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
TJAP1	93643	broad.mit.edu	37	6	43471425	43471425	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:43471425G>A	ENST00000372444.2	+	10	963	c.530G>A	c.(529-531)cGa>cAa	p.R177Q	TJAP1_ENST00000372452.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000372445.5_Missense_Mutation_p.R187Q|TJAP1_ENST00000372449.1_Missense_Mutation_p.R187Q|TJAP1_ENST00000438588.2_Missense_Mutation_p.R187Q|TJAP1_ENST00000436109.2_Missense_Mutation_p.R177Q|TJAP1_ENST00000259751.1_Missense_Mutation_p.R177Q|TJAP1_ENST00000483640.1_3'UTR	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	187						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCACTTCCGAAACCACAAG	0.562000													8	36					0	0	0.047766	0	0
SERPINF1	5176	broad.mit.edu	37	17	1675210	1675210	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:1675210T>C	ENST00000254722.4	+	5	647	c.484T>C	c.(484-486)Tat>Cat	p.Y162H	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	162					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGAAAAGTCATATGGGACCAG	0.567000													7	33					0	0	0.029380	0	0
GUCY2D	3000	broad.mit.edu	37	17	7910382	7910382	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7910382G>A	ENST00000254854.4	+	5	1533	c.1383G>A	c.(1381-1383)ctG>ctA	p.L461L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	461					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CTTCAGGACTGGAGCCGGGCC	0.602000													14	59					0	0	0.160694	0	0
TMED8	283578	broad.mit.edu	37	14	77809654	77809654	+	Silent	SNP	C	C	A	rs147229178		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:77809654C>A	ENST00000216468.7	-	5	682	c.627G>T	c.(625-627)gcG>gcT	p.A209A		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	209	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTCATCGGTCGCAAACTCCC	0.522000													4	122					0.150653	0.168732	0.150653	1	0
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	312	DUF6 2.					integral to membrane		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567000													4	92					0	0	0.029380	0	0
ATP2A3	489	broad.mit.edu	37	17	3850835	3850835	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3850835G>A	ENST00000309890.7	-	8	1095	c.945C>T	c.(943-945)atC>atT	p.I315I	ATP2A3_ENST00000352011.3_Silent_p.I315I|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Silent_p.I315I|ATP2A3_ENST00000397035.3_Silent_p.I315I|ATP2A3_ENST00000359983.3_Silent_p.I315I|ATP2A3_ENST00000397043.3_Silent_p.I315I	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	315					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCATGTAGTGATGACAGCCG	0.682000													53	28					0	0	0.139131	0	0
GSAP	54103	broad.mit.edu	37	7	76984647	76984647	+	Silent	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:76984647C>A	ENST00000257626.7	-	16	1299	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		ACTGGCTGAGCAGTGCTCTAT	0.473000													21	70					3.10358e-05	3.86223e-05	0.069288	1	0
NOL9	79707	broad.mit.edu	37	1	6609659	6609659	+	Missense_Mutation	SNP	G	G	A	rs144983671	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:6609659G>A	ENST00000377705.5	-	3	748	c.716C>T	c.(715-717)cCg>cTg	p.P239L		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	239					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGAACCCGGATAGCTGGT	0.408000													3	58					0	0	0.150653	0	0
SATB2	23314	broad.mit.edu	37	2	200298060	200298060	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:200298060C>A	ENST00000417098.1	-	3	1163		c.e3+1		SATB2_ENST00000428695.1_Splice_Site|SATB2_ENST00000457245.1_Splice_Site|SATB2_ENST00000260926.5_Splice_Site|SATB2_ENST00000443023.1_Intron	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCATTAATACCTTGGGCCTG	0.498000													12	27					0.00136819	0.00166563	0.093190	1	0
DVL2	1856	broad.mit.edu	37	17	7132326	7132326	+	Silent	SNP	G	G	A	rs141544993		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7132326G>A	ENST00000005340.5	-	9	1278	c.996C>T	c.(994-996)gaC>gaT	p.D332D	DVL2_ENST00000575458.1_Silent_p.D326D	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	332	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCCGCACAGCGTCATCGTTGC	0.547000													46	21					0	0	0.139131	0	0
CCDC38	120935	broad.mit.edu	37	12	96288808	96288808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:96288808G>T	ENST00000344280.3	-	8	1288	c.731C>A	c.(730-732)tCa>tAa	p.S244*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	244										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTACTTTTTGATGCCTGTGC	0.343000													46	82					1.61004e-24	2.19908e-24	0.139131	1	0
