	A	rs149256056	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:1719917C>A	ENST00000313871.3	+	5	1714	c.1518C>A	c.(1516-1518)gaC>gaA	p.D506E		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	506					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CAGAGGCCGACGGCGCTCCCA	0.716000													9	32					0.00621372	0.00627234	1	1	0
NTN4	59277	broad.mit.edu	37	12	96077360	96077360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:96077360C>T	ENST00000343702.4	-	6	1756	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	NTN4_ENST00000553059.1_Silent_p.V436V|NTN4_ENST00000344911.4_Silent_p.V399V|NTN4_ENST00000538383.1_Silent_p.V399V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	436	Laminin EGF-like 3.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCCAGTATCCCACCATGCACC	0.597000													12	30					0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11038321	11038321	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:11038321G>A	ENST00000586748.1	-	4	436	c.264C>T	c.(262-264)gaC>gaT	p.D88D	YIPF2_ENST00000590329.1_Silent_p.D88D|YIPF2_ENST00000253031.2_Silent_p.D88D			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	88						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						AGGTGTCCACGTCAAAGAAGC	0.607000													22	25					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70048029	70048029	+	RNA	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:70048029A>G	ENST00000531894.1	-	0	1350					NR_003610.1																						ATTCTTGGAAAAATCTGAACA	0.378000													13	7					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52115497	52115497	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:52115497C>G	ENST00000354534.6	+	12	1981	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	SCN8A_ENST00000550891.1_Silent_p.L601L|SCN8A_ENST00000545061.1_Silent_p.L601L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGACTCCCTCTTCATCCCCA	0.706000													5	11					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65197646	65197646	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65197646C>G	ENST00000247226.7	+	4	836	c.528C>G	c.(526-528)ctC>ctG	p.L176L	PLEKHG3_ENST00000394691.1_Silent_p.L232L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	232	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGCATCCTCAAGTACCACC	0.642000													21	66					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18048081	18048081	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:18048081A>C	ENST00000250018.2	-	6	1321	c.759T>G	c.(757-759)acT>acG	p.T253T	TPH1_ENST00000341556.2_Silent_p.T253T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	253					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCACATATTGAGTGCAGTGAA	0.413000													43	50					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37379640	37379640	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:37379640G>A	ENST00000265107.4	+	2	231	c.75G>A	c.(73-75)atG>atA	p.M25I	WDR70_ENST00000504564.1_Missense_Mutation_p.M25I	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	25										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGTCACCATGGGCTTCACGG	0.622000													30	40					0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128399647	128399647	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128399647G>A	ENST00000409455.1	-	6	1257	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	LIMS2_ENST00000409808.2_Silent_p.L208L|LIMS2_ENST00000545738.2_Silent_p.L235L|LIMS2_ENST00000355119.4_Silent_p.L213L|LIMS2_ENST00000409754.1_Silent_p.L61L|LIMS2_ENST00000409286.1_Silent_p.L61L|LIMS2_ENST00000410038.1_Silent_p.L61L|LIMS2_ENST00000409254.1_Silent_p.L61L|LIMS2_ENST00000410011.1_Silent_p.L208L|LIMS2_ENST00000324938.5_Silent_p.L237L			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	213	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGCTTGCCCAGCGCGTTGACC	0.667000													3	12					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6893118	6893118	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6893118C>T	ENST00000381309.3	+	8	1372	c.807C>T	c.(805-807)ttC>ttT	p.F269F	KDM4C_ENST00000543771.1_Silent_p.F269F|KDM4C_ENST00000442236.2_Silent_p.F88F|KDM4C_ENST00000381306.3_Silent_p.F269F|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Silent_p.F291F|KDM4C_ENST00000536108.1_Silent_p.F88F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	269	JmjC.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTGGAGAATTCATGATCACTT	0.338000													48	56					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670865	131670865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131670865G>A	ENST00000259324.5	+	3	1945	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	LRRC8A_ENST00000372600.4_Silent_p.L474L|LRRC8A_ENST00000372599.3_Silent_p.L474L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	474					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAGGAGCTGTGGCTCTACC	0.622000													5	29					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52089928	52089928	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52089928G>C	ENST00000495880.1	-	1	638	c.455C>G	c.(454-456)tCc>tGc	p.S152C	DUSP7_ENST00000296483.6_Missense_Mutation_p.S101C			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	152	Rhodanese.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGAGCACGGAGGCGGGAGC	0.721000													3	4					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119187	9119187	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:9119187C>T	ENST00000382496.5	-	15	2513	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q		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	616	TSP type-1 2.				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						GCTGCCGCACCTGGAAGCCGA	0.652000													6	12					0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	542					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632000													32	54					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126236524	126236524	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:126236524C>G	ENST00000368357.3	+	12	2494	c.2142C>G	c.(2140-2142)gtC>gtG	p.V714V	NCOA7_ENST00000229634.9_Silent_p.V599V|NCOA7_ENST00000392477.2_Silent_p.V714V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	714					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CTCCCGATGTCTATGGAAAAG	0.453000													81	28					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811787	7811787	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:7811787G>A	ENST00000381059.3	+	3	570	c.351G>A	c.(349-351)gaG>gaA	p.E117E	VCX_ENST00000341408.4_Silent_p.E117E	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	117	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TGAGTCAGGAGAGCGAGGTGG	0.637000													95	48					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84560911	84560911	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:84560911A>G	ENST00000262753.4	-	13	1468	c.1323T>C	c.(1321-1323)tcT>tcC	p.S441S	POF1B_ENST00000373145.3_Silent_p.S441S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	441							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGCAAGTCTCAGAAACCTACA	0.363000													42	12					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52598157	52598157	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52598157T>C	ENST00000356770.4	-	22	3690	c.3688A>G	c.(3688-3690)Aat>Gat	p.N1230D	PBRM1_ENST00000394830.3_Missense_Mutation_p.N1237D|PBRM1_ENST00000337303.4_Missense_Mutation_p.N1262D|PBRM1_ENST00000409057.1_Missense_Mutation_p.N1262D|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.N1277D|PBRM1_ENST00000296302.7_Missense_Mutation_p.N1262D|PBRM1_ENST00000409767.1_Missense_Mutation_p.N1277D|PBRM1_ENST00000410007.1_Missense_Mutation_p.N1237D			Q86U86	PB1_HUMAN	polybromo 1	1262	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCGCTCTCATTGTAGCGGCTC	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								34	28					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101685532	101685532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:101685532G>A	ENST00000261637.4	+	9	1078	c.904G>A	c.(904-906)Gat>Aat	p.D302N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	302					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCGCTCTTGGATCTACACAC	0.328000													8	20					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104758	74104758	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:74104758A>G	ENST00000370336.4	+	1	288	c.130A>G	c.(130-132)Agt>Ggt	p.S44G	DDX43_ENST00000539829.1_Missense_Mutation_p.S44G|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	44						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGAGGGATATAGTGTCGGCAG	0.627000											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	67	22					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24582315	24582315	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24582315G>T	ENST00000358321.3	+	10	1835	c.1574G>T	c.(1573-1575)gGa>gTa	p.G525V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	525	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.G525V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AACAGGACCGGAGGTCTGGAG	0.652000													5	19					3.59834e-05	3.70213e-05	1	1	0
