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
CPEB1	64506	broad.mit.edu	37	15	83226611	83226611	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:83226611G>A	ENST00000563800.1	-	4	2311	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	CPEB1_ENST00000423133.2_Missense_Mutation_p.R94C|CPEB1_ENST00000562019.1_Missense_Mutation_p.R169C|CPEB1_ENST00000564522.1_Missense_Mutation_p.R94C|CPEB1_ENST00000568128.1_Missense_Mutation_p.R169C|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.R94C|CPEB1_ENST00000450751.2_Missense_Mutation_p.R94C|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000261723.6_Missense_Mutation_p.R172C|CPEB1_ENST00000568757.1_Missense_Mutation_p.R94C			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	169	Ser-rich.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTGTCCAGGCGTGATCCTCTA	0.552000													12	327					0	0	0.387290	0	0
C11orf63	79864	broad.mit.edu	37	11	122805736	122805736	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:122805736C>T	ENST00000227349.2	+	5	1884	c.1587C>T	c.(1585-1587)ctC>ctT	p.L529L	C11orf63_ENST00000531316.1_Silent_p.L529L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	529										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAAACAACTCAAACAGCCTT	0.368000													33	324					0	0	0.769981	0	0
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:124887093C>T	ENST00000356219.3	-	15	1652	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617000													4	30					0	0	0.150653	0	0
AP2B1	163	broad.mit.edu	37	17	33977630	33977630	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:33977630G>A	ENST00000262325.7	+	13	2171	c.1618G>A	c.(1618-1620)Gta>Ata	p.V540I	AP2B1_ENST00000312678.8_Missense_Mutation_p.V540I|AP2B1_ENST00000589344.1_Missense_Mutation_p.V540I|AP2B1_ENST00000538556.1_Missense_Mutation_p.V483I|AP2B1_ENST00000537622.2_Missense_Mutation_p.V540I|AP2B1_ENST00000592545.1_Missense_Mutation_p.V502I|AP2B1_ENST00000545922.2_3'UTR	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	540					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTAAAGAAGTAGTCTTGTC	0.473000													47	572					0	0	0.864702	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:155887393T>G	ENST00000368320.3	-	11	1362	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P			Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000													12	111					0	0	0.479597	0	0
GLI1	2735	broad.mit.edu	37	12	57861870	57861870	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:57861870G>A	ENST00000228682.2	+	10	1262	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	GLI1_ENST00000546141.1_Missense_Mutation_p.A350T|GLI1_ENST00000543426.1_Missense_Mutation_p.A263T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	391					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGTCCTGACGCCCATGTGAC	0.572000													14	243					0	0	0.500413	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	145					0	0	0.500413	0	0
PRKCH	5583	broad.mit.edu	37	14	61789073	61789073	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:61789073C>T	ENST00000332981.5	+	1	639	c.254C>T	c.(253-255)gCc>gTc	p.A85V	RP11-902B17.1_ENST00000500036.2_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	85	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	p.A85V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTCGAGTTGGCCGTCTTCCAC	0.642000													5	267					0	0	0.217242	0	0
ADNP2	22850	broad.mit.edu	37	18	77896690	77896690	+	Nonstop_Mutation	SNP	T	T	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:77896690T>A	ENST00000262198.4	+	4	3849	c.3394T>A	c.(3394-3396)Taa>Aaa	p.*1132K		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	0					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATATGAACCATAAAACTTGCA	0.303000													11	44					0	0	0.479597	0	0
TFPI	7035	broad.mit.edu	37	2	188343525	188343525	+	Missense_Mutation	SNP	T	T	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:188343525T>C	ENST00000409676.1	-	8	898	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000233156.3_Intron|TFPI_ENST00000339091.4_Missense_Mutation_p.K212E			P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	0					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	GTTCCTTCTTTTGTAACTGTG	0.378000													20	190					0	0	0.639603	0	0
ULK4	54986	broad.mit.edu	37	3	41504591	41504591	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:41504591C>A	ENST00000301831.4	-	33	3842	c.3380G>T	c.(3379-3381)cGg>cTg	p.R1127L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1127							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CAAAGCCAGCCGTACAATACC	0.443000													33	347					6.00712e-18	6.8331e-18	0.760397	1	0
NLRP10	338322	broad.mit.edu	37	11	7981305	7981305	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:7981305A>T	ENST00000328600.2	-	2	2015	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	618							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGACAGAAGGACATTTTTGCT	0.398000													14	333					0	0	0.435327	0	0
FBN3	84467	broad.mit.edu	37	19	8206691	8206691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:8206691G>A	ENST00000600128.1	-	8	1189	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q259*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q259*			Q75N90	FBN3_HUMAN	fibrillin 3	259	EGF-like 2; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGCCTCcctggcacaggcct	0.622000													18	262					0	0	0.592651	0	0