DOCK7	85440	broad.mit.edu	37	1	63027310	63027310	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:63027310G>A	ENST00000251157.5	-	19	2210	c.2177C>T	c.(2176-2178)gCt>gTt	p.A726V	DOCK7_ENST00000340370.5_Missense_Mutation_p.A726V	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	726	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGACGAAACAGCAACAACTTC	0.289000													3	56					0	0	0.115264	0	0
OR4K15	81127	broad.mit.edu	37	14	20444186	20444186	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:20444186T>C	ENST00000305051.5	+	1	584	c.509T>C	c.(508-510)cTc>cCc	p.L170P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGCTCGTCCTCATTTCATGG	0.448000													3	93					0	0	0.115264	0	0
FNDC1	84624	broad.mit.edu	37	6	159653380	159653380	+	Silent	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:159653380G>A	ENST00000297267.9	+	11	2036	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A	FNDC1_ENST00000340366.6_Silent_p.A549A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	612						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAGGGGCGCCCCCCTCGG	0.687000													11	28					0	0	0.160694	0	0
NALCN	259232	broad.mit.edu	37	13	101759893	101759893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr13:101759893G>A	ENST00000251127.6	-	22	2605	c.2524C>T	c.(2524-2526)Cga>Tga	p.R842*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	842						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGTGTTCTCGCCCGACAATG	0.498000													15	35					0	0	0.132662	0	0
SIDT2	51092	broad.mit.edu	37	11	117054508	117054508	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:117054508C>T	ENST00000324225.4	+	7	1247	c.716C>T	c.(715-717)cCc>cTc	p.P239L	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.P239L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	239						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AAAGACTTCCCCAGCAACAGC	0.473000													12	37					0	0	0.119110	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	RNA	SNP	T	T	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr3:75476630T>G	ENST00000459803.1	-	0	726					NR_024241.1													p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582000													5	34					0	0	0.021553	0	0
KRT85	3891	broad.mit.edu	37	12	52758101	52758101	+	Missense_Mutation	SNP	C	C	T	rs141072357	byFrequency	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:52758101C>T	ENST00000257901.3	-	3	754	c.679G>A	c.(679-681)Gtt>Att	p.V227I	KRT85_ENST00000544265.1_Intron	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	227	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTTTAGAACGACAAACTCA	0.572000													14	44					0	0	0.175082	0	0
ADCY10	55811	broad.mit.edu	37	1	167868860	167868860	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr1:167868860G>A	ENST00000367848.1	-	6	664	c.167C>T	c.(166-168)gCt>gTt	p.A56V	ADCY10_ENST00000545172.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.A148V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	148	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GTGGCCAGCAGCCAGTCCTGG	0.493000													9	20					0	0	0.047766	0	0
VWF	7450	broad.mit.edu	37	12	6076766	6076766	+	Silent	SNP	G	G	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr12:6076766G>T	ENST00000261405.5	-	47	8027	c.7773C>A	c.(7771-7773)ccC>ccA	p.P2591P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2591	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCTTCCCGGGCTGGAAGC	0.622000													4	125					0.014758	0.017584	0.014758	1	0
LPPR1	54886	broad.mit.edu	37	9	104048520	104048520	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:104048520T>A	ENST00000374874.3	+	4	824		c.e4+2		LPPR1_ENST00000395056.2_Splice_Site	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN								integral to membrane	catalytic activity										GATTCACAGGTGAGTACAAGA	0.373000													13	38					0	0	0.146539	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	16					0	0	0.160694	0	0
ITFG3	83986	broad.mit.edu	37	16	312195	312195	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr16:312195C>A	ENST00000399932.3	+	7	1263	c.812C>A	c.(811-813)aCa>aAa	p.T271K	ITFG3_ENST00000600536.1_Missense_Mutation_p.T271K|ITFG3_ENST00000301678.3_Missense_Mutation_p.T271K|ITFG3_ENST00000301679.2_Missense_Mutation_p.T271K|ITFG3_ENST00000442458.2_Missense_Mutation_p.T271K|ITFG3_ENST00000450082.2_Missense_Mutation_p.T271K			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	271						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTCACCAGGACAGGTGCCCAC	0.622000													3	26					1.024e-07	1.30327e-07	0.014758	1	0
PRSS1	5644	broad.mit.edu	37	7	142459656	142459656	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:142459656A>G	ENST00000486171.1	+	4	291	c.274A>G	c.(274-276)Atc>Gtc	p.I92V	PRSS1_ENST00000311737.7_Missense_Mutation_p.I78V			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	78	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGAGCACAACATCGAAGTCCT	0.552000													7	132					0	0	0.029380	0	0