CLTCL1	8218	broad.mit.edu	37	22	19222208	19222208	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222208C>T	ENST00000263200.10	-	7	1063	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E331K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E331K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	331	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTTATCTTCCTCAACACAA	0.507000			T	?	ALCL								50	31					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518413	7518413	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:7518413C>G	ENST00000359920.6	+	7	1605	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.H409D|ARHGEF18_ENST00000319670.9_Nonsense_Mutation_p.S293*	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	451	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GATATCATCTCACAAGTGGAC	0.522000													21	74					0	0	1	0	0
NSMCE1	197370	broad.mit.edu	37	16	27246541	27246541	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:27246541C>T	ENST00000361439.4	-	3	315	c.216G>A	c.(214-216)aaG>aaA	p.K72K		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	72					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						TGACTCCTCTCTTTATCTCAA	0.478000											OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	15					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66130924	66130924	+	RNA	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:66130924G>C	ENST00000590019.1	-	0	298																											CTGTGGTGCAGGGGAAGCCCC	0.612000													6	7					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111593	142111593	+	RNA	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:142111593T>C	ENST00000390378.1	-	0	142																											CACACTGGTGTGCCCAGAGAT	0.537000													58	86					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33636829	33636829	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33636829G>T	ENST00000374316.5	+	19	3145	c.2085G>T	c.(2083-2085)acG>acT	p.T695T	ITPR3_ENST00000605930.1_Silent_p.T695T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	695					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						TGTGGCTCACGTGGACTGACA	0.587000													21	83					8.34094e-07	8.63134e-07	1	1	0
RANBP6	26953	broad.mit.edu	37	9	6014801	6014801	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6014801C>T	ENST00000259569.5	-	1	817	c.807G>A	c.(805-807)ttG>ttA	p.L269L	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	269					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACTTCAAACTCAACTGTAGAG	0.448000													37	59					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32257898	32257898	+	Silent	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:32257898A>T	ENST00000360482.2	-	15	3009	c.2880T>A	c.(2878-2880)tcT>tcA	p.S960S	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.S453S|SPOCD1_ENST00000533231.1_Silent_p.S960S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	960	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGTGCTCCACAGAGGCCAGCC	0.667000													8	11					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160137191	160137191	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:160137191A>G	ENST00000357388.3	+	12	2168	c.1717A>G	c.(1717-1719)Aaa>Gaa	p.K573E	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.K548E|SMC4_ENST00000344722.5_Missense_Mutation_p.K573E|SMC4_ENST00000462787.1_Missense_Mutation_p.K573E|SMC4_ENST00000360111.2_Missense_Mutation_p.K573E	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	573					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAAACTTTAAAAGTTTGGT	0.308000													23	55					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136253248	136253248	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136253248C>T	ENST00000371957.3	+	5	419	c.312C>T	c.(310-312)ctC>ctT	p.L104L	C9orf96_ENST00000371955.1_5'UTR|C9orf96_ENST00000426926.2_Silent_p.L104L	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	104	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572000													23	25					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682609	47682609	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47682609A>G	ENST00000283303.2	+	6	1886	c.1628A>G	c.(1627-1629)tAc>tGc	p.Y543C	GPR115_ENST00000327753.3_Missense_Mutation_p.Y543C|GPR115_ENST00000371220.1_Missense_Mutation_p.Y600C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	543					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAGAAAGGCTACATGAGACCT	0.483000													147	84					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11772057	11772057	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:11772057C>T	ENST00000381486.2	+	27	4934	c.4634C>T	c.(4633-4635)cCg>cTg	p.P1545L	GREB1_ENST00000234142.5_Missense_Mutation_p.P1545L|GREB1_ENST00000396123.1_Missense_Mutation_p.P543L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1545						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATAAAAAGTCCGACATTCACT	0.463000													12	23					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101359784	101359784	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:101359784C>G	ENST00000344327.3	-	4	1601	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.E393Q|TRPC6_ENST00000360497.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	393					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAAAGATTCTCATACCAAATG	0.433000													25	40					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42856512	42856512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:42856512G>A	ENST00000334370.4	+	18	3688	c.3053G>A	c.(3052-3054)tGc>tAc	p.C1018Y	MEGF8_ENST00000251268.6_Missense_Mutation_p.C1085Y	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1085						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGCCCGGTGCCACCCGCGG	0.701000													8	6					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33507279	33507279	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33507279C>T	ENST00000360596.2	+	8	1087	c.876C>T	c.(874-876)ctC>ctT	p.L292L	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.L305L|ACSS2_ENST00000336325.4_Silent_p.L242L	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	292					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCATGAGCTCATGCAAGAGG	0.557000													55	154					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38139583	38139583	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:38139583C>T	ENST00000399120.1	-	8	2685	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	HLCS_ENST00000336648.4_Silent_p.L485L	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	485					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTGAAACATCAGCCTGCCGA	0.567000													14	56					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8460538	8460538	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:8460538C>T	ENST00000381196.4	-	30	4291	c.3748G>A	c.(3748-3750)Gtg>Atg	p.V1250M	PTPRD_ENST00000397606.3_Missense_Mutation_p.V829M|PTPRD_ENST00000397611.3_Missense_Mutation_p.V836M|PTPRD_ENST00000537002.1_Missense_Mutation_p.V836M|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1237M|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1228M|PTPRD_ENST00000355233.5_Missense_Mutation_p.V839M|PTPRD_ENST00000486161.1_Missense_Mutation_p.V839M|PTPRD_ENST00000397617.3_Missense_Mutation_p.V829M|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1250M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1250M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1250					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTGACACCACGGGGTCGGAG	0.433000										TSP Lung(15;0.13)			20	37					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56127857	56127857	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:56127857C>T	ENST00000303039.3	+	1	167	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCTGGGCATCATCACCCTCA	0.498000													58	81					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	41					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294						adherens junction|cilium|microtubule basal body		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313000													5	47					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25149195	25149195	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:25149195G>C	ENST00000549828.1	-	2	286	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E	C12orf77_ENST00000434912.3_5'UTR|C12orf77_ENST00000549262.1_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	28										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TCCAGAATTTGAATATTATTT	0.443000													14	71					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17132940	17132940	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:17132940G>A	ENST00000443236.1	-	2	316	c.285C>T	c.(283-285)gtC>gtT	p.V95V	CPAMD8_ENST00000388925.4_Silent_p.V48V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	48						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCACGCTGATGACTTCCTCCA	0.602000													11	8					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36937359	36937359	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:36937359C>T	ENST00000262865.4	+	3	374	c.285C>T	c.(283-285)ccC>ccT	p.P95P	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	95					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCAGCTTCCCAGTTCCCAGA	0.448000													51	107					0	0	1	0	0
