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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCA7	10347	broad.mit.edu	37	19	1061844	1061844	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:1061844G>A	uc002lqw.4	+	40	5758	c.5527G>A	c.(5527-5529)Gac>Aac	p.D1843N	ABCA7_uc002lqy.3_Missense_Mutation_p.D296N|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1843	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGTGACGGGGGACACATTGGC	0.642000														33			13		0	0	0.000151284	0	0
PGAP1	80055	broad.mit.edu	37	2	197767380	197767380	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:197767380C>T	uc002utw.3	-	4	850	c.736G>A	c.(736-738)Gat>Aat	p.D246N	PGAP1_uc002utx.3_Missense_Mutation_p.D72N|PGAP1_uc002uty.1_Missense_Mutation_p.D246N|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_Missense_Mutation_p.D72N	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	246					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACTTGGTAATCCCGGAATCCT	0.353000														45			26		0	0	0.000147802	0	0
PRKCI	5584	broad.mit.edu	37	3	169940480	169940480	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:169940480G>A	uc003fgs.2	+	0	261	c.23G>A	c.(22-24)aGc>aAc	p.S8N		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	8	Regulatory domain.|Required for interaction with RAB2.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGGACAGCAGCACCATGTCC	0.731000														11			4		0	0	0.000602214	0	0
WFS1	7466	broad.mit.edu	37	4	6303094	6303094	+	Silent	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:6303094C>T	uc003giy.3	+	7	1738	c.1572C>T	c.(1570-1572)ttC>ttT	p.F524F	WFS1_uc003gix.3_Silent_p.F524F|WFS1_uc003giz.3_Silent_p.F342F	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	524					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGAGGAATTTCAAGGGCACCT	0.597000														92			63		0	0	0.000147903	0	0
NKIRAS1	28512	broad.mit.edu	37	3	23942484	23942484	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:23942484G>A	uc003ccj.3	-	3	553	c.151C>T	c.(151-153)Cga>Tga	p.R51*	NKIRAS1_uc003cck.3_Nonsense_Mutation_p.R51*	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	51					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TTTACTCCTCGGTCTGTTTCT	0.403000														114			46		0	0	0.000147903	0	0
ZNF613	79898	broad.mit.edu	37	19	52448014	52448014	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:52448014G>T	uc002pxz.2	+	5	1342	c.878G>T	c.(877-879)tGt>tTt	p.C293F	ZNF613_uc002pya.2_Missense_Mutation_p.C257F	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TGCAGTGATTGTGGAAAAGGC	0.438000														64			27		3.73988e-18	9.56083e-17	0.000147802	1	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:140811108C>T	uc021xsg.1	-	1	2234	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000														31			4		0	0	0.00024832	0	0
ACTC1	70	broad.mit.edu	37	15	35083348	35083348	+	Silent	SNP	G	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:35083348G>T	uc001ziu.1	-	5	1200	c.957C>A	c.(955-957)atC>atA	p.I319I	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	319					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCAGAGCAGTGATTTCCTTCT	0.453000														189			101		4.60726e-43	1.28114e-41	0.000147903	1	0
PC	5091	broad.mit.edu	37	11	66636376	66636376	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr11:66636376G>T	uc001ojn.1	-	7	1012	c.963C>A	c.(961-963)taC>taA	p.Y321*	PC_uc001ojo.1_Nonsense_Mutation_p.Y321*|PC_uc001ojp.1_Nonsense_Mutation_p.Y321*	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	321	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCTCGATGAAGTAGTGCTTGC	0.677000														70			32		5.91797e-21	1.58983e-19	0.000409698	1	0
IQGAP1	8826	broad.mit.edu	37	15	91009552	91009552	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:91009552G>T	uc002bpl.1	+	16	2020	c.1919G>T	c.(1918-1920)gGc>gTc	p.G640V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	640					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGTGATGTTGGCAAAACACTG	0.443000														74			28		2.4375e-19	6.43906e-18	0.000184323	1	0
NXF5	55998	broad.mit.edu	37	X	101096014	101096014	+	Nonsense_Mutation	SNP	T	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:101096014T>A	uc011mrk.1	-	7	814	c.454A>T	c.(454-456)Aag>Tag	p.K152*	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	152					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGTGATCTTCAGGGTGGCA	0.483000														224			85		0	0	0.000147903	0	0
