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
GABRA3	2556	broad.mit.edu	37	X	151532994	151532994	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:151532994G>C	uc010ntk.1	-	1	289	c.49C>G	c.(49-51)Ctt>Gtt	p.L17V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.L17I(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCAGGAAAAGAATCCCAAGG	0.453000													30	127					0	0	1	0	0
KIAA1191	57179	broad.mit.edu	37	5	175779732	175779732	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:175779732C>T	uc003mdw.3	-	4	599	c.227G>A	c.(226-228)aGt>aAt	p.S76N	KIAA1191_uc003mdx.3_Missense_Mutation_p.S57N|KIAA1191_uc003mdy.3_Missense_Mutation_p.S76N|KIAA1191_uc003mea.3_Intron|KIAA1191_uc003mdz.3_Intron	NM_020444	NP_001073152	Q96A73	K1191_HUMAN	Homo sapiens KIAA1191 (KIAA1191), transcript variant 1, mRNA.	76							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGAGGGTAGACTGGCCTCTCC	0.527000													13	43					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:178928079G>A	uc003fjk.3	+	7	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(20)|p.E453Q(8)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	96					0	0	1	0	0
GMPR	2766	broad.mit.edu	37	6	16295259	16295259	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:16295259G>A	uc003nbs.3	+	8	994	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	294					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TAAGACTGTGGAAGTTCCTTA	0.498000													11	55					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13786333	13786333	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:13786333C>T	uc004cvp.4	+	20	3277	c.2918C>T	c.(2917-2919)tCg>tTg	p.S973L	OFD1_uc004cvr.4_Missense_Mutation_p.S503L|OFD1_uc011mil.2_Missense_Mutation_p.S540L|OFD1_uc004cvq.4_Missense_Mutation_p.S796L|OFD1_uc010nen.3_Missense_Mutation_p.S971L|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.S932L|OFD1_uc004cvv.4_Missense_Mutation_p.S931L	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	973	Mediates the interaction with SDCCAG8.				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GACCAGGAGTCGGCAGATAAG	0.478000													15	89					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504773	56504773	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:56504773C>T	uc001sjm.3	+	9	1287	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	290					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	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)			GAAGAAGGCTCGGATGGGTGT	0.418000													13	46					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr13:111372025C>T	uc001vri.3	+	1	1447	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_uc001vrf.3_Nonsense_Mutation_p.R152*|ING1_uc001vrg.3_Nonsense_Mutation_p.R127*|ING1_uc001vrh.3_Nonsense_Mutation_p.R196*|ING1_uc021rmo.1_Nonsense_Mutation_p.R127*	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	339					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.R196*(3)|p.R339*(1)|p.R152*(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627000													13	39					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153228837	153228837	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:153228837A>C	uc004fjp.3	-	3	1079	c.551T>G	c.(550-552)gTg>gGg	p.V184G		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	184					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTACCACTCCAGAGCC	0.522000													13	61					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880683	200880683	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:200880683C>T	uc001gvo.3	+	8	1359	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	C1orf106_uc010ppm.2_Silent_p.P354P	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTGCTTTCCCGCGACCAAGC	0.682000													32	192					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121432114	121432114	+	Silent	SNP	G	G	A	rs147259596	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:121432114G>A	uc001lem.3	+	2	1161	c.855G>A	c.(853-855)acG>acA	p.T285T	BAG3_uc001lel.3_Silent_p.T285T	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	285					anti-apoptosis|apoptosis|protein folding	cytosol		p.T285M(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGAGCAGCACGCCACTCCACT	0.657000													7	63					0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150555011	150555011	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:150555011G>A	uc003why.1	+	2	5671	c.1453G>A	c.(1453-1455)Gtc>Atc	p.V485I	ABP1_uc003whz.1_Missense_Mutation_p.V485I|ABP1_uc003wia.1_Missense_Mutation_p.V485I	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	485					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACTGGCTACGTCCACGCCAC	0.557000													21	106					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12720061	12720061	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:12720061C>T	uc004cuz.2	+	9	1508	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	FRMPD4_uc011mij.2_Silent_p.A326A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	334	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGCGGCTGGCCGCATTACAAA	0.507000											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	126					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98508712	98508712	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:98508712G>A	uc003upp.3	+	16	2034	