PCNA	5111	broad.mit.edu	37	20	5098271	5098271	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:5098271C>T	ENST00000379160.3	-	5	669	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	PCNA_ENST00000379143.5_Missense_Mutation_p.E143K	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	143					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CGTGCAAATTCACCAGAAGGC	0.383000								DNA polymerases (catalytic subunits)					29	118					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49852004	49852004	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49852004C>T	ENST00000377214.4	-	7	1062	c.700G>A	c.(700-702)Gta>Ata	p.V234I	TEAD2_ENST00000598810.1_Missense_Mutation_p.V235I|TEAD2_ENST00000593945.1_Missense_Mutation_p.V235I|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000311227.2_Missense_Mutation_p.V231I|TEAD2_ENST00000601519.1_Missense_Mutation_p.V234I|TEAD2_ENST00000539846.1_Missense_Mutation_p.V103I			Q15562	TEAD2_HUMAN	TEA domain family member 2	231	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAGAACTCTACCAGCTGCAAC	0.607000													53	56					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74124115	74124115	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:74124115C>G	ENST00000358602.4	-	1	387	c.271G>C	c.(271-273)Gac>Cac	p.D91H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D91H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	91					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)			ttgtcgctgtcgctgctgcTT	0.672000													14	37					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84539658	84539658	+	Missense_Mutation	SNP	G	G	A	rs139499552	by1000genomes	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:84539658G>A	ENST00000286744.5	+	9	1131	c.907G>A	c.(907-909)Gag>Aag	p.E303K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E303K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	303						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGGCTCCGAGAGGCAAAC	0.438000													55	42					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741384	37741384	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:37741384A>G	ENST00000400485.1	+	15	1794	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	573					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGTGATGATGATGATGAAGAT	0.378000													45	50					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3982047	3982047	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:3982047G>A	ENST00000309311.6	-	6	883	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	265						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTCAAAGTACCTGGCAA	0.592000													31	29					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33134689	33134689	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:33134689T>C	ENST00000373493.5	+	6	876	c.717T>C	c.(715-717)caT>caC	p.H239H	RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000373485.1_Silent_p.H239H|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000458695.2_Silent_p.H204H|RBBP4_ENST00000414241.3_Silent_p.H238H	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	239					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCTACTCCATGAGTCTCTGT	0.413000													53	70					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114246813	114246813	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:114246813G>T	ENST00000259335.4	-	2	99	c.100C>A	c.(100-102)Cag>Aag	p.Q34K		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGAGGTGGCTGGTGCTCCCAA	0.622000													8	22					1.06961e-07	1.11115e-07	1	1	0
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:20405117G>T	ENST00000381150.1	-	3	525	c.135C>A	c.(133-135)tcC>tcA	p.S45S	SDC1_ENST00000254351.4_Silent_p.S45S|SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	45					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532000													62	30					5.08636e-23	5.5309e-23	1	1	0
TBC1D26	353149	broad.mit.edu	37	17	15641362	15641362	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:15641362G>T	ENST00000437605.2	+	6	500	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.D84Y	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	84						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GATGCTTGCAGACTGGACAAA	0.522000													48	49					2.14674e-31	2.35349e-31	1	1	0
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:89789220G>A	ENST00000289816.5	+	2	574	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S|ZNF276_ENST00000443381.2_Missense_Mutation_p.G163S|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	163	ZAD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592000													31	23					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30078325	30078325	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:30078325T>G	ENST00000395248.1	+	8	1089	c.107T>G	c.(106-108)cTg>cGg	p.L36R	ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000564595.2_Missense_Mutation_p.L36R|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000569798.1_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	0					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CACCCTCAGCTGGGCAACACC	0.587000													5	3					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151164	170151164	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:170151164G>C	ENST00000263816.3	-	5	769	c.484C>G	c.(484-486)Cag>Gag	p.Q162E	LRP2_ENST00000443831.1_Missense_Mutation_p.Q162E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	162	LDL-receptor class A 4.				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.Q162E(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)	TCACACTTCTGACTGGTGTTA	0.393000													25	25					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209142384	209142384	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:209142384A>T	ENST00000264380.4	+	5	723	c.565A>T	c.(565-567)Agt>Tgt	p.S189C	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S189C|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	189					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTTTCTGCAGTCGTTGCTG	0.383000													27	107					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8198209	8198209	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:8198209A>T	ENST00000402384.3	-	7	919	c.653T>A	c.(652-654)cTt>cAt	p.L218H	ICA1_ENST00000265577.7_Missense_Mutation_p.L217H|ICA1_ENST00000422063.2_Missense_Mutation_p.L218H|ICA1_ENST00000401396.1_Missense_Mutation_p.L206H|ICA1_ENST00000406470.2_Missense_Mutation_p.L218H|ICA1_ENST00000407906.1_Missense_Mutation_p.L218H|ICA1_ENST00000396675.3_Missense_Mutation_p.L218H			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	218	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CGCTCCAAGAAGATCCACTTT	0.373000													58	80					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120221747	120221747	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:120221747G>A	ENST00000019103.5	-	6	855	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	196					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGAGCACGGCGTCCTTGATGA	0.582000													18	61					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29400577	29400577	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:29400577C>T	ENST00000558402.1	+	14	2621	c.2022C>T	c.(2020-2022)agC>agT	p.S674S	APBA2_ENST00000558259.1_Silent_p.S674S|APBA2_ENST00000561069.1_Silent_p.S674S|APBA2_ENST00000558330.1_Silent_p.S662S|APBA2_ENST00000411764.1_Silent_p.S662S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	674	PDZ 2.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGGCTTCAGCGTGCAGAATG	0.607000													27	90					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150307445	150307445	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150307445G>T	ENST00000324862.6	+	7	933	c.768G>T	c.(766-768)ctG>ctT	p.L256L	PRPF3_ENST00000414970.2_Silent_p.L207L|PRPF3_ENST00000543398.1_Silent_p.L121L|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	256					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)		CTACACCACTGATCCTGGATG	0.448000													14	11					0.000308642	0.000315121	1	1	0
MAGIX	79917	broad.mit.edu	37	X	49022416	49022416	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:49022416C>T	ENST00000376338.3	+	4	585	c.506C>T	c.(505-507)cCg>cTg	p.P169L	MAGIX_ENST00000425661.2_Missense_Mutation_p.P152L|MAGIX_ENST00000376339.1_Intron|MAGIX_ENST00000412696.2_Missense_Mutation_p.P228L|MAGIX_ENST00000498742.1_Intron			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	228	PDZ.																TCCGTAGTCCCGTCATGGCCA	0.602000													28	9					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49496351	49496351	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49496351A>C	ENST00000323798.3	-	1	215	c.19T>G	c.(19-21)Ttg>Gtg	p.L7V	GYS1_ENST00000541188.1_5'UTR|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.L7V|GYS1_ENST00000540532.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	7					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GACATGGACAAAGTGCGGTTT	0.612000											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	104					0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970508	160970508	+	Missense_Mutation	SNP	G	G	A	rs116727809	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:160970508G>A	ENST00000368026.6	-	4	575	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	101	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GTGTCTTCCCGTGTCACGGAC	0.542000													13	38					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353467	37353467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:37353467C>T	ENST00000217420.1	+	1	363	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	34					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GATGGGTTTTCAGGCGGCCAC	0.632000													19	19					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123163060	123163060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:123163060G>A	ENST00000349780.4	-	35	5590	c.5411C>T	c.