ZNF845	91664	broad.mit.edu	37	19	53855052	53855052	+	Missense_Mutation	SNP	A	G	G	rs62115343		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:53855052A>G	uc010ydv.1	+	3	1241	c.1124A>G	c.(1123-1125)aAa>aGa	p.K375R	ZNF845_uc010ydw.1_Missense_Mutation_p.K375R	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGACATAGGAAAATTCATACT	0.403000														55			3		0	0	6.4e-05	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760836	6760836	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:6760836A>G	uc002mft.3	-	2	426	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	78	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity	p.L77F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGTTGAAAGAGGGCTGTG	0.642000														53			25		0	0	0.000117367	0	0
EIF3E	3646	broad.mit.edu	37	8	109215296	109215296	+	Silent	SNP	A	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:109215296A>T	uc003ymu.3	-	11	1243	c.1215T>A	c.(1213-1215)atT>atA	p.I405I	EIF3E_uc003ymt.3_Silent_p.I356I	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	405	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	PML body|cytosol|eukaryotic translation initiation factor 3 complex	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TGGTCTTTTCAATCACTTGCT	0.393000														59			37		0	0	0.000132358	0	0
DNM1P34	729809	broad.mit.edu	37	15	75594075	75594075	+	Splice_Site	SNP	T	G	G	rs145348085	by1000genomes	TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:75594075T>G	uc002azx.1	-	2	494	c.244_splice	c.e2-1	p.N82_splice						RecName: Full=Putative GED domain-containing protein DNM1P34; AltName: Full=DNM1 pseudogene 34;																		AAACTCCTTGTTCTGAGAGTG	0.597000														18			4		0	0	0.00024832	0	0
ERAP1	51752	broad.mit.edu	37	5	96139212	96139212	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:96139212G>A	uc003kmm.3	-	1	765	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	ERAP1_uc003kml.3_Missense_Mutation_p.L140F|ERAP1_uc010jbm.2_Intron|ERAP1_uc003kmn.3_Missense_Mutation_p.L140F	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	140					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		AGCCCGACAAGGAGGGGCTCG	0.557000														53			34		0	0	0.000132358	0	0
ADRA2B	151	broad.mit.edu	37	2	96781259	96781259	+	Silent	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr2:96781259C>T	uc021vlh.1	-	0	630	c.630G>A	c.(628-630)aaG>aaA	p.K210K		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	210					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CAGGCCCCCCCTTGGCCCTGG	0.622000														27			6		0	0	3.59834e-05	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177613306	177613306	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:177613306C>A	uc003mit.1	-	0	1128	c.995G>T	c.(994-996)aGa>aTa	p.R332I						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		CCTTAAATGTCTGAATACTGA	0.348000														41			20		8.10497e-08	1.94642e-06	0.000175454	1	0
LY6G6F	259215	broad.mit.edu	37	6	31677862	31677862	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:31677862A>T	uc003nwb.1	+	3	706	c.706A>T	c.(706-708)Att>Ttt	p.I236F	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.I236F	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	236						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CATGCCTTGGATTCTGATGCT	0.617000														29			15		0	0	0.000308642	0	0
SPEN	23013	broad.mit.edu	37	1	16258648	16258648	+	Silent	SNP	T	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr1:16258648T>C	uc001axk.1	+	10	6117	c.5913T>C	c.(5911-5913)ccT>ccC	p.P1971P	SPEN_uc010obp.1_Silent_p.P1930P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1971					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein 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)		CCAAGGAACCTGCAGAAACAC	0.597000														44			23		0	0	0.000295444	0	0
INVS	27130	broad.mit.edu	37	9	103059359	103059359	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:103059359C>A	uc004bap.1	+	14	3159	c.2947C>A	c.(2947-2949)Ccc>Acc	p.P983T	INVS_uc011lve.1_Missense_Mutation_p.P887T|INVS_uc004bao.1_Missense_Mutation_p.P813T|INVS_uc004baq.1_Missense_Mutation_p.P717T|INVS_uc004bar.1_Missense_Mutation_p.P887T|INVS_uc010mtb.1_Missense_Mutation_p.P657T	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	983					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AAGCAAGGCCCCCAAGAGTCC	0.498000														16			27		1.04121e-07	2.46317e-06	0.000117367	1	0