ANO3	63982	broad.mit.edu	37	11	26619970	26619970	+	Missense_Mutation	SNP	C	C	A	rs141900098		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:26619970C>A	ENST00000256737.3	+	15	2358	c.1506C>A	c.(1504-1506)gaC>gaA	p.D502E	ANO3_ENST00000537978.1_Missense_Mutation_p.D486E|ANO3_ENST00000531568.1_Missense_Mutation_p.D356E|ANO3_ENST00000525139.1_Missense_Mutation_p.D486E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	502						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATACTTGGGACCTTATCGAAT	0.388000													22	415					4.26978e-12	4.73841e-12	0.654019	1	0
NONO	4841	broad.mit.edu	37	X	70519912	70519912	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:70519912C>T	ENST00000535149.1	+	10	1778	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	NONO_ENST00000373841.1_Missense_Mutation_p.R468C|NONO_ENST00000276079.8_Missense_Mutation_p.R468C|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R468C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	468					DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCCAAACAAACGTCGCCGATA	0.468000			T	TFE3	papillary renal cancer								30	480					0	0	0.769981	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771274	43771274	+	Missense_Mutation	SNP	C	C	T	rs112430320		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:43771274C>T	ENST00000389420.3	-	32	4888	c.4889G>A	c.(4888-4890)cGg>cAg	p.R1630Q		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACTATAGGCCGAAGTCGATG	0.413000													7	162					0	0	0.307466	0	0
GAS6	2621	broad.mit.edu	37	13	114535842	114535842	+	Missense_Mutation	SNP	A	A	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr13:114535842A>C	ENST00000357389.3	-	9	999	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000355761.4_Intron|GAS6_ENST00000327773.6_Intron|GAS6_ENST00000450766.1_Intron|GAS6_ENST00000418959.3_5'UTR			Q14393	GAS6_HUMAN	growth arrest-specific 6	283					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGGAGTGGCCACCCCGCCTCT	0.711000													8	21					0	0	0.654019	0	0
TTN	7273	broad.mit.edu	37	2	179569272	179569272	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179569272C>T	ENST00000589042.1	-	105	30151	c.29927G>A	c.(29926-29928)gGt>gAt	p.G9976D	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G9659D|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G8732D|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9659	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTGTGGACCACAAACCAA	0.383000													8	185					0	0	0.278610	0	0
LINC00969	0	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													10	77					0	0	0.387290	0	0
SPAG17	200162	broad.mit.edu	37	1	118535130	118535130	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:118535130T>G	ENST00000336338.5	-	36	5385	c.5320A>C	c.(5320-5322)Ata>Cta	p.I1774L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1774						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCATTCTTTATGACCTCATGC	0.473000													13	547					0	0	0.457914	0	0
EMR2	30817	broad.mit.edu	37	19	14854232	14854232	+	Splice_Site	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:14854232C>T	ENST00000315576.3	-	20	2914	c.2463_splice	c.e20+1	p.T821_splice	EMR2_ENST00000392967.2_Splice_Site_p.T810_splice|EMR2_ENST00000353876.1_Splice_Site_p.T728_splice|EMR2_ENST00000594076.1_Splice_Site_p.T728_splice|EMR2_ENST00000594294.1_Splice_Site_p.T772_splice|EMR2_ENST00000596991.2_Splice_Site_p.T810_splice|EMR2_ENST00000392965.3_Splice_Site_p.T763_splice|EMR2_ENST00000595839.1_Splice_Site_p.T679_splice|EMR2_ENST00000346057.1_Splice_Site_p.T772_splice|EMR2_ENST00000601345.1_Splice_Site_p.T810_splice|EMR2_ENST00000353005.1_Splice_Site_p.T679_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	821					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGATCTTACCGTGCTGGGTT	0.507000													10	754					0	0	0.411799	0	0
SULF1	23213	broad.mit.edu	37	8	70512900	70512900	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:70512900C>A	ENST00000260128.4	+	9	1514	c.797C>A	c.(796-798)cCa>cAa	p.P266Q	SULF1_ENST00000458141.2_Missense_Mutation_p.P266Q|SULF1_ENST00000419716.3_Missense_Mutation_p.P266Q|SULF1_ENST00000402687.4_Missense_Mutation_p.P266Q|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	266					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACACAGGACCAATGCTGCCC	0.393000													18	533					5.35267e-07	5.79872e-07	0.557998	1	0
KCNJ2	3759	broad.mit.edu	37	17	68172063	68172063	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:68172063G>A	ENST00000243457.3	+	2	1266	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V295M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	295					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CTTTGAAATCGTGGTCATACT	0.458000													13	303					0	0	0.435327	0	0
EPHA5	2044	broad.mit.edu	37	4	66197831	66197831	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:66197831C>A	ENST00000273854.3	-	17	3468	c.2868G>T	c.(2866-2868)ttG>ttT	p.L956F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L957F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L934F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L793F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	956					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TATGTTCTGCCAATAAATTAG	0.323000										TSP Lung(17;0.13)			7	155					0.00198382	0.00200586	0.248553	1	0