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TRRAP_uc011kis.2_Missense_Mutation_p.G609R|TRRAP_uc003upr.3_Missense_Mutation_p.G301R	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	609					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|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)			CCAGATAGCAGGAAATGGACA	0.453000													10	66					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124499166	124499166	+	Splice_Site	SNP	C	C	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:124499166C>A	uc003vlm.3	-	9	1148	c.547_splice	c.e9-1	p.V183_splice	POT1_uc011koe.2_Splice_Site|POT1_uc003vlk.3_Splice_Site|POT1_uc003vll.3_Splice_Site|POT1_uc003vln.3_Splice_Site|POT1_uc003vlo.3_Splice_Site_p.V52_splice	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	183					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.V183L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCATCCCATACCTGCCATAAG	0.353000													8	40					1.12685e-05	1.15246e-05	1	1	0
ZP2	7783	broad.mit.edu	37	16	21214448	21214448	+	Missense_Mutation	SNP	A	A	G	rs142277591		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr16:21214448A>G	uc010bwn.1	-	9	1296	c.1214T>C	c.(1213-1215)aTa>aCa	p.I405T	ZP2_uc002dii.2_Missense_Mutation_p.I366T	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	366	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTTTACCTATAGAAACGGG	0.418000													12	47					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118114	118114	+	RNA	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrGL000205.1:118114C>T	uc002kgk.4	+	0		c.1492C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTCTCACTGCCTGCTACAGCC	0.552000													8	64					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112641024	112641024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:112641024G>A	uc001kzh.3	+	2	363	c.77G>A	c.(76-78)gGt>gAt	p.G26D	PDCD4_uc001kzg.3_Missense_Mutation_p.G15D|PDCD4_uc010qre.2_Intron	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	26					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTCTTTTCCGGTGATGAAGAA	0.318000													19	101					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								16	92					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr14:65544747C>T	uc001xif.1	-	3	349	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.R60Q|MAX_uc001xig.1_Missense_Mutation_p.R51Q|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.R51Q|MAX_uc001xij.1_Missense_Mutation_p.R60Q	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(8)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498000													19	60					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117050747	117050747	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:117050747G>A	uc011lxl.2	+	41	4000	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1334	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGAGCAGGGCGAGGACGGCAA	0.637000													4	17					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:79059041T>C	uc002bej.4	-	18	3423	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(8)|p.N1071N(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617000													4	44					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	413500	413500	+	Silent	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:413500G>A	uc003jav.3	+	4	448	c.405G>A	c.(403-405)acG>acA	p.T135T	AHRR_uc003jaw.3_Silent_p.T135T|AHRR_uc010isy.3_5'UTR|AHRR_uc010isz.3_Silent_p.T131T	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	135	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CAGAAGGGACGATATTTTATG	0.403000													21	82					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811260	5811260	+	Silent	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:5811260C>T	uc010ndi.3	-	6	2624	c.2160G>A	c.(2158-2160)gcG>gcA	p.A720A	NLGN4X_uc004crp.3_Silent_p.A703A|NLGN4X_uc010ndh.3_Silent_p.A683A|NLGN4X_uc004crq.3_Silent_p.A683A|NLGN4X_uc004crr.3_Silent_p.A683A|NLGN4X_uc010ndj.3_Silent_p.A683A	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	683					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGGAGCGACGCCCCGACGG	0.522000													23	92					0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4668029	4668029	+	Missense_Mutation	SNP	C	C	T	rs140432356	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:4668029C>T	uc001qmw.3	+	9	1085	c.929C>T	c.(928-930)tCt>tTt	p.S310F	RAD51AP1_uc001qmu.3_Missense_Mutation_p.S293F|RAD51AP1_uc010sep.2_Missense_Mutation_p.S191F|RAD51AP1_uc010seq.2_Missense_Mutation_p.S191F|RAD51AP1_uc009zeg.3_Non-coding_Transcript	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	310					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGCGGCATCTGGAGGTAGC	0.418000													11	60					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400165	89400165	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:89400165G>T	uc010upo.1	+	11	4723	c.4349G>T	c.(4348-4350)gGg>gTg	p.G1450V	ACAN_uc010upp.1_Missense_Mutation_p.G1450V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1450					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGATCAGCGGGCTTCCTTCT	0.512000													29	115					5.90632e-09	6.18104e-09	1	1	0