GNPTAB	79158	broad.mit.edu	37	12	102147162	102147162	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:102147162T>C	uc001tit.3	-	18	3782	c.3590A>G	c.(3589-3591)gAg>gGg	p.E1197G		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	1197					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding	p.E1197K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTCCTGCAGCTCATGCATATG	0.383000														41			20		0	0	0.00047179	0	0
SHD	56961	broad.mit.edu	37	19	4284873	4284873	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:4284873G>C	uc002lzw.2	+	3	2151	c.688G>C	c.(688-690)Gac>Cac	p.D230H		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	230										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCGTGTGGACCCAGCCCT	0.607000														49			3		0	0	6.4e-05	0	0
LRBA	987	broad.mit.edu	37	4	151935707	151935707	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:151935707C>A	uc010ipj.3	-	1	332	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	LRBA_uc003ilu.4_Missense_Mutation_p.G30W|LRBA_uc003ilx.2_Missense_Mutation_p.G30W|LRBA_uc021xss.1_Missense_Mutation_p.G30W	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	30						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding	p.E29K(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGCACCCCCTTCAGTAGGG	0.537000														32			19		7.45023e-12	1.81671e-10	0.000175454	1	0
ASH2L	9070	broad.mit.edu	37	8	37963231	37963231	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:37963231C>T	uc003xkt.4	+	0	221	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	ASH2L_uc011lbk.2_5'UTR|ASH2L_uc003xku.4_5'Flank|ASH2L_uc010lwa.3_5'Flank	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	55					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GACAGTTGAGCCCAGTTCCGG	0.692000														30			11		0	0	3.86212e-05	0	0
SLC27A1	376497	broad.mit.edu	37	19	17615314	17615314	+	Missense_Mutation	SNP	C	T	T	rs149575978		TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:17615314C>T	uc002ngu.1	+	11	1884	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	SLC27A1_uc010xpp.1_Missense_Mutation_p.R433C|SLC27A1_uc002ngv.1_Missense_Mutation_p.R214C	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	612					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTTTGACCCACGCCAGACCTC	0.602000														64			28		0	0	0.000117367	0	0
SLC6A18	348932	broad.mit.edu	37	5	1245991	1245991	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:1245991T>G	uc003jby.2	+	11	1808	c.1685T>G	c.(1684-1686)cTc>cGc	p.L562R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	562					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGGAGAAGCTCTACCCGGGC	0.711000														16			3		0	0	0.00024832	0	0
PRKG1	5592	broad.mit.edu	37	10	53227571	53227571	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr10:53227571C>G	uc001jjm.3	+	2	750	c.522C>G	c.(520-522)aaC>aaG	p.N174K	PRKG1_uc001jjn.2_Missense_Mutation_p.N189K|PRKG1_uc001jjo.3_Missense_Mutation_p.N189K|PRKG1_uc010qhp.2_Missense_Mutation_p.N174K	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	174					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.T174I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTCTTTACAACTGTACCCGGA	0.383000														62			33		0	0	0.000491102	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140600	39140600	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:39140600G>A	uc004abi.3	-	11	2031	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CNTNAP3_uc004abj.3_Nonsense_Mutation_p.R598*|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Nonsense_Mutation_p.R598*|CNTNAP3_uc011lqs.1_Nonsense_Mutation_p.R505*	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	598	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTCCCTCGGTGCTTGTGG	0.468000														39			26		0	0	0.000227799	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976338	7976338	+	Silent	SNP	A	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:7976338A>G	uc002mit.3	+	8	1019	c.954A>G	c.(952-954)ggA>ggG	p.G318G	MAP2K7_uc002miv.2_Silent_p.G325G|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.G193G|MAP2K7_uc010xkb.2_Silent_p.G325G	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	318	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGGCAACAGGACAGTTTCCCT	0.607000														25			11		0	0	3.86212e-05	0	0