C12orf40	283461	broad.mit.edu	37	12	40044057	40044057	+	Missense_Mutation	SNP	G	G	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:40044057G>C	ENST00000324616.5	+	7	741	c.587G>C	c.(586-588)tGt>tCt	p.C196S	C12orf40_ENST00000398716.1_Missense_Mutation_p.C119S|C12orf40_ENST00000405531.3_Missense_Mutation_p.C196S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	196										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTGTTAACTGTTCTGATTCC	0.279000													3	149					0	0	0.115264	0	0
LINC00969	0	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													10	76					0	0	0.387290	0	0
ATG2B	55102	broad.mit.edu	37	14	96790267	96790267	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:96790267C>T	ENST00000359933.4	-	16	3399	c.2506G>A	c.(2506-2508)Gat>Aat	p.D836N		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	836										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATGTTGTATCTCCATCTACT	0.348000													11	274					0	0	0.411799	0	0
HFM1	164045	broad.mit.edu	37	1	91851171	91851171	+	Missense_Mutation	SNP	G	G	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:91851171G>T	ENST00000370425.3	-	5	813	c.715C>A	c.(715-717)Cca>Aca	p.P239T	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	239							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GAAAAAGATGGTGCTTTGAAC	0.338000													9	272					0.000442599	0.000457688	0.335167	1	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726000													7	31					0	0	0.592651	0	0
MMEL1	79258	broad.mit.edu	37	1	2530110	2530110	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:2530110G>A	ENST00000288709.6	-	12	1374	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	MMEL1_ENST00000502556.1_Silent_p.I230I|MMEL1_ENST00000378412.3_Silent_p.I387I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	387					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGTAGGTGTCGATGATGTTTT	0.542000													27	313					0	0	0.681144	0	0
MCM4	4173	broad.mit.edu	37	8	48887486	48887486	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:48887486C>T	ENST00000262105.2	+	14	2538	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	MCM4_ENST00000523944.1_Missense_Mutation_p.R777W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	777					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AACTGATCCCCGGACTGGCAT	0.408000													14	404					0	0	0.435327	0	0
FOCAD	54914	broad.mit.edu	37	9	20789554	20789554	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:20789554C>T	ENST00000380249.1	+	13	1766	c.1402C>T	c.(1402-1404)Ctt>Ttt	p.L468F	FOCAD_ENST00000338382.6_Missense_Mutation_p.L468F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	468						integral to membrane	binding										AGGACAAAATCTTCACCAAAT	0.438000													31	364					0	0	0.750413	0	0
RP11-726G1.1	0	broad.mit.edu	37	12	9713413	9713413	+	RNA	SNP	A	A	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:9713413A>G	ENST00000520314.1	+	0	608																											TGTATTACAGACTCAGTGCTC	0.358000													2	9					0	0	0.150653	0	0
UBA1	7317	broad.mit.edu	37	X	47058941	47058941	+	Silent	SNP	T	T	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:47058941T>C	ENST00000335972.6	+	5	591	c.408T>C	c.(406-408)gcT>gcC	p.A136A	UBA1_ENST00000377351.4_Silent_p.A136A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	136	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCCGCCTCGCTGAGCTCAACA	0.547000													18	525					0	0	0.520397	0	0
CYP46A1	10858	broad.mit.edu	37	14	100182237	100182237	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:100182237C>T	ENST00000554176.1	+	3	991	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	CYP46A1_ENST00000261835.3_Missense_Mutation_p.R262W|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R165W			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	262					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCAGCGCCGCCGGGAAGCCCT	0.657000													9	248					0	0	0.307466	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29974681	29974681	+	RNA	SNP	G	G	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:29974681G>C	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							GTTCGTGCGGGTCGACAGTGA	0.662000													5	52					0	0	0.184627	0	0
KDM6A	7403	broad.mit.edu	37	X	44936003	44936003	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:44936003A>T	ENST00000377967.4	+	18	2805	c.2764A>T	c.(2764-2766)Aga>Tga	p.R922*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R843*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R929*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R877*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	922					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCCACCTCCAAGACCACCATC	0.373000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								21	445					0	0	0.608945	0	0
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612000													19	377					0	0	0.575678	0	0
