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
TAF1L	138474	broad.mit.edu	37	9	32635310	32635310	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:32635310C>T	ENST00000242310.4	-	1	357	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	90					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGCACCGCCAGTCCCAGTC	0.488000													67	139					0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			21	19					0	0	0.001523	0	0
AFF4	27125	broad.mit.edu	37	5	132232472	132232472	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:132232472G>C	ENST00000265343.5	-	11	2229	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C	AFF4_ENST00000378595.3_Missense_Mutation_p.S617C	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	617					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAAGACTTAGACTCCTTCTT	0.433000													36	26					0	0	0.002836	0	0
SFRP4	6424	broad.mit.edu	37	7	37955724	37955724	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:37955724G>T	ENST00000436072.2	-	1	793	c.416C>A	c.(415-417)cCt>cAt	p.P139H	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	139	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GATGGCTTCAGGCGAGATGCA	0.652000													71	59					1.7488e-33	2.30449e-33	0.003610	1	0
NEDD9	4739	broad.mit.edu	37	6	11191251	11191251	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:11191251G>T	ENST00000379446.5	-	5	1017	c.851C>A	c.(850-852)cCa>cAa	p.P284Q	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.P284Q	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	284					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TGCAGCTCCTGGAATGTCACA	0.577000													12	51					4.3838e-07	5.28304e-07	0.001855	1	0
SLC22A11	55867	broad.mit.edu	37	11	64337279	64337279	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:64337279C>T	ENST00000301891.4	+	9	1912	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	SLC22A11_ENST00000377585.3_Missense_Mutation_p.P405L|SLC22A11_ENST00000377581.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	513					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTCTTCCTCCCGGAGACCCAG	0.627000													32	89					0	0	0.002096	0	0
GPR75	10936	broad.mit.edu	37	2	54081573	54081573	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54081573G>A	ENST00000394705.2	-	2	591	c.321C>T	c.(319-321)ttC>ttT	p.F107F	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	107	Phe-rich.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGCTGAGCTGAAGAATAACA	0.468000													4	72					0	0	0.000248	0	0
ABCA4	24	broad.mit.edu	37	1	94543340	94543340	+	Missense_Mutation	SNP	C	C	T	rs145614671		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:94543340C>T	ENST00000370225.3	-	11	1546	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R487Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	487					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R487L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGGCTTTCCCGAGGGCCCTT	0.502000													55	122					0	0	0.003610	0	0
ZNF44	51710	broad.mit.edu	37	19	12358500	12358500	+	Silent	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:12358500A>G	ENST00000426973.1	-	4	1214	c.1215T>C	c.(1213-1215)tgT>tgC	p.C405C				P15621	ZNF44_HUMAN	zinc finger protein 44	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CACATTCCTTACATTTGTAGG	0.373000													2	7					0	0	0.004672	0	0
ITGB1	3688	broad.mit.edu	37	10	33217097	33217097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:33217097C>T	ENST00000396033.2	-	5	607	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ITGB1_ENST00000302278.3_Missense_Mutation_p.D158N|ITGB1_ENST00000374956.4_Missense_Mutation_p.D158N|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_Missense_Mutation_p.D158N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	158	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTCTCCAAATCGTCTTTCATT	0.393000													18	61					0	0	0.004990	0	0
NHP2	55651	broad.mit.edu	37	5	177577981	177577981	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:177577981C>A	ENST00000274606.3	-	3	393	c.244G>T	c.(244-246)Gca>Tca	p.A82S	NHP2_ENST00000314397.4_Intron	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	82					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						GTGTCTCCTGCCAAAACCATG	0.483000													16	137					2.32078e-09	2.89585e-09	0.003163	1	0
DOCK3	1795	broad.mit.edu	37	3	51349911	51349911	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:51349911G>T	ENST00000266037.9	+	30	3121	c.3098G>T	c.(3097-3099)tGg>tTg	p.W1033L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1033						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCTAGGTGTGGAATTCTTAC	0.373000													3	38					0.004672	0.00544423	0.004672	1	0
NAALADL2	254827	broad.mit.edu	37	3	174974310	174974310	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr3:174974310G>A	ENST00000454872.1	+	4	1058	c.930G>A	c.(928-930)ctG>ctA	p.L310L	NAALADL2-AS2_ENST00000424690.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	310					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AATTGCCACTGCTTTATAAGG	0.358000													4	40					0	0	0.001168	0	0
C2orf16	84226	broad.mit.edu	37	2	27800115	27800115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:27800115G>T	ENST00000408964.2	+	1	727	c.676G>T	c.(676-678)Gag>Tag	p.E226*		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	226										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATTAACTCCAGAGAAAAGCTA	0.448000													22	48					6.33239e-15	8.11697e-15	0.001523	1	0
GPR39	2863	broad.mit.edu	37	2	133174856	133174856	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:133174856T>C	ENST00000329321.3	+	1	710	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	81						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCGGACATCTTGGTGTTCCT	0.547000													3	113					0	0	0.004672	0	0
PRKD3	23683	broad.mit.edu	37	2	37543567	37543567	+	Missense_Mutation	SNP	G	G	A	rs114047527		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:37543567G>A	ENST00000379066.1	-	2	863	c.101C>T	c.(100-102)aCg>aTg	p.T34M	PRKD3_ENST00000234179.2_Missense_Mutation_p.T34M			O94806	KPCD3_HUMAN	protein kinase D3	34					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.T34M(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGAGAGTCCCGTCTTAGGACT	0.493000													26	56					0	0	0.003330	0	0
