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
RPRD1A	55197	broad.mit.edu	37	18	33647274	33647274	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr18:33647274G>C	ENST00000399022.4	-	1	265	c.94C>G	c.(94-96)Cac>Gac	p.H32D	RPRD1A_ENST00000319040.6_Missense_Mutation_p.H32D|RPRD1A_ENST00000590898.1_5'UTR|RPRD1A_ENST00000588737.1_5'UTR|RPRD1A_ENST00000357384.4_Missense_Mutation_p.H32D	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	32	CID.									NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTACGGTGGTGAATGAGCCAC	0.627000													4	10					0	0	1	0	0
FAM86DP	0	broad.mit.edu	37	3	75475670	75475670	+	RNA	SNP	A	A	C	rs7430363	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:75475670A>C	ENST00000459803.1	-	0	859					NR_024241.1																						ACCTCAGGAGACTGCTGGTGC	0.627000													5	50					0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185062373	185062373	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:185062373C>A	ENST00000367510.3	+	4	717	c.429C>A	c.(427-429)agC>agA	p.S143R	RNF2_ENST00000367509.4_Intron	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	143	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCAGTCACAGCATTGAGGAAG	0.393000													3	49					0.115264	0.115264	1	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													2	11					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6588368	6588368	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:6588368A>C	ENST00000254579.6	+	36	12193	c.11629A>C	c.(11629-11631)Agc>Cgc	p.S3877R	DNHD1_ENST00000527990.2_Missense_Mutation_p.S3877R	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3877					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTTCTGTATGAGCCCAGAGAA	0.537000													8	79					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102307352	102307352	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr6:102307352G>A	ENST00000369138.1	+	10	1998	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	GRIK2_ENST00000413795.1_Missense_Mutation_p.R503H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R454H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R503H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R503H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R503H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	503					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGAATGGTTCGTGAACTAATT	0.353000													7	49					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	35					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72090087	72090087	+	Silent	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:72090087G>A	ENST00000355906.5	+	2	91	c.33G>A	c.(31-33)ctG>ctA	p.L11L	HP_ENST00000570083.1_Silent_p.L11L|HP_ENST00000398131.2_Silent_p.L11L|HP_ENST00000569639.1_Silent_p.L11L|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Silent_p.L11L|HP_ENST00000565574.1_Silent_p.L11L	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	11					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTGCCCTCCTGCTCTGGGGAC	0.547000													24	37					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076926	40076926	+	Silent	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr12:40076926C>T	ENST00000324616.5	+	8	1354	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	C12orf40_ENST00000405531.3_Silent_p.S400S|C12orf40_ENST00000398716.1_Silent_p.S323S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	400										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTACCCAAGCAGCTCTGAAA	0.294000													19	25					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229623237	229623237	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:229623237C>T	ENST00000261396.3	-	10	1409	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	NUP133_ENST00000537506.1_Missense_Mutation_p.E424K|NUP133_ENST00000366679.1_Missense_Mutation_p.E440K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	440					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAATTTTCTCCTGGGGAAGA	0.413000													36	50					0	0	1	0	0
PCBP4	57060	broad.mit.edu	37	3	51994090	51994090	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:51994090A>G	ENST00000395014.2	-	2	399	c.400T>C	c.(400-402)Ttt>Ctt	p.F134L	PCBP4_ENST00000461554.1_Intron|PCBP4_ENST00000395013.3_Intron|PCBP4_ENST00000484633.1_Intron|PCBP4_ENST00000355852.2_Intron|PCBP4_ENST00000322099.7_Intron|PCBP4_ENST00000428823.2_Intron|PCBP4_ENST00000471622.1_Intron			P57723	PCBP4_HUMAN	poly(rC) binding protein 4	128	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AACCCAGAAAAGGGCTGCCCA	0.607000													3	52					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45972977	45972977	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr22:45972977G>A	ENST00000348697.2	+	19	2108	c.1961G>A	c.(1960-1962)gGc>gAc	p.G654D	FBLN1_ENST00000327858.6_Missense_Mutation_p.G654D			P23142	FBLN1_HUMAN	fibulin 1	654					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACATGGACGGCATGACCGTG	0.582000													3	33					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89577214	89577214	+	Missense_Mutation	SNP	A	A	T	rs2972040	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr4:89577214A>T	ENST00000407637.1	+	9	1263	c.1097A>T	c.(1096-1098)aAg>aTg	p.K366M	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron			Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGGAATTTAAAGGTATTTTAA	0.388000													3	26					0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59573896	59573896	+	Missense_Mutation	SNP	C	C	T	rs117253311	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr11:59573896C>T	ENST00000300151.4	-	4	893	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	227							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CAGTACTTTCCGTATGCCCAG	0.463000													5	143					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64973686	64973686	+	Silent	SNP	G	G	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr10:64973686G>T	ENST00000399262.2	-	8	2459	c.2241C>A	c.(2239-2241)acC>acA	p.T747T	JMJD1C_ENST00000542921.1_Silent_p.T565T|JMJD1C_ENST00000402544.1_Silent_p.T528T|JMJD1C_ENST00000399251.1_Silent_p.T528T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	747					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATTTAAACAGGTTCTATGAG	0.438000													27	39					3.99451e-17	4.4042e-17	1	1	0