(5410-5412)tCa>tTa	p.S1804L	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1725L|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1772L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1763L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1804	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCGGGGAGTGAGACTCTCCA	0.587000													41	45					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56582854	56582854	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:56582854C>T	ENST00000323456.5	-	11	1206	c.1082G>A	c.(1081-1083)aGc>aAc	p.S361N	MTMR4_ENST00000579925.1_Missense_Mutation_p.S361N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	361	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGCATCTGGCTACACACAGC	0.498000													12	45					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42952596	42952596	+	Splice_Site	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:42952596T>A	ENST00000327678.5	+	6	525		c.e6+2		SERHL2_ENST00000340239.4_Splice_Site|SERHL2_ENST00000407614.4_Intron|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Splice_Site	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2							perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						GAATCAGATGTGAGAAGCGGG	0.562000													38	83					0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113847578	113847578	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:113847578C>G	ENST00000383673.2	-	7	1618	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	DRD3_ENST00000295881.7_Missense_Mutation_p.K363N|DRD3_ENST00000460779.1_Missense_Mutation_p.K396N|DRD3_ENST00000467632.1_Missense_Mutation_p.K396N	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	396				K -> L (in Ref. 7; AAH95510).	activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.K396N(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AAGACAGGATCTTGAGGAAGG	0.527000													95	169					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228423	112228423	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:112228423G>A	ENST00000391338.1	+	1	1111	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	REEP5_ENST00000379638.4_Intron|REEP5_ENST00000545426.1_3'UTR|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						CTCCTCCTTTGGCAAGAACTC	0.493000													18	44					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	569632	569632	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:569632C>A	ENST00000266383.5	+	1	103	c.90C>A	c.(88-90)gcC>gcA	p.A30A		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	30						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGCGCTCGCCGTGGTGTCTG	0.731000													3	5					0.000602214	0.000611356	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	100377945	100377945	+	Translation_Start_Site	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:100377945G>T	ENST00000547010.1	-	0	104				ANKS1B_ENST00000547776.2_Missense_Mutation_p.S24Y|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S24Y			Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTCCTGCCAGACAGGAGTTT	0.612000													5	16					0.000602214	0.000611356	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28265744	28265744	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:28265744G>A	ENST00000405948.2	+	6	1265	c.845G>A	c.(844-846)gGa>gAa	p.G282E	PGBD1_ENST00000259883.3_Missense_Mutation_p.G282E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	282					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.G282A(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAACAAAGTGGAGAAGCCTCA	0.353000													9	76					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98779342	98779342	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:98779342C>T	ENST00000477737.1	+	8	1221	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	VWA3B_ENST00000435344.1_Silent_p.L339L|VWA3B_ENST00000451075.2_Silent_p.L189L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	339										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACGTGTTTCTCGTTTGGCAAG	0.637000													26	17					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53346282	53346282	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:53346282C>T	ENST00000607628.1	-	5	608	c.499G>A	c.(499-501)Gag>Aag	p.E167K	DCP1A_ENST00000294241.6_Missense_Mutation_p.E167K|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Missense_Mutation_p.E167K	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	167					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTCTCATACTCATCCTTGGCT	0.577000													19	24					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54417905	54417905	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:54417905G>T	ENST00000371370.3	+	3	754	c.233G>T	c.(232-234)cGa>cTa	p.R78L	LRRC42_ENST00000319223.4_Missense_Mutation_p.R78L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	78										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACATACACCCGAGAGGGGAAT	0.483000													30	97					2.24059e-21	2.42655e-21	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118374637	118374637	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:118374637C>G	ENST00000534358.1	+	27	8053	c.8030C>G	c.(8029-8031)tCa>tGa	p.S2677*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S2674*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S2636*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTAAGCACTTCAGATGAAGAC	0.463000													26	37					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374548	42374548	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42374548C>T	ENST00000290472.3	-	9	806	c.712G>A	c.(712-714)Ggg>Agg	p.G238R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	238					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GTGAGGTACCCAGCTGAGTTG	0.483000													17	47					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29557345	29557345	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:29557345G>A	ENST00000358273.4	+	23	3441	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	NF1_ENST00000356175.3_Missense_Mutation_p.E1020K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1020					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAATTAGTTGAAGTAATGAT	0.333000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			36	42					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887646	97887646	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:97887646T>G	ENST00000356526.2	+	1	103	c.103T>G	c.(103-105)Tat>Gat	p.Y35D		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CTTGGTAATATATCTCATCAC	0.408000													135	141					0	0	1	0	0
INSM2	84684	broad.mit.edu	37	14	36004326	36004326	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:36004326G>C	ENST00000307169.3	+	1	1079	c.868G>C	c.(868-870)Gag>Cag	p.E290Q		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CGTGCGCGTAGAGTACCGCTG	0.672000													21	27					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54925415	54925415	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:54925415C>T	ENST00000474759.1	+	25	2232	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	CACNA2D3_ENST00000490478.1_Silent_p.L634L|CACNA2D3_ENST00000288197.5_Silent_p.L728L|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.L728L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	728						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGCCTTCCTCGGCACTCGCA	0.532000													20	30					0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110199865	110199865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:110199865G>A	ENST00000369836.4	+	3	450	c.141G>A	c.(139-141)ctG>ctA	p.L47L	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Silent_p.L47L|GSTM4_ENST00000326729.5_Silent_p.L47L	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	47	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCAGTGGCTGAATGAAAAAT	0.567000													19	44					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21351029	21351029	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:21351029G>T	ENST00000215739.8	+	19	2623	c.2264G>T	c.(2263-2265)cGg>cTg	p.R755L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R736L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	755					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACAACAACCGGCTGCAGGCG	0.617000													19	9					0.00121646	0.00123259	1	1	0
GPR155	151556	broad.mit.edu	37	2	175304649	175304649	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:175304649G>A	ENST00000392552.2	-	15	2527	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	GPR155_ENST00000392551.2_Silent_p.I763I|GPR155_ENST00000295500.4_Silent_p.I763I|GPR155_ENST00000459996.1_5'UTR	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	763	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATGTTTCGGATACAGAGGT	0.343000													17	77					0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105401	60105401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:60105401G>A	ENST00000300182.4	+	2	400	c.335G>A	c.(334-336)aGa>aAa	p.R112K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	112						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GACTGCCATAGAGCCAAAGCC	0.373000													36	56					0	0	1	0	0