FAT3	120114	broad.mit.edu	37	11	92616466	92616466	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:92616466G>A	ENST00000298047.6	+	23	12861	c.12844G>A	c.(12844-12846)Gtg>Atg	p.V4282M	FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4282					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGCGTGGTCGTGTGCAGTGT	0.657000										TCGA Ovarian(4;0.039)			19	333					0	0	0.557998	0	0
MEFV	4210	broad.mit.edu	37	16	3299561	3299561	+	Missense_Mutation	SNP	C	C	T	rs144998416		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:3299561C>T	ENST00000219596.1	-	3	1169	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	MEFV_ENST00000536379.1_Missense_Mutation_p.R166H|MEFV_ENST00000541159.1_Missense_Mutation_p.R166H|MEFV_ENST00000339854.4_Missense_Mutation_p.R197H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	377					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R377H(1)|p.R166H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTTCAGGTGGCGCTTACACTG	0.647000													21	244					0	0	0.608945	0	0
KALRN	8997	broad.mit.edu	37	3	124103747	124103747	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:124103747C>T	ENST00000360013.3	+	11	1947	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KALRN_ENST00000460856.1_Missense_Mutation_p.T607M|KALRN_ENST00000240874.3_Missense_Mutation_p.T607M	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGCTCAGACGGGGGAATGT	0.577000													12	384					0	0	0.387290	0	0
FAM208A	23272	broad.mit.edu	37	3	56662562	56662562	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:56662562C>T	ENST00000431842.2	-	12	3441	c.2517G>A	c.(2515-2517)ttG>ttA	p.L839L	FAM208A_ENST00000355628.5_Silent_p.L1215L|FAM208A_ENST00000493960.2_Silent_p.L1276L	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1276										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GAATAATAATCAATAGTTTAT	0.274000													18	197					0	0	0.539581	0	0
REM1	28954	broad.mit.edu	37	20	30064350	30064350	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:30064350C>T	ENST00000201979.2	+	2	395	c.102C>T	c.(100-102)agC>agT	p.S34S	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	34					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.S34R(2)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCCGCCTGAGCACAGTGCCTT	0.642000													40	375					0	0	0.804634	0	0
CPA2	1358	broad.mit.edu	37	7	129909574	129909574	+	Silent	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:129909574C>T	ENST00000222481.4	+	3	274	c.219C>T	c.(217-219)aaC>aaT	p.N73N		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	73					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCTTCGTCAACGTCCAGGCAG	0.502000													20	351					0	0	0.557998	0	0
NR2F1	7025	broad.mit.edu	37	5	92923762	92923762	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:92923762G>A	ENST00000327111.3	+	2	2290	c.603G>A	c.(601-603)tcG>tcA	p.S201S		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	201					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACCCCACGTCGCGCTACGGCA	0.667000													14	393					0	0	0.520397	0	0
LINC00264	0	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													5	127					0	0	0.184627	0	0
TTC30A	92104	broad.mit.edu	37	2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:178482747C>T	ENST00000355689.4	-	1	947	c.683G>A	c.(682-684)gGc>gAc	p.G228D	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	228					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527000													5	302					0	0	0.217242	0	0
UBR4	23352	broad.mit.edu	37	1	19455510	19455510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:19455510G>A	ENST00000375267.2	-	61	8968	c.8965C>T	c.(8965-8967)Cga>Tga	p.R2989*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2965*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2989*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2982*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2989					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCAACGTTTCGTAATTGAGGC	0.502000													23	433					0	0	0.639603	0	0
PTPRM	5797	broad.mit.edu	37	18	7774244	7774244	+	Silent	SNP	G	G	A	rs145799313		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:7774244G>A	ENST00000332175.8	+	2	1208	c.171G>A	c.(169-171)ccG>ccA	p.P57P	PTPRM_ENST00000580170.1_Silent_p.P57P|PTPRM_ENST00000400053.4_5'UTR|PTPRM_ENST00000400060.4_Silent_p.P57P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	57	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGACTAAACCGACTTCTGATC	0.403000													12	444					0	0	0.479597	0	0
COL5A1	1289	broad.mit.edu	37	9	137593108	137593108	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:137593108G>A	ENST00000371817.3	+	4	997	c.583G>A	c.(583-585)Gac>Aac	p.D195N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	195	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGACCGCAGCGACCACCCCAT	0.527000													9	135					0	0	0.335167	0	0
NCOA6	23054	broad.mit.edu	37	20	33324555	33324555	+	Silent	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324555C>A	ENST00000374796.2	-	13	8471	c.5901G>T	c.(5899-5901)tcG>tcT	p.S1967S	NCOA6_ENST00000359003.2_Silent_p.S1967S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1967	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTAAATTCTGCGACGGGGCTA	0.418000													19	181					3.99206e-14	4.4849e-14	0.557998	1	0