VPS13B	157680	broad.mit.edu	37	8	100147902	100147902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:100147902C>T	ENST00000395996.1	+	11	1615	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R502*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.R502*|VPS13B_ENST00000358544.2_Nonsense_Mutation_p.R502*			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	502					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTTGATTACCGAAGCCCAGA	0.338000													16	37					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179596116	179596116	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179596116C>T	ENST00000589042.1	-	59	17601	c.17377G>A	c.(17377-17379)Gaa>Aaa	p.E5793K	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E5476K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4549K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5476	Ig-like 39.						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)			TGCTTGACTTCAATGCCACTG	0.403000													9	175					0	0	0.006214	0	0
STK31	56164	broad.mit.edu	37	7	23825153	23825153	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:23825153C>T	ENST00000354639.3	+	18	2600	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P	STK31_ENST00000433467.2_Silent_p.P735P|STK31_ENST00000428484.1_Silent_p.P712P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.P735P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	735	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGCTGAGCCCATGAAGGAAC	0.423000													33	140					0	0	0.002836	0	0
CTNNBL1	56259	broad.mit.edu	37	20	36407685	36407685	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:36407685C>T	ENST00000405275.2	+	11	1141	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R140C|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R327C|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R75C			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	327					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TAGTTCCAATCGTGAGCGCTT	0.483000													6	94					0	0	0.001984	0	0
NOM1	64434	broad.mit.edu	37	7	156762310	156762310	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:156762310C>T	ENST00000275820.3	+	11	2511	c.2496C>T	c.(2494-2496)caC>caT	p.H832H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	832					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CACAGGCCCACAGAAGCGCCG	0.507000													33	94					0	0	0.003271	0	0
MARC2	54996	broad.mit.edu	37	1	220955133	220955133	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:220955133G>A	ENST00000366913.3	+	7	1096	c.898G>A	c.(898-900)Gat>Aat	p.D300N	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	300	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCGCCTGTGTGATCCTTCTGA	0.393000													18	88					0	0	0.004990	0	0
KDM5A	5927	broad.mit.edu	37	12	475139	475139	+	Silent	SNP	G	G	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:475139G>C	ENST00000399788.2	-	4	860	c.498C>G	c.(496-498)ctC>ctG	p.L166L	KDM5A_ENST00000382815.4_Silent_p.L166L	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	166	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L166L(4)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CATATGGGTAGAGAATTCTTT	0.393000			T	NUP98	AML								8	224					0	0	0.003080	0	0
ALOX15B	247	broad.mit.edu	37	17	7951079	7951079	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:7951079G>A	ENST00000380183.4	+	13	1836	c.1697G>A	c.(1696-1698)tGg>tAg	p.W566*	ALOX15B_ENST00000380173.2_Nonsense_Mutation_p.W537*|ALOX15B_ENST00000572022.1_Nonsense_Mutation_p.W554*|ALOX15B_ENST00000573359.1_Nonsense_Mutation_p.W492*	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	566	Lipoxygenase.				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						TCCTGTGCTTGGATGCCCAAC	0.632000													17	56					0	0	0.008871	0	0
WIPF1	7456	broad.mit.edu	37	2	175446145	175446145	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:175446145A>C	ENST00000392547.2	-	3	173	c.74T>G	c.(73-75)tTg>tGg	p.L25W	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.L25W|WIPF1_ENST00000392546.2_Missense_Mutation_p.L25W|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.L25W|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.L25W|WIPF1_ENST00000409415.3_Missense_Mutation_p.L25W|WIPF1_ENST00000272746.5_Missense_Mutation_p.L25W	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	25					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGTCTTATTCAAGGTAGGCTT	0.443000													45	156					0	0	0.002222	0	0
HERC1	8925	broad.mit.edu	37	15	63958585	63958585	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:63958585G>A	ENST00000443617.2	-	41	8380	c.8293C>T	c.(8293-8295)Cgg>Tgg	p.R2765W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2765					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCAATCTGCCGAAGAGAGAAC	0.428000													23	75					0	0	0.005443	0	0
TERF1	7013	broad.mit.edu	37	8	73921257	73921257	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:73921257G>A	ENST00000276602.6	+	1	159	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TERF1_ENST00000276603.5_Missense_Mutation_p.E46K	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	46	Asp/Glu-rich (acidic).				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGAACTGCTCGAGTGCCAGGT	0.672000													4	49					0	0	0.001168	0	0
SLC5A8	160728	broad.mit.edu	37	12	101551086	101551086	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:101551086T>C	ENST00000536262.2	-	15	2362	c.1804A>G	c.(1804-1806)Agt>Ggt	p.S602G		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	602					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTTGCCACTCTGATCTGAG	0.368000													4	37					0	0	0.000248	0	0
ACSS1	84532	broad.mit.edu	37	20	24994664	24994664	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:24994664G>A	ENST00000537502.1	-	7	2667	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	ACSS1_ENST00000432802.2_Missense_Mutation_p.A462V|ACSS1_ENST00000323482.4_Missense_Mutation_p.A462V|ACSS1_ENST00000542618.1_Missense_Mutation_p.A341V			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	462					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAGGATTTCCGCCCCTTCTTC	0.587000													8	18					0	0	0.003080	0	0
CUX2	23316	broad.mit.edu	37	12	111785858	111785858	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:111785858C>T	ENST00000261726.6	+	22	4344	c.4190C>T	c.(4189-4191)tCg>tTg	p.S1397L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1397	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCACTGAACTCGCCCTCGGCC	0.637000													30	55					0	0	0.007291	0	0