PITX3	5309	broad.mit.edu	37	10	103990676	103990676	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:103990676C>T	ENST00000370002.3	-	4	657	c.504G>A	c.(502-504)aaG>aaA	p.K168K	PITX3_ENST00000539804.1_Silent_p.K168K	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	168					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGGAAAGGTCTTGGCGGCGA	0.697000													4	6					0	0	1	0	0
RSPH1	89765	broad.mit.edu	37	21	43916272	43916272	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:43916272A>G	ENST00000291536.3	-	1	192	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	SLC37A1_ENST00000454800.1_3'UTR|RSPH1_ENST00000398352.3_Silent_p.L9L	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	9					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCCTCCTCCAACTCCTCCGAG	0.657000													13	36					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9167352	9167352	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:9167352G>A	ENST00000328194.3	-	17	3188	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	DENND5A_ENST00000530044.1_Silent_p.Y956Y|DENND5A_ENST00000527700.1_Silent_p.Y299Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	956	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAGAATGTGGTACGGGATCA	0.498000													179	234					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25639947	25639947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:25639947C>T	ENST00000435706.2	-	36	4918	c.4717G>A	c.(4717-4719)Gat>Aat	p.D1573N	TOP2B_ENST00000264331.4_Missense_Mutation_p.D1578N|TOP2B_ENST00000540199.1_Missense_Mutation_p.D430N|TOP2B_ENST00000542520.1_Missense_Mutation_p.D430N			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1578					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GAATCCTGATCAAAAGATGTC	0.383000													19	15					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40728880	40728880	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40728880C>T	ENST00000298910.7	+	40	5927	c.5869C>T	c.(5869-5871)Cgc>Tgc	p.R1957C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1957	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.R1957C(1)|p.R1964C(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCTTGGATCGCCTGCTTCA	0.527000													16	53					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94294474	94294474	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:94294474T>C	ENST00000265986.6	-	3	408	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	118					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTTCTTTGTTCCCAAAAAA	0.348000													18	40					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29786270	29786270	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:29786270C>A	ENST00000256062.5	-	6	1088		c.e6-1		TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000319685.8_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGTGAGGAATCTATAAAGAGA	0.443000													22	35					1.96292e-10	2.06319e-10	1	1	0
YWHAQ	10971	broad.mit.edu	37	2	9728302	9728302	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:9728302C>T	ENST00000381844.4	-	3	737	c.574G>A	c.(574-576)Gct>Act	p.A192T	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.A192T			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	192					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ACCGTTTTAGCCAGCGTGCAG	0.413000													30	19					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4301680	4301680	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:4301680C>T	ENST00000337872.4	+	2	129	c.8C>T	c.(7-9)cCt>cTt	p.P3L	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.P3L	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGCATGGACCCTGTTGCTACC	0.468000													43	55					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3807879	3807879	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:3807879C>G	ENST00000262367.5	-	18	4349	c.3540G>C	c.(3538-3540)aaG>aaC	p.K1180N	CREBBP_ENST00000382070.3_Missense_Mutation_p.K1142N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1180					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTCTGCAAGCTTACTGCAAA	0.473000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						24	18					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44435913	44435913	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:44435913G>A	ENST00000255108.3	+	1	238	c.66G>A	c.(64-66)ctG>ctA	p.L22L	DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000396758.2_Silent_p.L22L|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	22					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCCAGGACTGCTTACTCCTC	0.632000													35	35					0	0	1	0	0
RGS16	6004	broad.mit.edu	37	1	182572448	182572448	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:182572448C>A	ENST00000367558.5	-	2	219	c.71G>T	c.(70-72)gGg>gTg	p.G24V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	24					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						AAGAAAGATCCCCAGACGTGT	0.478000													26	36					3.65163e-15	3.87623e-15	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220434968	220434968	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:220434968G>A	ENST00000404537.1	-	1	1043	c.987C>T	c.(985-987)ctC>ctT	p.L329L	OBSL1_ENST00000265318.4_Silent_p.L329L|OBSL1_ENST00000289656.3_Intron|OBSL1_ENST00000373876.1_Silent_p.L329L|INHA_ENST00000489456.1_Intron|OBSL1_ENST00000603926.1_Silent_p.L329L|OBSL1_ENST00000373873.4_Silent_p.L329L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	329	Ig-like 3.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGGCACTGAGCGTCTGGC	0.692000													8	8					0	0	1	0	0
GKAP1	80318	broad.mit.edu	37	9	86395319	86395319	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:86395319T>C	ENST00000376371.2	-	7	963	c.563A>G	c.(562-564)gAt>gGt	p.D188G	GKAP1_ENST00000376365.3_Splice_Site_p.D188G	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	188					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						ACTAATGTGATCTGTAAATGA	0.244000													13	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587113	179587113	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:179587113A>G	ENST00000589042.1	-	77	22625	c.22401T>C	c.(22399-22401)acT>acC	p.T7467T	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T6223T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T7150T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7150	Ig-like 56.						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)			CTACAAATGAAGTCTGTAGAT	0.413000													35	24					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307393	14307393	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:14307393C>T	ENST00000380959.3	-	2	630	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	NFIB_ENST00000380921.3_Missense_Mutation_p.E53K|NFIB_ENST00000397579.2_Missense_Mutation_p.E53K|NFIB_ENST00000397575.3_Missense_Mutation_p.E53K|NFIB_ENST00000380934.4_Missense_Mutation_p.E79K|NFIB_ENST00000380953.1_Missense_Mutation_p.E53K|NFIB_ENST00000397581.2_Missense_Mutation_p.E53K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	53					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCTCTTTCTTCATCCTTTGAC	0.448000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								7	66					0	0	1	0	0
C9orf85	138241	broad.mit.edu	37	9	74526714	74526714	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:74526714T>A	ENST00000486911.2	+	1	138	c.64T>A	c.(64-66)Ttc>Atc	p.F22I	C9orf85_ENST00000377031.3_Missense_Mutation_p.F22I|C9orf85_ENST00000334731.2_Missense_Mutation_p.F22I			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	22										kidney(2)|large_intestine(1)|lung(4)	7						TACGTTTAGCTTCAAAAATGA	0.532000													32	150					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109935699	109935699	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:109935699G>A	ENST00000342494.3	+	10	1385	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	UBE3B_ENST00000280774.5_Missense_Mutation_p.V264M|UBE3B_ENST00000434735.2_Missense_Mutation_p.V264M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	264					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCCTGCTCTGGTGACTCATCT	0.468000													23	46					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104121532	104121532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:104121532G>A	ENST00000369983.3	+	14	1806	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	516					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATGCCTTATGAGATGAAGGA	0.468000													26	45					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14065247	14065247	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:14065247A>C	ENST00000254337.6	+	2	249	c.228A>C	c.(226-228)gcA>gcC	p.A76A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	76								p.A76A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTCTATGCAGGGTGAGGCT	0.657000													10	38					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36745173	36745173	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:36745173C>G	ENST00000216181.5	-	2	339	c.109G>C	c.(109-111)Gac>Cac	p.D37H	MYH9_ENST00000401701.1_Missense_Mutation_p.D37H	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	37	Myosin head-like.				