FBXW11	23291	broad.mit.edu	37	5	171303381	171303381	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:171303381G>A	ENST00000296933.6	-	8	1397	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	FBXW11_ENST00000265094.5_Missense_Mutation_p.R356C|FBXW11_ENST00000425623.2_Missense_Mutation_p.R324C|FBXW11_ENST00000393802.2_Missense_Mutation_p.R322C	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	356					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGACACGGCGTAAAGTGATG	0.522000													4	131					0	0	0.150653	0	0
MMP9	4318	broad.mit.edu	37	20	44641961	44641961	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:44641961G>A	ENST00000372330.3	+	9	1417	c.1398G>A	c.(1396-1398)acG>acA	p.T466T		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CTCCCCCGACGGTCTGCCCCA	0.687000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	463					0	0	0.870114	0	0
TRIM40	135644	broad.mit.edu	37	6	30104878	30104878	+	Missense_Mutation	SNP	A	A	G			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:30104878A>G	ENST00000396581.1	+	2	451	c.65A>G	c.(64-66)aAg>aGg	p.K22R	TRIM40_ENST00000376724.2_Missense_Mutation_p.K22R|TRIM40_ENST00000307859.4_Missense_Mutation_p.K22R|TRIM40_ENST00000489892.1_3'UTR			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	22						intracellular	zinc ion binding			ovary(1)	1						GAGAGCCTGAAGGAGGCCGTG	0.602000													8	290					0	0	0.278610	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	259					0	0	0.435327	0	0
QKI	9444	broad.mit.edu	37	6	163987788	163987788	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:163987788C>T	ENST00000361752.3	+	7	1521	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	QKI_ENST00000361195.2_Missense_Mutation_p.R316C|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_3'UTR|QKI_ENST00000275262.7_3'UTR	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	324					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCACGATATGCGTGTCCATCC	0.413000													10	156					0	0	0.361761	0	0
SGK2	10110	broad.mit.edu	37	20	42198157	42198157	+	Splice_Site	SNP	G	G	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:42198157G>T	ENST00000373100.1	+	7	820		c.e7+1		SGK2_ENST00000373092.3_Splice_Site|SGK2_ENST00000485914.1_Splice_Site|SGK2_ENST00000341458.4_Splice_Site|SGK2_ENST00000426287.1_Splice_Site|SGK2_ENST00000373077.1_Splice_Site|SGK2_ENST00000423407.3_Splice_Site			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2						intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CGGGGGAGAGGTGGGTGGGCC	0.607000													19	287					3.83957e-06	4.1106e-06	0.639603	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21792810	21792810	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:21792810C>T	ENST00000206660.6	+	14	1796	c.1796C>T	c.(1795-1797)cCg>cTg	p.P599L	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P599L|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R8C|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P561L|RPGRIP1_ENST00000553500.1_3'UTR			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	599					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCACCCGACCGTTGTCGTTA	0.473000													15	419					0	0	0.500413	0	0
RGS21	431704	broad.mit.edu	37	1	192321195	192321195	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:192321195G>A	ENST00000417209.2	+	4	281	c.107G>A	c.(106-108)cGa>cAa	p.R36Q		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	36	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATGCTTTTCGAATATTTCTA	0.299000													17	158					0	0	0.575678	0	0
CNTN5	53942	broad.mit.edu	37	11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCGAATGATCCGCACAAATGA	0.443000													4	137					0	0	0.150653	0	0
LILRA1	11024	broad.mit.edu	37	19	55106342	55106342	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:55106342C>T	ENST00000453777.1	+	4	453	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R95W	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACACACAGGGCGGTATCGCTG	0.572000													16	450					0	0	0.557998	0	0
SRRM2	23524	broad.mit.edu	37	16	2817974	2817974	+	Missense_Mutation	SNP	C	C	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:2817974C>T	ENST00000301740.8	+	11	7994	c.7445C>T	c.(7444-7446)aCg>aTg	p.T2482M	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2482	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCAGTGGCAACGACCACGTCC	0.602000													12	333					0	0	0.411799	0	0
RNF213	57674	broad.mit.edu	37	17	78321227	78321227	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:78321227G>A	ENST00000582970.1	+	29	9235	c.9092G>A	c.(9091-9093)gGt>gAt	p.G3031D	RNF213_ENST00000508628.2_Missense_Mutation_p.G3080D|RNF213_ENST00000336301.6_Missense_Mutation_p.G1104D	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGTGCCGGGTGGAGAGCAG	0.547000													20	243					0	0	0.575678	0	0
CROCCP2	0	broad.mit.edu	37	1	16958063	16958063	+	RNA	SNP	C	C	T	rs2779441	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:16958063C>T	ENST00000412962.1	-	0	74																											AGCCCCTCTCCATCCTCTGTC	0.652000													7	57					0	0	0.278610	0	0