ZNF362	149076	broad.mit.edu	37	1	33745945	33745945	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:33745945C>T	ENST00000539719.1	+	5	740	c.570C>T	c.(568-570)tcC>tcT	p.S190S	ZNF362_ENST00000373428.5_Silent_p.S190S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCCCAAGTCCGAACGCGGCC	0.657000													18	52					0	0	0.004990	0	0
NEXN	91624	broad.mit.edu	37	1	78392266	78392266	+	Silent	SNP	C	C	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:78392266C>G	ENST00000330010.8	+	6	762	c.465C>G	c.(463-465)ctC>ctG	p.L155L	NEXN_ENST00000457030.1_Silent_p.L205L|NEXN_ENST00000334785.7_Silent_p.L219L	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	219	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GACCATCTCTCAAGGAAGCAA	0.313000													22	61					0	0	0.002299	0	0
COL3A1	1281	broad.mit.edu	37	2	189857641	189857641	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:189857641G>T	ENST00000304636.3	+	15	1195	c.1025G>T	c.(1024-1026)gGa>gTa	p.G342V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G342V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	342	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAACTGCCGGATTCCCTGGA	0.393000													37	37					8.16277e-20	1.05592e-19	0.006999	1	0
CELSR1	9620	broad.mit.edu	37	22	46776786	46776786	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:46776786C>T	ENST00000262738.3	-	22	7154	c.7155G>A	c.(7153-7155)ccG>ccA	p.P2385P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2385					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTCGGGAGCGGAGCCCCCT	0.627000													17	38					0	0	0.004007	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625031	108625031	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:108625031G>T	ENST00000264047.2	+	8	1282	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G336C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G231C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	336					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTCTTTCTTTGGTCTTGGTGC	0.443000													18	25					2.94398e-08	3.64124e-08	0.007413	1	0
CDH24	64403	broad.mit.edu	37	14	23517613	23517613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:23517613C>T	ENST00000397359.3	-	13	2295	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	CDH24_ENST00000267383.5_Missense_Mutation_p.R679Q|CDH24_ENST00000487137.2_Missense_Mutation_p.R641Q|CDH24_ENST00000554034.1_Missense_Mutation_p.R641Q|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	679					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GATGTTCTCTCGGACGTCCTC	0.682000													8	201					0	0	0.004482	0	0
PRPF38B	55119	broad.mit.edu	37	1	109242023	109242023	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:109242023G>A	ENST00000370021.1	+	7	1326	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	PRPF38B_ENST00000370025.4_Missense_Mutation_p.R341Q			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	341					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		AGTCGCAGTCGAAGTCGTGAT	0.488000													22	42					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179400029	179400029	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:179400029G>T	ENST00000589042.1	-	358	101537	c.101313C>A	c.(101311-101313)agC>agA	p.S33771R	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24898R|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32130R|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24831R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24706R|TTN_ENST00000342992.6_Missense_Mutation_p.S31203R|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32130							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)			CTGAAGGCTTGCTCAGACCAA	0.423000													42	66					6.45866e-13	8.20424e-13	0.008740	1	0
MMP25	64386	broad.mit.edu	37	16	3100422	3100422	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:3100422A>G	ENST00000336577.4	+	4	773	c.536A>G	c.(535-537)cAc>cGc	p.H179R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	179					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGCGCCTTCCACCAGGACAGC	0.632000													23	60					0	0	0.002780	0	0
NPR2	4882	broad.mit.edu	37	9	35799694	35799694	+	Missense_Mutation	SNP	G	G	A	rs144940095		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:35799694G>A	ENST00000342694.2	+	3	1208	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	318					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAAGAGCCCGGGAAGACTTT	0.527000													10	87					0	0	0.006214	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692607	23692607	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:23692607C>T	ENST00000397312.2	-	7	1302	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	ELAVL2_ENST00000223951.6_Missense_Mutation_p.G330E|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G343E|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G343E|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G373E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	343	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACTCTGTCTCCCAGACGGTA	0.408000													18	25					0	0	0.004990	0	0
AXIN1	8312	broad.mit.edu	37	16	396963	396963	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:396963G>A	ENST00000262320.3	-	2	434	c.63C>T	c.(61-63)ccC>ccT	p.P21P	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Silent_p.P21P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	21					activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTGGGGGTCGGGGAGCATCTT	0.572000													25	55					0	0	0.003954	0	0
KDM4B	23030	broad.mit.edu	37	19	5151410	5151410	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:5151410G>A	ENST00000159111.4	+	23	3397	c.3179G>A	c.(3178-3180)cGc>cAc	p.R1060H	KDM4B_ENST00000536461.1_Missense_Mutation_p.R1094H	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	1060					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCGCCAAGCGCCCGCGTGTG	0.721000													4	5					0	0	0.000602	0	0
ZNF212	7988	broad.mit.edu	37	7	148947811	148947811	+	Missense_Mutation	SNP	G	G	A	rs145118937	by1000genomes	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:148947811G>A	ENST00000335870.2	+	3	582	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	152	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CTGTTTCACCGAGCAGGAATG	0.498000													58	75					0	0	0.003610	0	0