IL18RAP	8807	broad.mit.edu	37	2	103059671	103059671	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:103059671A>C	ENST00000264260.2	+	8	1397	c.808A>C	c.(808-810)Act>Cct	p.T270P	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T128P	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	270	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAAGCCTTTAACTATTAGCTG	0.438000													16	48					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57543196	57543196	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr3:57543196G>A	ENST00000311180.8	+	1	1193	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	PDE12_ENST00000487257.1_Missense_Mutation_p.A364T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	364							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)		CTTGGTACCCGCCCTAGAGGC	0.557000													3	43					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924423	70924423	+	Silent	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:70924423C>A	ENST00000603540.1	+	2	465	c.207C>A	c.(205-207)ggC>ggA	p.G69G	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.G69G	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	69					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTTTGGGGGCCAGAAACACG	0.527000													17	152					7.01153e-11	7.5374e-11	1	1	0
PMS2P4	0	broad.mit.edu	37	7	66764392	66764392	+	RNA	SNP	T	T	C	rs75182069	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr7:66764392T>C	ENST00000414507.1	-	0	63																											ATAGGTTTGATGGCCTTAGCA	0.418000													9	230					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876155	154876155	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr7:154876155C>A	ENST00000287907.2	+	2	1608	c.1032C>A	c.(1030-1032)aaC>aaA	p.N344K	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	344						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TCAACAAGAACTACAACAGCG	0.468000													6	148					0.00116845	0.00122544	1	1	0
WARS	7453	broad.mit.edu	37	14	100808866	100808866	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr14:100808866C>A	ENST00000355338.2	-	9	1600	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	WARS_ENST00000557135.1_Missense_Mutation_p.G328C|WARS_ENST00000392882.2_Missense_Mutation_p.G328C|WARS_ENST00000358655.4_Missense_Mutation_p.G287C|WARS_ENST00000344102.5_Missense_Mutation_p.G287C|WARS_ENST00000556645.1_Missense_Mutation_p.G287C|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	328					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTAGGATAGCCGATCCTGGGG	0.582000													3	24					0.115264	0.115264	1	1	0
GPR98	84059	broad.mit.edu	37	5	89923208	89923208	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr5:89923208C>T	ENST00000405460.2	+	7	949	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	285					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R285C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCAGTAGTTCGTGGAAAGGA	0.398000													5	96					0	0	1	0	0
RP11-178C3.2	0	broad.mit.edu	37	17	58066651	58066651	+	RNA	SNP	C	C	T	rs144367363	by1000genomes	TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333000													3	8					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2283533	2283533	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr16:2283533G>A	ENST00000301727.4	+	8	1199	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	E4F1_ENST00000565090.1_Intron|E4F1_ENST00000564139.1_Missense_Mutation_p.R384H	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	384	Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GTCCTTGAGCGCGCTGCTGGG	0.706000													6	7					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr19:15061128C>T	ENST00000430939.2	-	9	1511	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	SLC1A6_ENST00000221742.3_Missense_Mutation_p.R525Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R447Q			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	525					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CTCCAGCTCCCGCTGAGACAA	0.612000													20	42					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43056987	43056987	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr20:43056987A>T	ENST00000316099.3	+	9	1231	c.1142A>T	c.(1141-1143)gAt>gTt	p.D381V	HNF4A_ENST00000457232.1_Missense_Mutation_p.D359V|HNF4A_ENST00000415691.1_Missense_Mutation_p.D381V	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	381					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCCAGCGATGCACCCCAT	0.597000													10	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612467	179612467	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:179612467A>G	ENST00000360870.5	-	46	14882	c.14660T>C	c.(14659-14661)aTt>aCt	p.I4887T	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1010	Ig-like 29.						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)			TAATTTAGGAATATTTTGAGA	0.378000													10	33					0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216977742	216977742	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr2:216977742G>A	ENST00000392133.3	+	4	486	c.25G>A	c.(25-27)Gct>Act	p.A9T	XRCC5_ENST00000392132.2_Missense_Mutation_p.A9T			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	9					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTCCAGGCAGCTGTTGTGCT	0.398000								Non-homologous end-joining					34	60					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				8	16	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110410703	110410703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3CS-01A-21D-A19J-08	TCGA-EL-A3CS-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	422b8ca4-c6e6-4287-9ed7-09fc4215df05	883ac7a6-a2bb-4e50-b199-2fe468fd3c60	g.chr8:110410703delT	ENST00000378402.5	+	12	1042	c.938delT	c.(937-939)atfs	p.I313fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	313	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTGTGATATTTTGAATGTC	0.368										HNSCC(38;0.096)			2	4	---	---	---	---					