CSMD2	114784	broad.mit.edu	37	1	34209014	34209014	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:34209014G>A	ENST00000373381.4	-	14	2216	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGGGCGCCTCGGCGGTGGCCC	0.612000													33	401					0	0	0.769981	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	125					0	0	0.457914	0	0
NCOA6	23054	broad.mit.edu	37	20	33324554	33324554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:33324554G>A	ENST00000374796.2	-	13	8472	c.5902C>T	c.(5902-5904)Cag>Tag	p.Q1968*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.Q1968*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1968	EP300/CRSP3-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACTAAATTCTGCGACGGGGCT	0.423000													20	182					0	0	0.575678	0	0
ALOX15B	247	broad.mit.edu	37	17	7942847	7942847	+	Silent	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:7942847G>A	ENST00000380183.4	+	2	430	c.291G>A	c.(289-291)ccG>ccA	p.P97P	ALOX15B_ENST00000572022.1_Silent_p.P97P|ALOX15B_ENST00000573359.1_Silent_p.P97P|ALOX15B_ENST00000380173.2_Silent_p.P97P	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	97	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGACACCGCCGCGGGGCGGCC	0.746000													4	29					0	0	0.184627	0	0
DFNB59	494513	broad.mit.edu	37	2	179319081	179319081	+	Silent	SNP	G	G	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:179319081G>C	ENST00000409117.3	+	3	590	c.234G>C	c.(232-234)ctG>ctC	p.L78L	DFNB59_ENST00000375129.4_Silent_p.L78L	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	78					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAATTACTGAATTATGAAG	0.299000													18	328					0	0	0.592651	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:115080343G>T	ENST00000537058.1	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T			Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													6	231					1.12685e-05	1.19237e-05	0.307466	1	0
GPR68	0	broad.mit.edu	37	14	91700906	91700906	+	Silent	SNP	G	G	A	rs145413696		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:91700906G>A	ENST00000531499.2	-	2	828	c.489C>T	c.(487-489)atC>atT	p.I163I	GPR68_ENST00000238699.3_Silent_p.I173I|GPR68_ENST00000535815.1_Silent_p.I163I			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	163					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TCTCGTCCTCGATGACCTCCT	0.617000													9	138					0	0	0.361761	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492919	21492919	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr20:21492919G>A	ENST00000377142.4	-	2	820	c.464C>T	c.(463-465)gCg>gTg	p.A155V	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	155					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCGCTCGGGCGCCGACAGGTA	0.672000													5	131					0	0	0.184627	0	0
C8A	731	broad.mit.edu	37	1	57378141	57378141	+	Missense_Mutation	SNP	C	C	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:57378141C>A	ENST00000361249.3	+	10	1542	c.1446C>A	c.(1444-1446)aaC>aaA	p.N482K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	482	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCGCCAGAACCTGCGCCGCG	0.622000													14	494					1.49906e-05	1.56798e-05	0.457914	1	0
ST5	6764	broad.mit.edu	37	11	8724252	8724252	+	Missense_Mutation	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:8724252G>A	ENST00000534127.1	-	17	2972	c.2587C>T	c.(2587-2589)Cgg>Tgg	p.R863W	ST5_ENST00000530438.1_Missense_Mutation_p.R443W|ST5_ENST00000526099.1_Missense_Mutation_p.R376W|ST5_ENST00000526757.1_Missense_Mutation_p.R443W|ST5_ENST00000534278.1_Missense_Mutation_p.R54W|ST5_ENST00000357665.1_Missense_Mutation_p.R863W|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R335W|ST5_ENST00000313726.6_Missense_Mutation_p.R863W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	863	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCCATGGGCCGCCGCAGCTCT	0.612000													13	288					0	0	0.435327	0	0
MIR10B	0	broad.mit.edu	37	2	177015088	177015088	+	RNA	SNP	G	G	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:177015088G>A	ENST00000385011.1	+	0	58					NR_029609.1																						TGTGGTATCCGTATAGTCACA	0.473000													29	328					0	0	0.729181	0	0
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttc>t	p.FI89del	VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	89					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													9	1057	---	---	---	---					
WDR78	79819	broad.mit.edu	37	1	67390426	67390426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:67390426delT	ENST00000371026.3	-	1	144	c.89delA	c.(88-90)agfs	p.K30fs	WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	30										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCACCACCCCTTTTTTTGGCC	0.622													10	819	---	---	---	---					
RP11-417J8.6	0	broad.mit.edu	37	1	142647307	142647307	+	RNA	DEL	G	G	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr1:142647307delG	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							gtgtgtgtgtgtgtgtgtgtg	0.398													2	4	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910404	2910404	+	RNA	DEL	C	C	-	rs12612636		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:2910404delC	ENST00000457478.1	-	0	594																											caccccctctccccagcccac	0.662													2	4	---	---	---	---					
AC019118.2	0	broad.mit.edu	37	2	2910722	2910723	+	RNA	INS	-	-	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708													7	23	---	---	---	---					