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						CCACTCTTGTCGGAAGGCACC	0.552000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				12	18					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234198934	234198934	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234198934T>C	ENST00000392017.4	+	14	1622	c.1365T>C	c.(1363-1365)atT>atC	p.I455I	ATG16L1_ENST00000347464.5_Silent_p.I292I|ATG16L1_ENST00000392018.1_Silent_p.I472I|ATG16L1_ENST00000392020.4_Silent_p.I436I|ATG16L1_ENST00000373525.5_Silent_p.I276I	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	455					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GCAATGATATTGTCTGCACAG	0.413000													37	68					0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65474672	65474672	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:65474672C>G	ENST00000334121.6	+	12	2010	c.1851C>G	c.(1849-1851)ctC>ctG	p.L617L	SREK1_ENST00000380918.3_Silent_p.L501L|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	501					mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	p.L501L(1)|p.L617L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAGAAAACCTCTCTACCAAAA	0.398000													22	51					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25484207	25484207	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:25484207C>T	ENST00000381884.4	-	4	771	c.586G>A	c.(586-588)Gat>Aat	p.D196N	CENPJ_ENST00000545981.1_Missense_Mutation_p.D196N	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	196					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTGATCATCAGGCAGTAAA	0.478000													50	59					0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159052852	159052852	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159052852G>A	ENST00000367090.3	+	17	1782	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	591					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GAGTGACTATGAGGAAATGCC	0.537000													6	4					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947216	57947216	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:57947216G>A	ENST00000335397.3	+	3	616	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GTGCTGCTCAGTTCTTTCTGT	0.532000													53	79					0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213008	122213008	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:122213008C>G	ENST00000449592.2	+	11	979	c.878C>G	c.(877-879)tCc>tGc	p.S293C	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	293						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TTTGAGCTCTCCAGCCACGAG	0.637000													12	14					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40268620	40268620	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:40268620G>A	ENST00000263791.5	+	12	1867	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q	EIF2AK4_ENST00000382727.2_Silent_p.Q608Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	608	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CGCAGGTGCAGAACAAGTTGG	0.617000													22	20					0	0	1	0	0
NSF	4905	broad.mit.edu	37	17	44788430	44788430	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:44788430G>A	ENST00000398238.4	+	14	1679	c.1572G>A	c.(1570-1572)ctG>ctA	p.L524L	NSF_ENST00000225282.8_Silent_p.L430L|NSF_ENST00000575068.1_Silent_p.L519L	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	524					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GGGAGCTGCTGGTGCAGCAGA	0.443000													28	24					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133738201	133738201	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133738201C>T	ENST00000318560.5	+	4	982	c.601C>T	c.(601-603)Cat>Tat	p.H201Y		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	201	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTTGGTTCATCATCATTCAAC	0.567000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								22	47					0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145152190	145152190	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:145152190A>G	ENST00000318911.4	+	7	1002	c.929A>G	c.(928-930)aAg>aGg	p.K310R		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	310					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCGGCACAAGTGGTCAGTC	0.582000													19	25					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133370345	133370345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133370345C>G	ENST00000372394.1	+	14	1543	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L	ASS1_ENST00000352480.5_Silent_p.L354L|ASS1_ENST00000372393.3_Silent_p.L354L			P00966	ASSY_HUMAN	argininosuccinate synthase 1	354					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTCCGTCCTCAAGGGCCAGG	0.592000													11	30					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51065124	51065124	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:51065124G>A	ENST00000301180.5	+	5	617	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	195	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCTGTCCCACGGAGAGGTCAA	0.483000													60	43					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73623551	73623551	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:73623551C>A	ENST00000317905.5	-	20	3086	c.2927G>T	c.(2926-2928)cGg>cTg	p.R976L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.R949L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	976					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTCTCGCACCGGGCCCGGCC	0.632000								Other identified genes with known or suspected DNA repair function					41	47					4.17593e-13	4.42401e-13	1	1	0
GJB4	127534	broad.mit.edu	37	1	35227557	35227557	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:35227557C>T	ENST00000339480.1	+	2	1072	c.702C>T	c.(700-702)tgC>tgT	p.C234C	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	234					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGATACGTGCCCACCATATG	0.612000													26	47					0	0	1	0	0
SEPN1	57190	broad.mit.edu	37	1	26135144	26135144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:26135144G>A	ENST00000361547.2	+	5	666	c.611G>A	c.(610-612)cGc>cAc	p.R204H	SEPN1_ENST00000354177.4_Missense_Mutation_p.R170H|SEPN1_ENST00000374315.1_Missense_Mutation_p.R170H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	204						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCCACCCGCCACTTCCAG	0.657000													34	58					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56390406	56390406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:56390406C>T	ENST00000348428.3	+	10	1403	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S371L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	382	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	p.S371L(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAAGTGGTTTCACTGTTGGAT	0.393000			T	BIRC3	MALT								21	34					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737353	74737353	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:74737353C>T	ENST00000370895.1	+	7	743	c.708C>T	c.(706-708)ctC>ctT	p.L236L	TNNI3K_ENST00000370891.2_Silent_p.L236L|FPGT-TNNI3K_ENST00000557284.2_Silent_p.L249L|TNNI3K_ENST00000326637.3_Silent_p.L135L|FPGT-TNNI3K_ENST00000370899.3_Silent_p.L236L			Q59H18	TNI3K_HUMAN		135						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ACGGTGGCCTCACTGCCCTCC	0.433000													38	57					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92118691	92118691	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:92118691G>A	ENST00000248633.4	-	23	3778	c.3683C>T	c.(3682-3684)gCt>gTt	p.A1228V	PEX1_ENST00000438045.1_Missense_Mutation_p.A906V|PEX1_ENST00000428214.1_Missense_Mutation_p.A1171V|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1228					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTGACTAATAGCCAGTCTGGT	0.363000													18	24					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7013975	7013975	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:7013975T>C	ENST00000389658.3	-	23	3295	c.3202A>G	c.(3202-3204)Aaa>Gaa	p.K1068E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1068	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCAAATTTTGACTTGCAC	0.572000													5	27					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123645694	123645694	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645694C>G	ENST00000606320.1	-	22	3576	c.3370G>C	c.(3370-3372)Gaa>Caa	p.E1124Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E972Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1094Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E972Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	972					M phase of mitotic cell cycle	centriole|Golgi membrane		p.E972*(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGTCCTTTTCTTTTGTAAGT	0.343000													16	34					0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105657330	105657330	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105657330C>T	ENST00000224950.3	-	7	896	c.729G>A	c.(727-729)gtG>gtA	p.V243V	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.V243V	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	243					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CACTGTGAATCACAGGCTGAT	0.517000													19	34					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36287297	36287297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36287297C>G	ENST00000437635.2	-	11	1936	c.1759G>C	c.