NRF1	4899	broad.mit.edu	37	7	129297406	129297406	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:129297406C>T	ENST00000393232.1	+	2	332	c.215C>T	c.(214-216)gCa>gTa	p.A72V	NRF1_ENST00000223190.4_Missense_Mutation_p.A72V|NRF1_ENST00000393231.3_Missense_Mutation_p.A72V|NRF1_ENST00000539636.1_5'UTR|NRF1_ENST00000353868.4_Missense_Mutation_p.A72V|NRF1_ENST00000393230.2_Missense_Mutation_p.A72V|NRF1_ENST00000311967.2_Missense_Mutation_p.A72V	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	72	Dimerization.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GCTCATCTGGCAGCTGCAGGT	0.463000													14	33					0	0	0.001855	0	0
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:108117798C>T	ENST00000278616.4	+	8	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000452508.2_Missense_Mutation_p.R337C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	5					0	0	0.006122	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													4	50					0	0	0.000248	0	0
TBL3	10607	broad.mit.edu	37	16	2024602	2024602	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:2024602A>C	ENST00000568546.1	+	5	429	c.301A>C	c.(301-303)Acc>Ccc	p.T101P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	101					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GGGCAGCGTTACCCGCCTGTG	0.662000													7	36					0	0	0.008291	0	0
KRT36	8689	broad.mit.edu	37	17	39643859	39643859	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:39643859C>T	ENST00000393986.2	-	5	892	c.680G>A	c.(679-681)cGc>cAc	p.R227H	KRT36_ENST00000328119.6_Missense_Mutation_p.R277H			O76013	KRT36_HUMAN	keratin 36	277	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CACATCTCTGCGGTTATTCTC	0.592000													31	85					0	0	0.001786	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877873	76877873	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:76877873A>G	ENST00000328299.3	+	3	542	c.394A>G	c.(394-396)Agc>Ggc	p.S132G	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	132					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GTCCCATACCAGCGTTCCTCT	0.428000													23	69					0	0	0.003954	0	0
LOC150776	150776	broad.mit.edu	37	2	132276229	132276229	+	RNA	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:132276229A>T	ENST00000438378.2	+	0	1890					NR_026922.1																						TACAGCCTGGAGGGCCAGGAC	0.642000													5	10					0	0	0.001168	0	0
LEP	3952	broad.mit.edu	37	7	127894691	127894691	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:127894691A>G	ENST00000308868.4	+	3	430	c.379A>G	c.(379-381)Acc>Gcc	p.T127A		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	127					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						TGGCCTGGAGACCTTGGACAG	0.607000													11	36					0	0	0.001368	0	0
CMTM4	146223	broad.mit.edu	37	16	66651242	66651242	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:66651242C>A	ENST00000330687.4	-	5	824	c.643G>T	c.(643-645)Gta>Tta	p.V215L		NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	215					chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		CTTACTGTTACGTTTGTGGAG	0.363000													12	21					9.31168e-06	1.11267e-05	0.001855	1	0
PLCB1	23236	broad.mit.edu	37	20	8755221	8755221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:8755221C>T	ENST00000378641.3	+	27	3441	c.2966C>T	c.(2965-2967)aCg>aTg	p.T989M	PLCB1_ENST00000378637.2_Missense_Mutation_p.T989M|PLCB1_ENST00000338037.6_Missense_Mutation_p.T989M|PLCB1_ENST00000494924.1_3'UTR	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	989					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.T989M(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTTCATCAACGATTGAGCAA	0.463000													42	89					0	0	0.008740	0	0
TNN	63923	broad.mit.edu	37	1	175048747	175048747	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:175048747G>A	ENST00000239462.4	+	3	801	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	230	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGACTGCAGCGAGAAGCGCTG	0.677000													6	4					0	0	0.001984	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180950	43180950	+	Missense_Mutation	SNP	C	C	T	rs150392469		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:43180950C>T	ENST00000398795.2	+	5	999	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	TNFSF11_ENST00000405262.2_Missense_Mutation_p.R211W|TNFSF11_ENST00000239849.6_Missense_Mutation_p.R284W|TNFSF11_ENST00000358545.2_Missense_Mutation_p.R211W|TNFSF11_ENST00000544862.1_Missense_Mutation_p.R211W	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	284					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TTTTAAGTTACGGTCTGGAGA	0.423000													19	82					0	0	0.007413	0	0
PKN3	29941	broad.mit.edu	37	9	131476379	131476379	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131476379C>T	ENST00000291906.4	+	10	1684	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	431					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCAGGAACGCATCTTCTC	0.627000													28	99					0	0	0.006320	0	0
DDR1	780	broad.mit.edu	37	6	30856982	30856982	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:30856982G>A	ENST00000324771.8	+	6	740	c.192G>A	c.(190-192)ttG>ttA	p.L64L	DDR1_ENST00000454612.2_Silent_p.L64L|DDR1_ENST00000376569.3_Silent_p.L64L|DDR1_ENST00000376575.3_Silent_p.L64L|DDR1_ENST00000446312.1_Silent_p.L64L|DDR1_ENST00000376570.4_Silent_p.L64L|DDR1_ENST00000513240.1_Silent_p.L64L|DDR1_ENST00000418800.2_Silent_p.L64L|DDR1_ENST00000376567.2_Silent_p.L64L|DDR1_ENST00000376568.3_Silent_p.L64L|DDR1_ENST00000508312.1_Silent_p.L82L|DDR1_ENST00000452441.1_Silent_p.L64L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	64	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCTCAGGTTGGAGAGCAGTG	0.602000													65	137					0	0	0.003610	0	0
OBSL1	23363	broad.mit.edu	37	2	220422982	220422982	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:220422982G>A	ENST00000404537.1	-	10	3482	c.3426C>T	c.(3424-3426)caC>caT	p.H1142H	OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000603926.1_Silent_p.H1142H|OBSL1_ENST00000265317.5_Silent_p.H133H|OBSL1_ENST00000373876.1_Silent_p.H1142H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1142	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGCTGGGCGTGGGGCAGGG	0.667000													11	7					0	0	0.001368	0	0