FAM83H	286077	broad.mit.edu	37	8	144811207	144811207	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:144811207A>G	uc003yzk.3	-	3	736	c.667T>C	c.(667-669)Tcc>Ccc	p.S223P		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	223					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTTGAAGGACTTCCCAGTG	0.652000														80			36		0	0	0.000228196	0	0
CDH23	64072	broad.mit.edu	37	10	73406335	73406335	+	Silent	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr10:73406335C>T	uc001jrx.4	+	12	1794	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y	CDH23_uc001jrw.4_Silent_p.Y468Y|CDH23_uc001jry.3_Silent_p.Y468Y|CDH23_uc001jrz.3_Silent_p.Y468Y|CDH23_uc021psl.1_Silent_p.Y470Y	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	470	Cadherin 5.				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						TCAGCCTGTACGAGAACGTCA	0.577000														127			56		0	0	0.000147903	0	0
KBTBD6	89890	broad.mit.edu	37	13	41706340	41706340	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr13:41706340C>T	uc001uxu.1	-	0	597	c.308G>A	c.(307-309)gGc>gAc	p.G103D	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	103	BTB.						protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTCGTACATGCCACCTGTGAA	0.627000														24			17		0	0	0.000422831	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146747	185146747	+	Silent	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:185146747C>T	uc010hyf.3	+	2	669	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_Intron|MAP3K13_uc011bru.2_Intron|MAP3K13_uc003fpi.3_Silent_p.G126G|MAP3K13_uc010hyg.3_5'UTR	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	126					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CAGGCAGTGGCAGTGGTGGGT	0.493000														54			23		0	0	0.00047179	0	0
GSTA2	2939	broad.mit.edu	37	6	52617715	52617715	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:52617715T>A	uc003pay.3	-	4	501	c.351A>T	c.(349-351)caA>caT	p.Q117H		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	117	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GCTTGGCATCTTGTTCCTCAG	0.393000														202			114		0	0	0.000147903	0	0
CD84	8832	broad.mit.edu	37	1	160523192	160523192	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr1:160523192A>G	uc001fwh.4	-	3	815	c.736T>C	c.(736-738)Ttc>Ctc	p.F246L	CD84_uc001fwf.4_Missense_Mutation_p.F246L|CD84_uc009wtn.3_Missense_Mutation_p.F246L|CD84_uc001fwi.4_Missense_Mutation_p.F132L|CD84_uc001fwg.4_Missense_Mutation_p.F246L|CD84_uc001fwj.3_Missense_Mutation_p.F246L	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	246					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACAAACGGAACAAAAACACT	0.468000														35			21		0	0	0.000175454	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030431	129030431	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:129030431T>G	uc003kvb.1	+	18	2819	c.2819T>G	c.(2818-2820)gTg>gGg	p.V940G	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	940	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGACAACAGTGTCCTGCACA	0.348000														38			18		0	0	0.000132079	0	0
LAMA5	3911	broad.mit.edu	37	20	60927089	60927089	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr20:60927089G>T	uc002ycq.3	-	4	801	c.734C>A	c.(733-735)tCc>tAc	p.S245Y	LAMA5_uc021wfw.1_Missense_Mutation_p.S245Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	245	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCGAGTAGGAGAAATTCAT	0.637000														14			7		0.000274275	0.00639303	0.000274275	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702779	27702779	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr10:27702779A>C	uc001itu.2	-	0	519	c.401T>G	c.(400-402)gTg>gGg	p.V134G		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	134					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTGCGCGCCCACCTGCCACCC	0.672000														50			6		0	0	0.000151284	0	0