(1759-1761)Gct>Cct	p.A587P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	587										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GAGGAGTGAGCCACCTGGCTG	0.552000													74	24					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38279401	38279401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:38279401G>A	ENST00000447712.2	-	8	1936	c.995C>T	c.(994-996)tCc>tTc	p.S332F	FGFR1_ENST00000356207.5_Missense_Mutation_p.S243F|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Missense_Mutation_p.S332F|FGFR1_ENST00000397108.4_Missense_Mutation_p.S330F|FGFR1_ENST00000425967.3_Missense_Mutation_p.S363F|FGFR1_ENST00000326324.6_Missense_Mutation_p.S241F|FGFR1_ENST00000335922.5_Missense_Mutation_p.S324F|FGFR1_ENST00000397091.5_Missense_Mutation_p.S330F|FGFR1_ENST00000397113.2_Missense_Mutation_p.S330F	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	332	Ig-like C2-type 3.		S -> C (in KAL2).		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	GTCCTCAAAGGAGACATTTCT	0.488000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						9	37					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220825429	220825429	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:220825429C>G	ENST00000402574.1	+	15	2270	c.1268C>G	c.(1267-1269)tCt>tGt	p.S423C	MARK1_ENST00000366917.4_Missense_Mutation_p.S558C|MARK1_ENST00000366918.4_Missense_Mutation_p.S536C	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	558					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATGTCCACTTCTGGTCATCCT	0.493000													25	46					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37280749	37280749	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:37280749C>T	ENST00000373491.3	+	9	1184	c.1038C>T	c.(1036-1038)agC>agT	p.S346S		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	346	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TGCTGCGAAGCATTGAGGCTG	0.478000													98	20					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13223540	13223540	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13223540C>A	ENST00000592062.1	-	8	1419	c.849G>T	c.(847-849)aaG>aaT	p.K283N	TRMT1_ENST00000221504.8_Missense_Mutation_p.K283N|TRMT1_ENST00000437766.1_Missense_Mutation_p.K283N|TRMT1_ENST00000357720.4_Missense_Mutation_p.K283N			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	283							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCCCGGCTCTTGAGGGCCA	0.642000													16	78					1.02788e-11	1.08679e-11	1	1	0
XRCC3	7517	broad.mit.edu	37	14	104165252	104165252	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:104165252G>A	ENST00000553264.1	-	8	1720	c.924C>T	c.(922-924)ctC>ctT	p.L308L	KLC1_ENST00000557450.1_Intron|XRCC3_ENST00000555055.1_Silent_p.L308L|XRCC3_ENST00000554913.1_Silent_p.L308L|KLC1_ENST00000334553.6_Intron|XRCC3_ENST00000554974.1_Silent_p.L103L|XRCC3_ENST00000352127.7_Silent_p.L308L|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000452929.2_Intron|KLC1_ENST00000348520.6_Intron|XRCC3_ENST00000445556.1_Silent_p.L308L			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	308					DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTGGGCAGCCGAGGGCAGCCT	0.672000								Direct reversal of damage;Homologous recombination					7	5					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003336	42003336	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42003336C>G	ENST00000219905.7	+	8	3054	c.2873C>G	c.(2872-2874)aCt>aGt	p.T958S	MGA_ENST00000545763.1_Missense_Mutation_p.T958S|MGA_ENST00000566586.1_Missense_Mutation_p.T958S|MGA_ENST00000389936.4_Missense_Mutation_p.T958S|MGA_ENST00000570161.1_Missense_Mutation_p.T958S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	958						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTGTGCCAACTTTGGATGAA	0.433000													25	101					0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13220477	13220477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13220477C>A	ENST00000592062.1	-	12	1768	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	TRMT1_ENST00000221504.8_Nonsense_Mutation_p.E371*|TRMT1_ENST00000437766.1_Nonsense_Mutation_p.E400*|TRMT1_ENST00000357720.4_Nonsense_Mutation_p.E400*			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	400							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGGATGGGCTCTGCCCACATG	0.652000													21	56					4.54149e-19	4.87891e-19	1	1	0
MPHOSPH9	10198	broad.mit.edu	37	12	123645931	123645931	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645931C>G	ENST00000606320.1	-	22	3340		c.e22-1		MPHOSPH9_ENST00000392425.3_Splice_Site|MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000302349.5_Splice_Site			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9						M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TAAGTTTTTTCTGTCAGAGAG	0.368000													23	61					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37904564	37904564	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:37904564C>T	ENST00000403299.1	-	6	1251	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	CARD10_ENST00000406271.3_Silent_p.E59E|CARD10_ENST00000251973.5_Silent_p.E345E|CARD10_ENST00000494166.1_5'UTR			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	345					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCCACTGCAGCTCCCCCTGCA	0.697000													4	4					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40687375	40687375	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40687375G>C	ENST00000298910.7	+	21	2776	c.2718G>C	c.(2716-2718)aaG>aaC	p.K906N	LRRK2_ENST00000343742.2_Missense_Mutation_p.K906N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	906					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGTGAAAAAGAAATCTAATT	0.323000													15	12					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437720	201437728	+	In_Frame_Del	DEL	CTCCACGCA	CTCCACGCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:201437720_201437728delCTCCACGCA	ENST00000367311.3	-	1	584_592	c.187_195delTGCGTGGAG	c.(187-195)tgcgtggagdel	p.CVE63del	PHLDA3_ENST00000367309.1_In_Frame_Del_p.CVE63del	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	63	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						GCCCGGTGCTCTCCACGCACTCCACGGCC	0.689													10	55	---	---	---	---					
IL19	29949	broad.mit.edu	37	1	207013293	207013294	+	In_Frame_Ins	INS	-	-	ATC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207013293_207013294insATC	ENST00000270218.6	+	5	1248_1249	c.309_310insATC	c.(310-312)atc>ATCatc	p.104_104I>II	IL19_ENST00000340758.2_In_Frame_Ins_p.142_142I>II	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	104					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTTGAGAAAAATCAGCAGCAT	0.505													57	102	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36810380	36810381	+	RNA	INS	-	-	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:36810380_36810381insT	ENST00000424886.1	-	0	405_406																											TGAGTGAGGCCttttttttttt	0.540													5	6	---	---	---	---					
ZFYVE28	57732	broad.mit.edu	37	4	2273431	2273439	+	In_Frame_Del	DEL	GCCAGTTCA	GCCAGTTCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:2273431_2273439delGCCAGTTCA	ENST00000290974.2	-	11	2730_2738	c.2391_2399delTGAACTGGC	c.(2389-2400)tctgaactggca>tca	p.ELA798del	ZFYVE28_ENST00000508471.1_In_Frame_Del_p.ELA103del|ZFYVE28_ENST00000511071.1_In_Frame_Del_p.ELA768del|ZFYVE28_ENST00000515312.1_In_Frame_Del_p.ELA728del	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	798					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGTCTTGGCTGCCAGTTCAGAGGATGACA	0.627													40	128	---	---	---	---					
SLC10A4	201780	broad.mit.edu	37	4	48485996	48486009	+	Frame_Shift_Del	DEL	CTGCTGGCAGCGCT	CTGCTGGCAGCGCT	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:48485996_48486009delCTGCTGGCAGCGCT	ENST00000273861.4	+	1	637_650	c.418_431delCTGCTGGCAGCGCT	c.(418-432)ctgctggcagcgctcfs	p.LLAAL140fs		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	140						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGTGGGCGCGCTGCTGGCAGCGCTCTGCCAGTTC	0.715													4	5	---	---	---	---					
FHDC1	85462	broad.mit.edu	37	4	153896047	153896048	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:153896047_153896048insC	ENST00000511601.1	+	12	1792_1793	c.1604_1605insC	c.(1603-1608)aacaccfs	p.T536fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.T536fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	536					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGGCCCCCGAACACCCGCCGCT	0.663													4	6	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13841840	13841848	+	In_Frame_Del	DEL	ACCTGTTTC	ACCTGTTTC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:13841840_13841848delACCTGTTTC	ENST00000265104.4	-	33	5541_5549	c.5437_5445delGAAACAGGT	c.(5437-5445)gaaacaggtdel	p.ETG1813del		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1813	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T1814T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGTTGGAAACCTGTTTCTTGAATATTT	0.388									Kartagener syndrome				24	76	---	---	---	---					
AFF4	27125	broad.mit.edu	37	5	132216839	132216840	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:132216839_132216840insT	ENST00000265343.5	-	21	3782_3783	c.3403_3404insA	c.(3403-3405)atcfs	p.I1135fs		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1135					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTAAAGATGAGAGGGCCC	0.381													15	30	---	---	---	---					