XIRP2	129446	broad.mit.edu	37	2	168107151	168107151	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:168107151A>T	ENST00000409195.1	+	9	9338	c.9249A>T	c.(9247-9249)caA>caT	p.Q3083H	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q3083H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2861H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2908					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACAGCACCAAGTAGCAGCTC	0.353000													23	29					0	0	0.001882	0	0
KCNH2	3757	broad.mit.edu	37	7	150649889	150649889	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:150649889C>T	ENST00000392968.2	-	4	2013	c.893G>A	c.(892-894)cGc>cAc	p.R298H	KCNH2_ENST00000262186.5_Missense_Mutation_p.R394H|KCNH2_ENST00000430723.3_Missense_Mutation_p.R394H|KCNH2_ENST00000330883.4_Missense_Mutation_p.R54H			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	394	Poly-Pro.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCGGTGGATGCGCGGTGCCTG	0.647000													7	82					0	0	0.001984	0	0
LRRC8A	56262	broad.mit.edu	37	9	131678559	131678559	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131678559G>A	ENST00000259324.5	+	4	2865	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.R781H|LRRC8A_ENST00000372600.4_Missense_Mutation_p.R781H	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	781					pre-B cell differentiation	integral to membrane		p.R781H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTGCTCAAGCGCAGCGGCTTG	0.672000													20	38					0	0	0.008871	0	0
SMAD9	4093	broad.mit.edu	37	13	37439827	37439827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:37439827G>A	ENST00000379826.4	-	5	1192	c.850C>T	c.(850-852)Cga>Tga	p.R284*	SMAD9_ENST00000399275.2_Nonsense_Mutation_p.R284*|SMAD9_ENST00000350148.5_Nonsense_Mutation_p.R247*	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	284	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCCCCAACTCGGTTGTTCAGT	0.498000													11	32					0	0	0.000978	0	0
ZNF812	729648	broad.mit.edu	37	19	9801493	9801493	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:9801493G>T	ENST00000457674.2	-	5	1204	c.686C>A	c.(685-687)tCc>tAc	p.S229Y	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTAGTGAAGGATTTCCCATG	0.363000													14	14					4.3838e-07	5.28304e-07	0.001855	1	0
MUC16	94025	broad.mit.edu	37	19	9048094	9048094	+	Silent	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:9048094G>T	ENST00000397910.4	-	5	33740	c.33537C>A	c.(33535-33537)acC>acA	p.T11179T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAAGTTGTGGTCTCTGGTT	0.463000													9	34					0.000274275	0.000322273	0.004482	1	0
CHD7	55636	broad.mit.edu	37	8	61707620	61707620	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:61707620T>A	ENST00000423902.2	+	4	2651	c.2172T>A	c.(2170-2172)aaT>aaA	p.N724K	CHD7_ENST00000525508.1_Missense_Mutation_p.N724K|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	724					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTTCTGAAAATTCAGACTTAG	0.418000													40	89					0	0	0.007835	0	0
TSPAN15	23555	broad.mit.edu	37	10	71258083	71258083	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:71258083G>A	ENST00000373290.2	+	5	623	c.501G>A	c.(499-501)caG>caA	p.Q167Q	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	167						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GCAAGAATCAGTACCACGACT	0.627000													18	27					0	0	0.004990	0	0
SPTBN1	6711	broad.mit.edu	37	2	54753667	54753667	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:54753667C>T	ENST00000356805.4	+	2	393	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	38	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGCTCTGCGCGGCTTTTTGA	0.527000													13	64					0	0	0.001855	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818768	101818768	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:101818768G>A	ENST00000263468.8	+	4	671	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	134							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTAGTTTCCCGAAAACCAGTT	0.338000													11	15					0	0	0.000978	0	0
DNAH5	1767	broad.mit.edu	37	5	13919309	13919309	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:13919309C>T	ENST00000265104.4	-	7	1055	c.951G>A	c.(949-951)gcG>gcA	p.A317A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	317	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTGGCCGCCGCAAGCACTG	0.463000									Kartagener syndrome				42	104					0	0	0.007835	0	0
DCDC2	51473	broad.mit.edu	37	6	24302242	24302242	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:24302242C>T	ENST00000378454.3	-	3	680	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	127					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CGAGCTGACACGTTGATCCTG	0.353000													22	43					0	0	0.001523	0	0
CARD11	84433	broad.mit.edu	37	7	2954903	2954903	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:2954903T>C	ENST00000396946.4	-	21	3210	c.2807A>G	c.(2806-2808)gAc>gGc	p.D936G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	936					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTTGGTGGCGTCCAGCGAGGA	0.627000			Mis		DLBCL								3	171					0	0	0.004672	0	0
TIA1	7072	broad.mit.edu	37	2	70451687	70451687	+	Splice_Site	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:70451687C>T	ENST00000433529.2	-	7	683	c.474_splice	c.e7+1	p.W158_splice	TIA1_ENST00000416149.2_Splice_Site_p.W158_splice|TIA1_ENST00000445587.1_Splice_Site_p.W147_splice|TIA1_ENST00000482876.1_5'UTR|TIA1_ENST00000282574.4_Splice_Site_p.W158_splice|TIA1_ENST00000415783.2_Splice_Site_p.W147_splice|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	158	RRM 2.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGAGCTCACCCATTTGTTGAA	0.368000													14	41					0	0	0.002450	0	0
TMCC3	57458	broad.mit.edu	37	12	94965489	94965489	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:94965489G>A	ENST00000261226.4	-	4	1287	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	TMCC3_ENST00000551457.1_Missense_Mutation_p.R355C	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	386						integral to membrane		p.R386G(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TTAGAAATGCGAGTCTGGCAG	0.547000													30	62					0	0	0.006320	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													5	49					0	0	0.000602	0	0