FILIP1	27145	broad.mit.edu	37	6	76023395	76023395	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:76023395C>T	ENST00000393004.2	-	5	2374	c.2153G>A	c.(2152-2154)cGa>cAa	p.R718Q	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R619Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.R718Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	718										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTAAGTCTCGACTTTTAGC	0.403000													36	77					0	0	0.064281	0	0
NEDD4	4734	broad.mit.edu	37	15	56142797	56142797	+	Silent	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr15:56142797C>T	ENST00000508342.1	-	10	2846	c.2547G>A	c.(2545-2547)cgG>cgA	p.R849R	NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R|NEDD4_ENST00000338963.2_Silent_p.R777R			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	849	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTGGTGCATGCCGGACTTCCC	0.453000													4	161					0	0	0.150653	0	0
DCC	1630	broad.mit.edu	37	18	50832067	50832067	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr18:50832067C>A	ENST00000442544.2	+	13	2647	c.2031C>A	c.(2029-2031)aaC>aaA	p.N677K	DCC_ENST00000581580.1_Missense_Mutation_p.N332K|DCC_ENST00000412726.1_Missense_Mutation_p.N525K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	677	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGCCAAACAACCTCTGGT	0.423000													15	49					9.16793e-09	1.19396e-08	0.160694	1	0
FRMD3	257019	broad.mit.edu	37	9	85950554	85950554	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:85950554G>A	ENST00000304195.3	-	6	679	c.472_splice	c.e6-1	p.A158_splice	FRMD3_ENST00000376438.1_Splice_Site_p.A158_splice	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	158	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ACCAAGCTCAGCTGTAATGAG	0.413000													10	23					0	0	0.069234	0	0
MICAL2	9645	broad.mit.edu	37	11	12278373	12278373	+	Silent	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:12278373C>T	ENST00000256194.4	+	24	3285	c.2997C>T	c.(2995-2997)agC>agT	p.S999S	MICAL2_ENST00000342902.5_Silent_p.S978S|MICAL2_ENST00000379612.3_Silent_p.S773S|MICAL2_ENST00000527546.1_Silent_p.S809S|MICAL2_ENST00000537344.1_Silent_p.S809S	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	999						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGGAGGCAGCGACACGTGTT	0.537000													11	43					0	0	0.069234	0	0
KCNA4	3739	broad.mit.edu	37	11	30032556	30032556	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:30032556G>A	ENST00000328224.6	-	2	2903	c.1670C>T	c.(1669-1671)cCa>cTa	p.P557L		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	557						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GACAATCACTGGCACTGGCAA	0.498000													25	25					0	0	0.083992	0	0
NYAP2	57624	broad.mit.edu	37	2	226447697	226447697	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:226447697C>T	ENST00000272907.6	+	4	1977	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	522								p.R522C(1)									CTCCTCCGGCCGCAGCCTGCT	0.701000													6	10					0	0	0.029380	0	0
KCNK17	89822	broad.mit.edu	37	6	39271892	39271892	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr6:39271892G>A	ENST00000453413.2	-	4	669	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	KCNK17_ENST00000373231.4_Missense_Mutation_p.R177W	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	177						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCCAGCCACCGCGCCTTGTCA	0.672000													8	32					0	0	0.105934	0	0
PDHA2	5161	broad.mit.edu	37	4	96761394	96761394	+	Silent	SNP	C	C	T	rs143281239		TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr4:96761394C>T	ENST00000295266.4	+	1	156	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	31					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.D31E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTCAAATGACGCTACATTTG	0.502000													4	21					0	0	0.150653	0	0
OR52N1	79473	broad.mit.edu	37	11	5809766	5809766	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:5809766A>G	ENST00000317078.1	-	1	280	c.281T>C	c.(280-282)aTt>aCt	p.I94T	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTAAAATCAATCTCCTTGAG	0.502000													24	95					0	0	0.083992	0	0
NOTCH1	4851	broad.mit.edu	37	9	139393579	139393579	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:139393579C>T	ENST00000277541.6	-	32	6142	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2023					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)		TCATCTACGGCGTTGACGTCG	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			44	33					0	0	0.139131	0	0