RASAL1	8437	broad.mit.edu	37	12	113565934	113565934	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:113565934T>A	uc001tun.2	-	3	473	c.172A>T	c.(172-174)Acg>Tcg	p.T58S	RASAL1_uc010syp.2_Missense_Mutation_p.T58S|RASAL1_uc001tul.3_Missense_Mutation_p.T58S|RASAL1_uc001tum.2_Missense_Mutation_p.T58S|RASAL1_uc010syq.2_Missense_Mutation_p.T58S|RASAL1_uc001tuo.4_Missense_Mutation_p.T58S|RASAL1_uc010syr.2_Missense_Mutation_p.T58S	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	58	C2 1.		T -> M (in dbSNP:rs34598602).		intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGGTGCACCGTGTACTCCTCC	0.617000														187			104		0	0	0.000147903	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608476	84608476	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr9:84608476G>C	uc004amn.3	+	3	3138	c.3091G>C	c.(3091-3093)Gat>Cat	p.D1031H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1031						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGGTACTACAGATTTTCAAAG	0.458000														308			8		0	0	0.000274275	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22775	22775	+	RNA	SNP	T	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrGL000241.1:22775T>A	uc011mgv.2	-	5		c.645A>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TCCAATTGCATCTGAATGCCC	0.328000														121			6		0	0	9.7654e-05	0	0
DMWD	1762	broad.mit.edu	37	19	46294234	46294234	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:46294234C>A	uc002pdj.1	-	1	599	c.553G>T	c.(553-555)Ggc>Tgc	p.G185C		NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	185					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCTGAGAAGCCCACCAGCAGC	0.557000														76			38		6.97489e-18	1.75479e-16	0.000159656	1	0
DCC	1630	broad.mit.edu	37	18	50683788	50683788	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr18:50683788A>T	uc002lfe.2	+	7	1940	c.1324A>T	c.(1324-1326)Agc>Tgc	p.S442C	DCC_uc010xdr.1_Missense_Mutation_p.S290C|DCC_uc010dpf.2_Missense_Mutation_p.S97C	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	442	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTGGTTTCCAGCCGATTTGT	0.532000														135			60		0	0	0.000147903	0	0
VPRBP	9730	broad.mit.edu	37	3	51457622	51457622	+	Silent	SNP	C	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:51457622C>G	uc003dbe.2	-	13	2828	c.2643G>C	c.(2641-2643)cgG>cgC	p.R881R	VPRBP_uc021wys.1_Silent_p.R880R|VPRBP_uc003dbf.1_Silent_p.R210R	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	934					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCTGGGGGGGCCGTGGCTGAG	0.592000														31			21		0	0	0.000295444	0	0
BCMO1	53630	broad.mit.edu	37	16	81298288	81298288	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:81298288A>G	uc002fgn.1	+	4	733	c.515A>G	c.(514-516)cAt>cGt	p.H172R	BCMO1_uc010vnp.1_Missense_Mutation_p.H103R	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	172					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GCAACGTCACATCCCCATTAT	0.403000														55			23		0	0	0.000586117	0	0
MED13	9969	broad.mit.edu	37	17	60040331	60040331	+	Splice_Site	SNP	T	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr17:60040331T>G	uc002izo.3	-	21	4922	c.4845_splice	c.e21-1	p.S1615_splice		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1615					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGATCCATCGTGCTAAAATTT	0.398000														83			27		0	0	0.000184323	0	0
CNOT1	23019	broad.mit.edu	37	16	58620607	58620607	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr16:58620607T>C	uc002env.3	-	6	772	c.479A>G	c.(478-480)tAc>tGc	p.Y160C	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.Y160C|CNOT1_uc002enx.3_Missense_Mutation_p.Y160C|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	160					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGCGTCAATGTAAGAACGCAG	0.458000														229			91		0	0	0.000147903	0	0
SACS	26278	broad.mit.edu	37	13	23906994	23906994	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr13:23906994T>C	uc001uon.2	-	9	11610	c.11021A>G	c.(11020-11022)aAt>aGt	p.N3674S	SACS_uc001uoo.2_Missense_Mutation_p.N3527S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3674					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTGTTCCATTTACCTCTTG	0.393000														54			35		0	0	0.000191422	0	0
CPVL	54504	broad.mit.edu	37	7	29135764	29135764	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr7:29135764G>T	uc003szv.3	-	3	477	c.358C>A	c.(358-360)Ctc>Atc	p.L120I	CPVL_uc003szw.3_Missense_Mutation_p.L120I|CPVL_uc003szx.3_Missense_Mutation_p.L120I	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	120					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCCACAAAGAGTCCAAACATG	0.468000														118			59		8.4772e-36	2.31661e-34	0.000147903	1	0