DLL4	54567	broad.mit.edu	37	15	41228839	41228839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:41228839G>A	ENST00000249749.5	+	9	1930	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	552					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCAGTGGCTGTGCGGCAGCT	0.667000													12	23					0	0	0.000978	0	0
SUDS3	64426	broad.mit.edu	37	12	118829084	118829084	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:118829084G>A	ENST00000543473.1	+	6	826	c.514G>A	c.(514-516)Gga>Aga	p.G172R	SUDS3_ENST00000397564.2_Missense_Mutation_p.G173R	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	172					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAACTGACTGGAGGTAGGAA	0.463000													16	110					0	0	0.006122	0	0
ZNF670	93474	broad.mit.edu	37	1	247201303	247201303	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:247201303G>A	ENST00000366503.2	-	4	776	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTGAATAATTGAAGGCTTTAT	0.343000													5	40					0	0	0.000602	0	0
LPPR2	64748	broad.mit.edu	37	19	11470367	11470367	+	Missense_Mutation	SNP	G	G	A	rs142818555		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:11470367G>A	ENST00000251473.5	+	4	602	c.226G>A	c.(226-228)Gca>Aca	p.A76T	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.A51T|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TCTTGTCTACGCACTGGTCAC	0.637000													10	38					0	0	0.008291	0	0
PASD1	139135	broad.mit.edu	37	X	150832808	150832808	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chrX:150832808C>T	ENST00000370357.4	+	11	1304	c.1059C>T	c.(1057-1059)ggC>ggT	p.G353G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	353						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCTGCTGGCGCAAGTGCTC	0.552000													12	23					0	0	0.001368	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849078	94849078	+	Missense_Mutation	SNP	G	G	A	rs142942004		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr14:94849078G>A	ENST00000448921.1	-	4	1069	c.497C>T	c.(496-498)gCc>gTc	p.A166V	SERPINA1_ENST00000404814.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000437397.1_Missense_Mutation_p.A166V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.A166V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.A166V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.A166V|SERPINA1_ENST00000449399.3_Missense_Mutation_p.A166V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.A166V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	166					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	p.A166V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GACAGTGAAGGCTTCTGAGTG	0.498000													80	99					0	0	0.003610	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405168	139405168	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:139405168A>T	ENST00000277541.6	-	17	2752	c.2677T>A	c.(2677-2679)Tgc>Agc	p.C893S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	893	EGF-like 23; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGTGGCAGCGGTAGCCG	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			13	26					0	0	0.001855	0	0
CPS1	1373	broad.mit.edu	37	2	211471497	211471497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:211471497C>T	ENST00000233072.5	+	18	2220	c.2024C>T	c.(2023-2025)gCc>gTc	p.A675V	CPS1_ENST00000451903.2_Missense_Mutation_p.A224V|CPS1_ENST00000430249.2_Missense_Mutation_p.A681V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	675	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTCTCCAATGCCGAGTTTCAG	0.453000													19	20					0	0	0.001882	0	0
AOC4P	90586	broad.mit.edu	37	17	41019741	41019741	+	RNA	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:41019741C>T	ENST00000585538.1	+	0	580					NR_002773.1																						CCTCACCCCTCCTACATGCGG	0.632000													13	39					0	0	0.001855	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:140683343G>A	ENST00000239451.4	-	1	269	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	30					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.F30F(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597000													8	71					0	0	0.008291	0	0
PDILT	204474	broad.mit.edu	37	16	20371929	20371929	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:20371929C>T	ENST00000302451.4	-	11	1715	c.1467G>A	c.(1465-1467)ctG>ctA	p.L489L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	489					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTGGCTTTCCAGGAAGTCAG	0.468000													65	150					0	0	0.003610	0	0
PTPRF	5792	broad.mit.edu	37	1	44085423	44085423	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:44085423C>T	ENST00000359947.4	+	29	5345	c.5005C>T	c.(5005-5007)Cgg>Tgg	p.R1669W	PTPRF_ENST00000422171.2_Missense_Mutation_p.R1028W|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1660W|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1660W|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1669W	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1669	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTTCAAGAACCGGCTGGTGAA	0.582000													12	65					0	0	0.000978	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	96					0	0	0.001168	0	0
PHYHD1	254295	broad.mit.edu	37	9	131696086	131696086	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:131696086G>T	ENST00000372592.3	+	5	1151	c.218G>T	c.(217-219)aGt>aTt	p.S73I	PHYHD1_ENST00000353176.5_Missense_Mutation_p.S73I|PHYHD1_ENST00000421063.2_Missense_Mutation_p.S73I|PHYHD1_ENST00000308941.5_Missense_Mutation_p.S73I	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TTCTTGAGCAGTGGTGACAAG	0.552000											OREG0003917	type=REGULATORY REGION|Gene=AK130919|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	64	91					5.10652e-33	6.66685e-33	0.003610	1	0
IL22RA1	58985	broad.mit.edu	37	1	24460838	24460838	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr1:24460838C>T	ENST00000270800.1	-	4	432	c.394G>A	c.(394-396)Gtg>Atg	p.V132M		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	132						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATCGATCTCACTTTGGAGATA	0.507000													27	25					0	0	0.006320	0	0
HIP1R	9026	broad.mit.edu	37	12	123340573	123340573	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:123340573A>G	ENST00000253083.4	+	14	1300	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	392					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AATGCACTGGAGGGTGAGCTG	0.682000													6	6					0	0	0.001984	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													3	172					0	0	0.004672	0	0