AC108488.3	0	broad.mit.edu	37	2	3608128	3608131	+	RNA	DEL	TTCT	TTCT	-	rs77904732		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:3608128_3608131delTTCT	ENST00000438436.1	+	0	789				AC108488.3_ENST00000426725.1_RNA	NR_038429.1																						ccttccttccttcttctttccttc	0.397													4	7	---	---	---	---					
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)del	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576													8	457	---	---	---	---					
RP11-333I13.1	0	broad.mit.edu	37	2	47006122	47006123	+	RNA	DEL	AC	AC	-	rs72216853		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:47006122_47006123delAC	ENST00000568862.1	+	0	1201_1202																											AGGGCTGAATacacacacacac	0.386													3	3	---	---	---	---					
AC079807.4	0	broad.mit.edu	37	2	48359751	48359752	+	RNA	DEL	AC	AC	-	rs72171602		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:48359751_48359752delAC	ENST00000447571.1	-	0	240																		p.0?(2)									acacacacaaacacacacacac	0.475													5	3	---	---	---	---					
GAD1	2571	broad.mit.edu	37	2	171702549	171702549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr2:171702549delA	ENST00000358196.3	+	10	1528	c.978delA	c.(976-978)gcfs	p.A326fs		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	326					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATTTTGAGGCAAAAATTCTTG	0.353													7	476	---	---	---	---					
P2RY13	53829	broad.mit.edu	37	3	151046142	151046142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr3:151046142delT	ENST00000325602.5	-	2	721	c.702delA	c.(700-702)aafs	p.K234fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	234						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AATCATATACTTTTTTTGCAA	0.338													7	375	---	---	---	---					
SCLT1	132320	broad.mit.edu	37	4	129864162	129864163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr4:129864162_129864163insT	ENST00000281142.5	-	17	2123_2124	c.1620_1621insA	c.(1618-1623)aaccaafs	p.NQ540fs	SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	540						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTACTTTGGCTTTTTTTTGAG	0.356													7	649	---	---	---	---					
RP11-6N13.1	0	broad.mit.edu	37	5	103975280	103975287	+	RNA	DEL	ACACACAC	ACACACAC	-	rs112084633		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:103975280_103975287delACACACAC	ENST00000503650.1	-	0	328																											AGTCCTAGGAacacacacacacacacac	0.356													3	3	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													4	5	---	---	---	---					
PRRC2A	7916	broad.mit.edu	37	6	31597456	31597457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr6:31597456_31597457insC	ENST00000376033.2	+	14	2322_2323	c.2088_2089insC	c.(2086-2091)ccccccfs	p.PP696fs	PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.PP696fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	696	4 X 57 AA type A repeats.|Poly-Pro.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CACAGGCTCCACCCCCGCCCCC	0.649													8	153	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103629803	103629804	+	Translation_Start_Site	INS	-	-	GCCGCC			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr7:103629803_103629804insGCCGCC	ENST00000428762.1	-	0	159_160				RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000424685.2_Start_Codon_Ins	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCGCTCCATgccgccgccgc	0.723													10	48	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673495	6673496	+	RNA	INS	-	-	C	rs67140828		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:6673495_6673496insC	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTGCCTAGGGACCCCCGTCCCG	0.634											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13	---	---	---	---					
FGFR1	2260	broad.mit.edu	37	8	38285914	38285916	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:38285914_38285916delTCA	ENST00000341462.5	-	4	1346_1348	c.405_407delTGA	c.(403-408)gac>ga	p.DD135del	FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000447712.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	132					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.D133N(3)|p.D44N(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGAAGAGGAGtcatcatcatcat	0.498		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						7	133	---	---	---	---					
RP11-120I21.2	0	broad.mit.edu	37	8	85019395	85019398	+	RNA	DEL	ACAC	ACAC	-	rs35667379		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:85019395_85019398delACAC	ENST00000523678.1	+	0	279																											TTCCCATCAAacacacacacacac	0.441													4	4	---	---	---	---					
C8orf59	401466	broad.mit.edu	37	8	86129664	86129664	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:86129664delT	ENST00000417663.2	-	2	136	c.65delA	c.(64-66)acfs	p.N22fs	C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	AGCCTTAAAGTTTTTTTGGCT	0.343													9	891	---	---	---	---					