abParts	0	broad.mit.edu	37	22	22712454	22712454	+	RNA	SNP	T	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr22:22712454T>C	uc021wml.1	+	43		c.4865T>C								Parts of antibodies, mostly variable regions.																		GCCCCCAAACTCCTCATCTAT	0.572000														120			56		0	0	0.000147903	0	0
TEX11	56159	broad.mit.edu	37	X	69898664	69898664	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:69898664C>T	uc004dyl.3	-	15	1439	c.1277G>A	c.(1276-1278)aGt>aAt	p.S426N	TEX11_uc004dyk.3_Missense_Mutation_p.S101N|TEX11_uc004dym.3_Missense_Mutation_p.S411N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	426							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTCAAAACTACTGGCAGCTTG	0.338000														26			12		0	0	0.00010058	0	0
DOK7	285489	broad.mit.edu	37	4	3478168	3478168	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:3478168T>C	uc003ghd.3	+	3	501	c.431T>C	c.(430-432)aTc>aCc	p.I144T	DOK7_uc003ghe.3_Missense_Mutation_p.I144T	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	144	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCAGGGACATCCCCCCGGCT	0.632000														91			3		0	0	6.4e-05	0	0
SGSM3	27352	broad.mit.edu	37	22	40803806	40803806	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr22:40803806A>C	uc003ayu.1	+	13	1747	c.1538A>C	c.(1537-1539)aAg>aCg	p.K513T	SGSM3_uc011aos.1_Missense_Mutation_p.K446T|SGSM3_uc011aot.1_Missense_Mutation_p.K450T	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	513	SH3.				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GTGTCTCAGAAGGACGAGCAC	0.622000														54			24		0	0	0.000147802	0	0
ZHX2	22882	broad.mit.edu	37	8	123965471	123965471	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr8:123965471A>G	uc022bag.1	+	0	1721	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G	ZHX2_uc003ypk.1_Missense_Mutation_p.D574G	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	574						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAGAGATCGACTCCTGGTTC	0.512000														50			27		0	0	0.000339439	0	0
MYSM1	114803	broad.mit.edu	37	1	59125680	59125680	+	Silent	SNP	A	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr1:59125680A>G	uc009wab.2	-	19	2499	c.2476T>C	c.(2476-2478)Ttg>Ctg	p.L826L	MYSM1_uc001cza.3_Silent_p.L232L|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	826					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E825K(1)|p.E825D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CACATTAACAATTCCTTTGTA	0.299000														63			4		0	0	0.00024832	0	0
ITGB4	3691	broad.mit.edu	37	17	73746316	73746316	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr17:73746316G>A	uc002jpg.3	+	27	3628	c.3441G>A	c.(3439-3441)tgG>tgA	p.W1147*	ITGB4_uc002jph.3_Nonsense_Mutation_p.W1147*|ITGB4_uc002jpi.4_Nonsense_Mutation_p.W1147*|ITGB4_uc002jpj.3_Nonsense_Mutation_p.W1147*	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1147	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATTTCAACTGGCTGCCCCCTT	0.632000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			38		0	0	0.000374591	0	0
XRCC4	7518	broad.mit.edu	37	5	82406899	82406899	+	Silent	SNP	G	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr5:82406899G>T	uc003kib.3	+	2	320	c.192G>T	c.(190-192)ggG>ggT	p.G64G	XRCC4_uc003kia.1_Silent_p.G64G|XRCC4_uc003kic.3_Silent_p.G64G|XRCC4_uc003kid.3_Silent_p.G64G|XRCC4_uc003kie.3_Silent_p.G64G	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA.	64					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGGAAAAAGGGAAATATGTTG	0.338000								Non-homologous end-joining						29			16		1.56452e-12	3.87464e-11	9.7654e-05	1	0
GMPS	8833	broad.mit.edu	37	3	155654202	155654202	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr3:155654202A>T	uc003faq.3	+	14	2218	c.1883A>T	c.(1882-1884)cAg>cTg	p.Q628L	GMPS_uc011bom.2_Missense_Mutation_p.Q529L	NM_003875	NP_003866	P49915	GUAA_HUMAN	Homo sapiens guanine monphosphate synthetase (GMPS), mRNA.	628					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCAAAAGCAGCCTTCATGC	0.443000			T	MLL	AML									108			43		0	0	0.000437636	0	0