PCDHGC4	56098	broad.mit.edu	37	5	140865328	140865328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140865328delG	ENST00000306593.1	+	1	588	c.588delG	c.(586-588)ctgfs	p.L196fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTCCTGGAGAAGCCTT	0.587													10	56	---	---	---	---					
INTS1	26173	broad.mit.edu	37	7	1517411	1517412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:1517411_1517412insC	ENST00000389470.4	-	35	5387_5388	c.5388_5389insG	c.(5386-5391)gggaagfs	p.K1797fs	INTS1_ENST00000404767.3_Frame_Shift_Ins_p.K1598fs			Q8N201	INT1_HUMAN	integrator complex subunit 1	1598					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCACCCGGCTTCCCCCCAGCCA	0.693													20	27	---	---	---	---					
GIMAP2	26157	broad.mit.edu	37	7	150390132	150390133	+	Frame_Shift_Ins	INS	-	-	CACAC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:150390132_150390133insCACAC	ENST00000223293.5	+	3	852_853	c.758_759insCACAC	c.(757-762)tacacafs	p.-254fs		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2							integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAAGAAGTTACACAGCCTTGG	0.371													14	71	---	---	---	---					
ADM	133	broad.mit.edu	37	11	10327868	10327888	+	In_Frame_Del	DEL	CCCGCCCGCAGCAGTCCGGAT	CCCGCCCGCAGCAGTCCGGAT	-	rs2228573	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:10327868_10327888delCCCGCCCGCAGCAGTCCGGAT	ENST00000530439.1	+	2	798_818	c.34_54delCCCGCCCGCAGCAGTCCGGAT	c.(34-54)cccgcccgcagcagtccggatdel	p.PARSSPD12del	ADM_ENST00000534464.1_Splice_Site_p.TRPQ36del|ADM_ENST00000526492.1_In_Frame_Del_p.90_97PRPQQSGC>R|ADM_ENST00000525063.1_Splice_Site_p.TRPQ83del|ADM_ENST00000278175.5_Splice_Site_p.TRPQ83del|ADM_ENST00000528655.1_Splice_Site_p.TRPQ83del	NM_001124.1	NP_001115.1	P35318	ADML_HUMAN	adrenomedullin	80					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TCCCCCTCCCCCCGCCCGCAGCAGTCCGGATGCCGCCCGCA	0.638													14	22	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19259556	19259570	+	In_Frame_Del	DEL	TGGTAGGTGTGGTTA	TGGTAGGTGTGGTTA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:19259556_19259570delTGGTAGGTGTGGTTA	ENST00000527884.1	-	3	357_371	c.125_139delTAACCACACCTACCA	c.(124-141)ttaaccacacctaccaag>tag	p.42_47LTTPTK>*	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_In_Frame_Del_p.42_47LTTPTK>*	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	42					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.T43I(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTTGGGCTTGGTAGGTGTGGTTAAAGGGCCAAA	0.502													70	96	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65265440	65265463	+	RNA	DEL	CCAGGTGGTGGTATTTAGATAAAA	CCAGGTGGTGGTATTTAGATAAAA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:65265440_65265463delCCAGGTGGTGGTATTTAGATAAAA	ENST00000534336.1	+	0	208_231					NR_002819.2																						GCTGGCCATTCCAGGTGGTGGTATTTAGATAAAACCACTCAAAC	0.518													19	108	---	---	---	---					
CPSF6	11052	broad.mit.edu	37	12	69652399	69652416	+	In_Frame_Del	DEL	GGTCCTCCAGGCCCACCT	GGTCCTCCAGGCCCACCT	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:69652399_69652416delGGTCCTCCAGGCCCACCT	ENST00000435070.2	+	6	834_851	c.724_741delGGTCCTCCAGGCCCACCT	c.(724-741)ggtcctccaggcccacctdel	p.GPPGPP248del	CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_In_Frame_Del_p.GPPGPP285del	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	248	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAG	0.491													7	71	---	---	---	---					
ZC3H13	23091	broad.mit.edu	37	13	46619528	46619529	+	Frame_Shift_Ins	INS	-	-	TGCTGTACTGCCAG			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:46619528_46619529insTGCTGTACTGCCAG	ENST00000242848.4	-	2	462_463	c.114_115insCTGGCAGTACAGCA	c.(112-117)gcagagfs	p.E39fs	ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.E39fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	39							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAACTCACCTCTGCTGTACTGC	0.416													25	171	---	---	---	---					
CCDC33	80125	broad.mit.edu	37	15	74628313	74628317	+	Frame_Shift_Del	DEL	GCCCC	GCCCC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74628313_74628317delGCCCC	ENST00000398814.3	+	19	2618_2622	c.2187_2191delGCCCC	c.(2185-2193)gagcccctgfs	p.EPL729fs	CCDC33_ENST00000268082.4_3'UTR|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000558821.1_3'UTR	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	932							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGAGCTGGAGCCCCTGCTGCCCAG	0.634													22	65	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	21042362	21042366	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:21042362_21042366delCTTAC	ENST00000261383.3	-	37	5439		c.e37+1		DNAH3_ENST00000415178.1_Splice_Site	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						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)		AGGGTCAATACTTACCTTTTTATTG	0.332													32	23	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7572963	7572963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7572963delT	ENST00000269305.4	-	11	1335	c.1146delA	c.(1144-1146)aaafs	p.K382fs	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.K382fs|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	382	Basic (repression of DNA-binding).|Interaction with CARM1.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K382fs*40(3)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAACATGAGTTTTTTATGGC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			62	88	---	---	---	---					
NFE2L1	4779	broad.mit.edu	37	17	46133814	46133814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46133814delG	ENST00000362042.3	+	3	1193	c.577delG	c.(577-579)gacfs	p.D193fs	NFE2L1_ENST00000585291.1_Frame_Shift_Del_p.D193fs|NFE2L1_ENST00000536222.1_Frame_Shift_Del_p.D67fs|NFE2L1_ENST00000583378.1_Frame_Shift_Del_p.D24fs|NFE2L1_ENST00000361665.3_Frame_Shift_Del_p.D182fs|NFE2L1_ENST00000357480.5_Frame_Shift_Del_p.D193fs|NFE2L1_ENST00000582155.1_Frame_Shift_Del_p.D35fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	193	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGGTTTTTGACTATAGTCA	0.547													73	288	---	---	---	---					
CXXC1	30827	broad.mit.edu	37	18	47812527	47812533	+	Frame_Shift_Del	DEL	CCCTCCA	CCCTCCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:47812527_47812533delCCCTCCA	ENST00000285106.6	-	4	1032_1038	c.318_324delTGGAGGG	c.(316-324)ggtggagggfs	p.GGG106fs	CXXC1_ENST00000412036.2_Frame_Shift_Del_p.GGG106fs|CXXC1_ENST00000589940.1_Frame_Shift_Del_p.GGG106fs	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	106					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCCTCTTGCGCCCTCCACCCTCATCCC	0.638													39	62	---	---	---	---					
CYP4F3	4051	broad.mit.edu	37	19	15757870	15757874	+	Frame_Shift_Del	DEL	GTACC	GTACC	-	rs150284363		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:15757870_15757874delGTACC	ENST00000221307.8	+	4	399_403	c.352_356delGTACC	c.(352-357)gtaccafs	p.VP118fs	CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.VP118fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.VP118fs|CYP4F3_ENST00000586182.2_Frame_Shift_Del_p.VP118fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.P119T(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCTGCCATTGTACCAAAGGACAAG	0.566													20	79	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773490	35773501	+	In_Frame_Del	DEL	AGCTCCCAGATC	AGCTCCCAGATC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35773490_35773501delAGCTCCCAGATC	ENST00000598398.1	+	2	306_317	c.10_21delAGCTCCCAGATC	c.(10-21)agctcccagatcdel	p.SSQI4del	HAMP_ENST00000222304.3_In_Frame_Del_p.SSQI4del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	4					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GATGGCACTGAGCTCCCAGATCTGGGCCGCTT	0.623													32	131	---	---	---	---					
SLC27A5	10998	broad.mit.edu	37	19	59010912	59010912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:59010912delG	ENST00000263093.2	-	7	1723	c.1614delC	c.(1612-1614)gccfs	p.A538fs	SLC27A5_ENST00000601355.1_Frame_Shift_Del_p.A454fs	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	538					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGCGGTCCATGGCCAGTACGT	0.692													33	45	---	---	---	---					
CABIN1	23523	broad.mit.edu	37	22	24572198	24572215	+	In_Frame_Del	DEL	GCAGAGGCTGCCCTGGGC	GCAGAGGCTGCCCTGGGC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24572198_24572215delGCAGAGGCTGCCCTGGGC	ENST00000398319.2	+	35	6545_6562	c.6160_6177delGCAGAGGCTGCCCTGGGC	c.(6160-6177)gcagaggctgccctgggcdel	p.AEAALG2054del	CABIN1_ENST00000337989.7_Intron|CABIN1_ENST00000405822.2_In_Frame_Del_p.AEAALG1975del|CABIN1_ENST00000263119.5_In_Frame_Del_p.AEAALG2054del	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2054					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						CTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTG	0.693													7	2	---	---	---	---					
SOX10	6663	broad.mit.edu	37	22	38374040	38374040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:38374040delC	ENST00000396884.2	-	3	813	c.531delG	c.(529-531)cggfs	p.R178fs	POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Frame_Shift_Del_p.R178fs|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	178						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CGTTCTTCCGCCGCCTGGGCT	0.667													9	10	---	---	---	---					