AGO2	27161	broad.mit.edu	37	8	141554345	141554345	+	Frame_Shift_Del	DEL	G	G	-	rs148575703	byFrequency	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr8:141554345delG	ENST00000220592.5	-	14	1918	c.1806delC	c.(1804-1806)ccfs	p.P602fs	AGO2_ENST00000519980.1_Frame_Shift_Del_p.P602fs	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CATCCCCGGCGGGGGGGTGAG	0.647													8	998	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135946954	135946955	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr9:135946954_135946955insC	ENST00000372080.4	+	11	2090_2091	c.2074_2075insC	c.(2074-2076)cccfs	p.P692fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.P623fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	689	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	p.A692P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGCGCCCCCCCCGTG	0.842													4	8	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24822125	24822127	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:24822125_24822127delGAA	ENST00000376451.2	+	11	2682_2684	c.2422_2424delGAA	c.(2422-2424)del	p.E812del	KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del			Q5T5P2	SKT_HUMAN	KIAA1217	1129					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGATGAGGAGGAAGAAGAAGAAG	0.552													8	293	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													7	794	---	---	---	---					
AP000442.1	0	broad.mit.edu	37	11	59396046	59396049	+	RNA	DEL	CCTT	CCTT	-	rs10459030		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr11:59396046_59396049delCCTT	ENST00000531311.1	+	0	59				AP000442.1_ENST00000531108.1_RNA																							tgcctgcctgccttccttccttcc	0.598													4	7	---	---	---	---					
SUGT1P3	0	broad.mit.edu	37	13	41488419	41488420	+	RNA	INS	-	-	A	rs34364962	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr13:41488419_41488420insA	ENST00000304932.4	-	0	214					NR_003365.2																						CCCTTCCTCCCAAAAGTAGACA	0.450													3	3	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCG	rs61991619		TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr14:77493647_77493648insGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGC	c.(487-489)ggc>gCGCgc	p.163_163G>AR		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.					nucleus		p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748													9	57	---	---	---	---					
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2055)tttfs	p.F685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361													7	451	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	5313074	5313076	+	RNA	DEL	GGT	GGT	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:5313074_5313076delGGT	ENST00000569895.1	+	0	304																											GCAGggtgacggtggtggtggtg	0.483													7	140	---	---	---	---					
RP11-586K12.11	0	broad.mit.edu	37	16	32663461	32663462	+	RNA	DEL	AC	AC	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr16:32663461_32663462delAC	ENST00000565347.1	+	0	164																											ATTATTTTATacacacacacac	0.416													3	4	---	---	---	---					
KRT12	3859	broad.mit.edu	37	17	39022893	39022894	+	Frame_Shift_Ins	INS	-	-	AGTG			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr17:39022893_39022894insAGTG	ENST00000251643.4	-	1	568_569	c.545_546insCACT	c.(544-546)catfs	p.H182fs		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	182	Linker 1.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GGTCTTCAATCAGTGGATAATA	0.371													25	853	---	---	---	---					
CCDC178	374864	broad.mit.edu	37	18	30913143	30913143	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr18:30913143delT	ENST00000383096.3	-	10	1056	c.874delA	c.(874-876)tgfs	p.M292fs	CCDC178_ENST00000402325.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000406524.2_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000583930.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000403303.1_Frame_Shift_Del_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Del_p.M292fs					coiled-coil domain containing 178									p.M292fs*3(2)									TTTACCTCCATTTTTTTTTTA	0.318													8	283	---	---	---	---					
CTC-548K16.2	0	broad.mit.edu	37	19	14473563	14473564	+	RNA	DEL	GG	GG	-	rs145512114	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:14473563_14473564delGG	ENST00000586698.1	-	0	119																											aagaaagagagggaaggaagga	0.431													2	4	---	---	---	---					
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:44174235_44174237delAGC	ENST00000221264.4	-	1	462_464	c.36_38delGCT	c.(34-39)ctc>ct	p.LL12del	PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.660													7	546	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													6	13	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chr21:10944697delA	ENST00000298232.7	-	10	850	c.483delT	c.(481-483)ttfs	p.F161fs	TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													13	1236	---	---	---	---					
FAM155B	27112	broad.mit.edu	37	X	68725671	68725672	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FZ-5926-01A-11D-1609-08	TCGA-FZ-5926-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678f111c-8182-487b-bc63-cc2f7521fb3c	9ae69267-3357-4cdc-8308-413098f2a731	g.chrX:68725671_68725672insA	ENST00000252338.4	+	1	588_589	c.546_547insA	c.(544-549)gcaaaafs	p.AK182fs		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	182						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCTCCGCCAAAAAAAACTT	0.589													8	342	---	---	---	---