TRIM2	23321	broad.mit.edu	37	4	154237027	154237027	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr4:154237027delG	uc003inh.2	+	7	1743	c.1658delG	c.(1657-1659)cggfs	p.R553fs	TRIM2_uc003ing.2_Frame_Shift_Del_p.R526fs	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	526						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)		TTTGGCATACGGGGACGCTCT	0.463													---	84	---	---	52	---					
TMEM30A	55754	broad.mit.edu	37	6	75975041	75975042	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr6:75975041_75975042delAT	uc003phw.2	-	2	636_637	c.358_359delAT	c.(358-360)atgfs	p.M120fs	TMEM30A_uc003phx.2_Frame_Shift_Del_p.M84fs	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	120						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCATAATACATAAACACGTTG	0.327													---	21	---	---	14	---					
TBX3	6926	broad.mit.edu	37	12	115112487	115112488	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:115112487_115112488delGC	uc001tvt.1	-	6	2216_2217	c.1252_1253delGC	c.(1252-1254)gctfs	p.A418fs	TBX3_uc001tvu.1_Frame_Shift_Del_p.A398fs	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	418					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCGCTCAGCAGCGAAAAGGTGA	0.718													---	11	---	---	8	---					
EP400	57634	broad.mit.edu	37	12	132445250	132445251	+	Frame_Shift_Ins	INS	-	G	G			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr12:132445250_132445251insG	uc001ujn.3	+	1	238_239	c.86_87insG	c.(85-87)ccgfs	p.P29fs	EP400_uc021rgq.1_Frame_Shift_Ins_p.P29fs|EP400_uc001ujm.3_Frame_Shift_Ins_p.P29fs|EP400_uc001ujj.2_Frame_Shift_Ins_p.P29fs|EP400_uc001ujk.3_Frame_Shift_Ins_p.P29fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	29					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		GAGGAGCAGCCGGCCCACCCCA	0.653													---	9	---	---	4	---					
CHRFAM7A	89832	broad.mit.edu	37	15	30665308	30665308	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr15:30665308delA	uc001zdt.1	-	5	767	c.201delT	c.(199-201)tttfs	p.F67fs	DKFZP434L187_uc001zds.2_Non-coding_Transcript|CHRFAM7A_uc001zdu.1_5'UTR|CHRFAM7A_uc010azn.2_5'UTR|CHRFAM7A_uc001zdv.3_Non-coding_Transcript	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	67						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CATCAAAGGGAAACCAGCGTA	0.483													---	85	---	---	35	---					
LOC100131094	100131094	broad.mit.edu	37	19	4682879	4682880	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr19:4682879_4682880delAG	uc021ung.1	+	1	325_326	c.9_10delAG	c.(7-12)gcagagfs	p.A3fs	DPP9_uc002mba.3_Intron	NM_001242901	NP_001229830			Homo sapiens uncharacterized LOC100131094 (LOC100131094), mRNA.																		AGATGGGGGCAGAGAGAGAGAG	0.663													---	4	---	---	2	---					
CBR1	873	broad.mit.edu	37	21	37442617	37442626	+	Frame_Shift_Del	DEL	GAGCATCCGC	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr21:37442617_37442626delGAGCATCCGC	uc002yvb.1	+	0	333_342	c.204_213delGAGCATCCGC	c.(202-213)cagagcatccgcfs	p.Q68fs	LOC100133286_uc011aea.1_Non-coding_Transcript|SETD4_uc002yva.3_Intron|CBR1_uc010gmx.1_Frame_Shift_Del_p.Q68fs|CBR1_uc010gmy.1_Frame_Shift_Del_p.Q68fs	NM_001757	NP_001748	P16152	CBR1_HUMAN	Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	68					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	ACGATCTGCAGAGCATCCGCGCCCTGCGCG	0.700													---	41	---	---	9	---					
KCNJ15	3772	broad.mit.edu	37	21	39672237	39672239	+	In_Frame_Del	DEL	GAG	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chr21:39672237_39672239delGAG	uc021wjc.1	+	0	1054_1056	c.1054_1056delGAG	c.(1054-1056)gagdel	p.E353del	KCNJ15_uc002ywv.3_In_Frame_Del_p.E353del|KCNJ15_uc002yww.3_In_Frame_Del_p.E353del|KCNJ15_uc002ywx.3_In_Frame_Del_p.E353del	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	353					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						ACAGCAACTCGAGGAGAAGTACA	0.443													---	49	---	---	18	---					
XIST	7503	broad.mit.edu	37	X	73071036	73071061	+	RNA	DEL	AAACCCGCCATCTTTAACAATGCGGC	-	-			TCGA-BQ-7053-01A-11D-1961-08	TCGA-BQ-7053-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95c43067-a2b1-4cdb-b018-47b3210fd396	d525dfc6-e5f2-40a6-b090-ecfc5e8c5f18	g.chrX:73071036_73071061delAAACCCGCCATCTTTAACAATGCGGC	uc004ebm.1	-	0		c.1528_1553delGCCGCATTGTTAAAGATGGCGGGTTT								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTAGGCGGCAAAACCCGCCATCTTTAACAATGCGGCAAGCCCGCCA	0.513													---	227	---	---	7	---					