MYO16	23026	broad.mit.edu	37	13	109661380	109661380	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:109661380T>C	ENST00000356711.2	+	22	2638	c.2512T>C	c.(2512-2514)Ttg>Ctg	p.L838L	MYO16_ENST00000357550.2_Silent_p.L838L|MYO16_ENST00000457511.2_Silent_p.L350L|MYO16_ENST00000251041.5_Silent_p.L838L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	838					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GAATGGAGTTTTGGACTTTTT	0.358000													21	54					0	0	0.008871	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													3	54					0	0	0.006214	0	0
SNHG14	104472715	broad.mit.edu	37	15	25420125	25420125	+	RNA	SNP	A	A	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr15:25420125A>C	ENST00000441592.2	+	0	179				SNORD115-3_ENST00000363100.1_RNA																							ATGACTTAAAAATCATGCTTA	0.493000													144	304					0	0	0.003610	0	0
MFAP3	4238	broad.mit.edu	37	5	153432559	153432559	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:153432559C>T	ENST00000436816.1	+	3	594	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MFAP3_ENST00000439768.2_5'UTR|MFAP3_ENST00000322602.5_Silent_p.F125F	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	125	Ig-like C2-type.					integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATACCTGTTTCGTCACCTCTC	0.438000													44	44					0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139890008	139890008	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:139890008G>A	ENST00000303045.6	-	3	1089	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	COL22A1_ENST00000435777.1_Missense_Mutation_p.R215C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	215					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAAAGACGGCGCCGCAGCTTG	0.662000										HNSCC(7;0.00092)			17	30					0	0	0.007413	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53720433	53720433	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr16:53720433C>T	ENST00000262135.4	-	6	781	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E230K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E230K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E230K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	230					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCAGGATCTCAGCCAAGTGC	0.378000													4	70					0	0	0.000248	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	7					0	0	0.001523	0	0
TOP3A	7156	broad.mit.edu	37	17	18198059	18198059	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:18198059G>A	ENST00000321105.5	-	10	1245	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	TOP3A_ENST00000542570.1_Missense_Mutation_p.A249V|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	344					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGTTTCTTTAGCATTTATTCT	0.423000													13	48					0	0	0.001855	0	0
DCAF15	90379	broad.mit.edu	37	19	14069867	14069867	+	Silent	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:14069867T>C	ENST00000254337.6	+	7	816	c.795T>C	c.(793-795)agT>agC	p.S265S		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	265										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGACAGGAGTTTCTGCCAAA	0.622000													50	68					0	0	0.003610	0	0
PLXNB2	23654	broad.mit.edu	37	22	50716420	50716420	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr22:50716420T>C	ENST00000449103.1	-	32	5050	c.4910A>G	c.(4909-4911)gAc>gGc	p.D1637G	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1637G			O15031	PLXB2_HUMAN	plexin B2	1637					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGAAGTTGTCCACAAACTG	0.657000													22	37					0	0	0.002299	0	0
EPHA1	2041	broad.mit.edu	37	7	143098584	143098584	+	Missense_Mutation	SNP	C	C	T	rs144146635		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:143098584C>T	ENST00000275815.3	-	3	351	c.265G>A	c.(265-267)Ggg>Agg	p.G89R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	89						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCCTCCTCCCCGCGGTAGATC	0.607000													82	112					0	0	0.003610	0	0
SORCS1	114815	broad.mit.edu	37	10	108389025	108389025	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr10:108389025C>T	ENST00000263054.6	-	19	2604	c.2597G>A	c.(2596-2598)cGt>cAt	p.R866H	SORCS1_ENST00000369698.1_Missense_Mutation_p.R401H|SORCS1_ENST00000344440.6_Missense_Mutation_p.R866H	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	866	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.R866H(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACGGTCACACGGAAAATGCC	0.473000													9	24					0	0	0.004482	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284919	15284919	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:15284919C>T	ENST00000263388.2	-	25	4771	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1566					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCGGGGTTCGGAGCCAGGA	0.692000													11	35					0	0	0.001368	0	0
ZNF831	128611	broad.mit.edu	37	20	57767141	57767141	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr20:57767141C>T	ENST00000371030.2	+	1	1067	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	356						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCGGAGCAGCCGCATGCGCCC	0.756000													23	16					0	0	0.003330	0	0
TRMT44	152992	broad.mit.edu	37	4	8456493	8456493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr4:8456493C>T	ENST00000389737.4	+	6	1156	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	TRMT44_ENST00000513449.2_Nonsense_Mutation_p.R145*|RP11-689P11.3_ENST00000515186.1_RNA	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		GATTGATGTCCGAAGAAGAAA	0.393000													29	68					0	0	0.007291	0	0
LY75	4065	broad.mit.edu	37	2	160690588	160690588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160690588G>A	ENST00000263636.4	-	27	3835	c.3808C>T	c.(3808-3810)Cag>Tag	p.Q1270*	LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.Q1270*|LY75_ENST00000554112.1_Nonsense_Mutation_p.Q1270*|LY75_ENST00000553424.1_Nonsense_Mutation_p.Q1270*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.Q1270*	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTCATCCTGTGTTGTTGCC	0.348000													16	32					0	0	0.003163	0	0