VIL1	7429	broad.mit.edu	37	2	219296838	219296838	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:219296838G>A	uc002vib.3	+	10	1295	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	VIL1_uc010zke.2_Missense_Mutation_p.D114N|VIL1_uc002via.3_Missense_Mutation_p.D425N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	425	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.D425Y(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGGCGACTGCTACCT	0.592000													6	46					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616140	73616140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:73616140G>A	uc002avp.3	-	7	3288	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	765					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)		GGTTGGGGTGGCAGAGGCAGC	0.647000													11	58					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6681634	6681634	+	Silent	SNP	C	C	G			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:6681634C>G	uc001aob.4	+	3	1211	c.840C>G	c.(838-840)tcC>tcG	p.S280S		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	280					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGGGACTCCAAGTTTGACA	0.577000													16	68					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545910	43545910	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr17:43545910C>T	uc002ija.3	-	4	1143	c.973G>A	c.(973-975)Gga>Aga	p.G325R	PLEKHM1_uc010wjm.2_Missense_Mutation_p.G297R|PLEKHM1_uc002ijb.3_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.G274R	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	325					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGGCTCAGTCCGTTGGTTGGC	0.517000													9	65					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128917277	128917277	+	Missense_Mutation	SNP	G	G	A	rs141470228	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:128917277G>A	uc002tps.3	+	22	2723	c.2545G>A	c.(2545-2547)Gcg>Acg	p.A849T	UGGT1_uc010fme.1_Missense_Mutation_p.A724T|UGGT1_uc002tpr.3_Missense_Mutation_p.A825T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	849					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTGACATTGCGGAGTTCTC	0.567000													16	69					0	0	1	0	0
PHF6	84295	broad.mit.edu	37	X	133527974	133527974	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:133527974A>G	uc004exj.3	+	4	612	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PHF6_uc004exk.3_Missense_Mutation_p.N137S|PHF6_uc011mvk.2_Missense_Mutation_p.N103S|PHF6_uc004exh.3_Missense_Mutation_p.N137S|PHF6_uc010nrr.3_Missense_Mutation_p.N137S|PHF6_uc004exi.3_Missense_Mutation_p.N137S	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	p.H136fs(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTGCACATAACTCCGAAGGT	0.294000			"""F, N, Splice, Mis"""		ETP ALL								4	70					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170052047	170052047	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:170052047G>A	uc003qwx.3	-	13	1980	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Missense_Mutation_p.S487F|WDR27_uc003qwy.3_Missense_Mutation_p.S360F	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	457										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGCATAACCAGATGACCTAAC	0.428000													8	28					0	0	1	0	0
CLDN19	149461	broad.mit.edu	37	1	43204166	43204166	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:43204166G>A	uc001cht.1	-	1	505	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CLDN19_uc001chu.2_Missense_Mutation_p.T105M|CLDN19_uc010ojv.1_Missense_Mutation_p.T105M	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	105					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCACCCGCGTACACTTCAT	0.637000													3	46					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:7838212_7838214delTCA	uc001aol.3	+	3	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	94					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365													8	270	---	---	---	---					
AADACL3	126767	broad.mit.edu	37	1	12785492	12785493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:12785492_12785493insT	uc009vnn.1	+	3	815_816	c.582_583insT	c.(580-585)tactgtfs	p.Y194fs	AADACL3_uc001aug.1_Frame_Shift_Ins_p.Y124fs	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	194							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCTGCTACTGTTTTTTTCA	0.455													7	215	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	by1000genomes	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:152082957_152082959delCTC	uc009wne.1	-	2	3006_3008	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del	TCHH_uc001ezp.2_In_Frame_Del_p.E912del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													9	208	---	---	---	---					
SIAH2	6478	broad.mit.edu	37	3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:150480449_150480451delCCG	uc003eyi.3	-	0	813_815	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	62					apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764													3	6	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87965029	87965030	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:87965029_87965030delAG	uc003plm.4	+	7	1723_1724	c.1682_1683delAG	c.(1681-1683)cagfs	p.Q561fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CGACATGCTCAGAAACATTACA	0.371													8	37	---	---	---	---					
ZNF573	126231	broad.mit.edu	37	19	38229202	38229203	+	Splice_Site	DEL	TC	TC	-	rs74268405		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr19:38229202_38229203delTC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTTCTTAATTTACC	0.332													2	4	---	---	---	---					