DENND2A	27147	broad.mit.edu	37	7	140301371	140301371	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr7:140301371G>A	ENST00000275884.6	-	2	1244	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V|DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	276										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCTTCTCCGGCATGTTTGAA	0.582000													4	185					0	0	0.150653	0	0
ZNF512	84450	broad.mit.edu	37	2	27822848	27822848	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr2:27822848C>T	ENST00000355467.4	+	5	468	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000556601.1_Silent_p.N39N|ZNF512_ENST00000379717.1_Missense_Mutation_p.R128W|ZNF512_ENST00000413371.2_Missense_Mutation_p.R52W|ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA			Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCAACGGCCTAAAAC	0.478000													15	15					0	0	0.160694	0	0
IGLV10-54	28772	broad.mit.edu	37	22	22569614	22569614	+	RNA	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr22:22569614C>A	ENST00000390287.2	+	0	319																											AGCCTGAGGACGAGGCTGACT	0.542000													3	35					0.115264	0.134475	0.115264	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140745185	140745185	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr5:140745185C>A	ENST00000518069.1	+	1	1288	c.1288C>A	c.(1288-1290)Ccg>Acg	p.P430T	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGAACCCCGCCCCTCTC	0.458000													25	62					6.32553e-13	8.43404e-13	0.099896	1	0
OR3A2	4995	broad.mit.edu	37	17	3181737	3181737	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:3181737C>T	ENST00000408891.2	-	1	531	c.493G>A	c.(493-495)Gca>Aca	p.A165T		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	165					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGGGTCAGTGCGTTGGTGAAG	0.582000													21	89					0	0	0.091800	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601	by1000genomes	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	323	DUF6 2.					integral to membrane		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547000													4	64					0	0	0.038147	0	0
EMR1	2015	broad.mit.edu	37	19	6908712	6908712	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr19:6908712G>A	ENST00000312053.4	+	10	1088	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	EMR1_ENST00000450315.3_Missense_Mutation_p.A174T|EMR1_ENST00000381407.5_Missense_Mutation_p.A210T|EMR1_ENST00000250572.8_Missense_Mutation_p.A351T|EMR1_ENST00000381404.4_Missense_Mutation_p.A299T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	351	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTCCTTTTGTGCACAAATAAA	0.368000													15	42					0	0	0.119110	0	0
ADAM12	8038	broad.mit.edu	37	10	127724762	127724762	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr10:127724762C>T	ENST00000368679.4	-	21	2800	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	831					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTGGCAGGGACGCTAGGTGCA	0.562000													4	43					0	0	0.150653	0	0
MAGEF1	64110	broad.mit.edu	37	3	184428979	184428983	+	Frame_Shift_Del	DEL	TCGGA	TCGGA	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr3:184428979_184428983delTCGGA	ENST00000317897.3	-	1	853_857	c.627_631delTCCGA	c.(625-633)taagfs	p.YPK209fs		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	209	MAGE.									breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			ATAAGCCTCTTCGGATACCCAAAGA	0.507													31	59	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cgg>cg	p.RQ296del	C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	296	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													7	63	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													28	9	---	---	---	---					
SORL1	6653	broad.mit.edu	37	11	121445040	121445050	+	Frame_Shift_Del	DEL	ACTGTGGAGAC	ACTGTGGAGAC	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr11:121445040_121445050delACTGTGGAGAC	ENST00000260197.7	+	24	3557_3567	c.3428_3438delACTGTGGAGAC	c.(3427-3438)gfs	p.DCGD1143fs	SORL1_ENST00000525532.1_Frame_Shift_Del_p.DCGD87fs	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1143	LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTTGAGGATGACTGTGGAGACAACAGTGATG	0.512													8	99	---	---	---	---					
IGHV3-21	28444	broad.mit.edu	37	14	106691797	106691799	+	RNA	DEL	TAA	TAA	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr14:106691797_106691799delTAA	ENST00000390607.2	-	0	303_305																											GTAGTATATGTAACTACTACTAC	0.517													17	270	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-CQ-5329-01A-01D-1683-08	TCGA-CQ-5329-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa9b6fc-4169-4346-98fb-4c711d08d701	fc065f6a-8d73-4f13-9be4-076b7b6ffe71	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													4	6	---	---	---	---					