OOEP	441161	broad.mit.edu	37	6	74078519	74078519	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:74078519A>T	ENST00000370363.1	-	4	765	c.273T>A	c.(271-273)gaT>gaA	p.D91E	OOEP_ENST00000370359.5_Missense_Mutation_p.D146E			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	146	KH; atypical.					cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						AAGCAACAGGATCCTGGGGAG	0.423000													4	45					0	0	0.000602	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522454	124522454	+	Silent	SNP	C	C	T	rs140379738		TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr9:124522454C>T	ENST00000408936.3	+	6	1088	c.906C>T	c.(904-906)gcC>gcT	p.A302A	DAB2IP_ENST00000259371.2_Silent_p.A274A|DAB2IP_ENST00000309989.1_Silent_p.A178A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	302					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTCGGTGGCCGGGCGGCAGT	0.637000													9	75					0	0	0.006214	0	0
GALP	85569	broad.mit.edu	37	19	56693617	56693617	+	Silent	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr19:56693617C>T	ENST00000357330.2	+	4	295	c.213C>T	c.(211-213)gcC>gcT	p.A71A	GALP_ENST00000440823.1_3'UTR	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	71					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TGTGGAAGGCCATCGGTGAGT	0.587000													14	18					0	0	0.004007	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220126	79220126	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:79220126C>T	ENST00000374759.3	-	16	2973	c.2590G>A	c.(2590-2592)Gcc>Acc	p.A864T		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	864					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTTCCCTGGCGGGGTCTGGC	0.657000													21	61					0	0	0.008871	0	0
FRY	10129	broad.mit.edu	37	13	32805362	32805362	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:32805362C>A	ENST00000380250.3	+	41	5948	c.5452C>A	c.(5452-5454)Caa>Aaa	p.Q1818K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACCTAAAAATCAAAATTCAAA	0.333000													17	42					1.5739e-10	1.98142e-10	0.004007	1	0
SDC1	6382	broad.mit.edu	37	2	20405159	20405160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:20405159_20405160insG	ENST00000381150.1	-	3	482_483	c.92_93insC	c.(91-93)cgafs	p.R31fs	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000254351.4_Frame_Shift_Ins_p.R31fs|SDC1_ENST00000403076.1_Frame_Shift_Ins_p.R31fs	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	31					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTGATCTTCAGGGGGCAAATT	0.550													40	104	---	---	---	---					
LY75	4065	broad.mit.edu	37	2	160708798	160708799	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr2:160708798_160708799insT	ENST00000263636.4	-	21	2823_2824	c.2796_2797insA	c.(2794-2799)aaataafs	p.*933fs	LY75_ENST00000554112.1_Frame_Shift_Ins_p.*933fs|LY75-CD302_ENST00000505052.1_Frame_Shift_Ins_p.*933fs|LY75-CD302_ENST00000504764.1_Frame_Shift_Ins_p.*933fs|LY75_ENST00000553424.1_Frame_Shift_Ins_p.*933fs	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GAAACATTATATTTTTCACAGA	0.366													17	31	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36608588	36608591	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr5:36608588_36608591delAGTC	ENST00000265113.4	+	2	539_542	c.63_66delAGTC	c.(61-66)ggfs	p.GV21fs	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Frame_Shift_Del_p.GV21fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	21					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.G21G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TCCAGCAGGGAGTCCGTAAACGCA	0.446													48	100	---	---	---	---					
RAET1E	135250	broad.mit.edu	37	6	150209677	150209677	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr6:150209677delT	ENST00000357183.4	-	4	881	c.749delA	c.(748-750)atfs	p.N250fs	RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Frame_Shift_Del_p.N214fs	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	250					antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCACTCACCATTTTGCCACCA	0.507													40	60	---	---	---	---					
TYW1	55253	broad.mit.edu	37	7	66703464	66703465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr7:66703464_66703465insG	ENST00000359626.5	+	16	2311_2312	c.2147_2148insG	c.(2146-2148)agafs	p.R716fs		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	716					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTTGATCCCAAGGACACAAGAC	0.421													12	39	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92365190	92365191	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr8:92365190_92365191insA	ENST00000276609.3	+	11	1519_1520	c.1280_1281insA	c.(1279-1281)taafs	p.*427fs	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.*427fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.*427fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	427						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTCCGAGATTTAAAAAAATATT	0.327													46	94	---	---	---	---					
GALNT18	374378	broad.mit.edu	37	11	11394162	11394163	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr11:11394162_11394163insT	ENST00000227756.4	-	6	1402_1403	c.991_992insA	c.(991-993)tggfs	p.W331fs		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GAAGCAGCCAATGAGGGCAGGG	0.604													13	38	---	---	---	---					
OR6C74	254783	broad.mit.edu	37	12	55641374	55641375	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr12:55641374_55641375delCA	ENST00000343870.4	+	1	393_394	c.303_304delCA	c.(301-306)ttctfs	p.FT101fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AGCTGTTTTTCACTATTCTCTT	0.436													48	209	---	---	---	---					
PIBF1	10464	broad.mit.edu	37	13	73468075	73468076	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr13:73468075_73468076insA	ENST00000326291.6	+	11	1814_1815	c.1476_1477insA	c.(1474-1479)caaaaafs	p.QK492fs		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	492						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAAATATCAGAAAAAATTGGA	0.332													9	44	---	---	---	---					
CACNB1	782	broad.mit.edu	37	17	37331582	37331584	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CR-7380-01A-11D-2012-08	TCGA-CR-7380-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac968fdd-970b-41fc-99f7-5670c741bc06	37d0d99a-d9a4-472e-aa15-50dd1650e9d2	g.chr17:37331582_37331584delTCT	ENST00000394303.3	-	14	1866_1868	c.1659_1661delAGA	c.(1657-1662)gac>ga	p.ED553del	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	553					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TTCCTCATAGTCTTCTTCCTCGT	0.645											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	321	---	---	---	---