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
SEMA4D	10507	broad.mit.edu	37	9	91994380	91994380	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:91994380G>A	ENST00000450295.1	-	16	2604	c.1828C>T	c.(1828-1830)Ctc>Ttc	p.L610F	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000438547.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Missense_Mutation_p.L610F|SEMA4D_ENST00000343780.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	610	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TTGAAGATGAGCAAGTTTTTT	0.517000													20	300					0	0	0.592651	0	0
PLCH1	23007	broad.mit.edu	37	3	155215156	155215156	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:155215156A>T	ENST00000460012.1	-	15	2114	c.1757T>A	c.(1756-1758)tTg>tAg	p.L586*	PLCH1_ENST00000494598.1_Nonsense_Mutation_p.L604*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.L604*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.L586*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.L604*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.L586*			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	604					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTACACAACCAAATCAGAGAG	0.463000													13	85					0	0	0.479597	0	0
CPNE6	9362	broad.mit.edu	37	14	24545396	24545396	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:24545396G>A	ENST00000397016.2	+	12	1274	c.963G>A	c.(961-963)agG>agA	p.R321R	CPNE6_ENST00000537691.1_Silent_p.R376R|CPNE6_ENST00000216775.2_Silent_p.R321R			O95741	CPNE6_HUMAN	copine VI (neuronal)	321	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGACCCGAGGAGCAGCCAGT	0.627000													11	53					0	0	0.387290	0	0
SOCS6	9306	broad.mit.edu	37	18	67992652	67992652	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr18:67992652G>A	ENST00000397942.3	+	2	1064	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	SOCS6_ENST00000582322.1_Missense_Mutation_p.V250I	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	250					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TCCCATGGAAGTCTCTGCGGT	0.537000													18	81					0	0	0.520397	0	0
SP4	6671	broad.mit.edu	37	7	21516774	21516774	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:21516774G>T	ENST00000222584.3	+	4	1974	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	586					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGGAGGAATTGCTAATGCCAC	0.453000													10	38					3.07112e-06	3.41786e-06	0.387290	1	0
NARS2	79731	broad.mit.edu	37	11	78277240	78277240	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:78277240C>T	ENST00000281038.5	-	4	826	c.451G>A	c.(451-453)Gtt>Att	p.V151I	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	151					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAACCCAGAACGTTAGTCCTA	0.403000													13	63					0	0	0.479597	0	0
SPEF2	79925	broad.mit.edu	37	5	35759820	35759820	+	Splice_Site	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:35759820A>G	ENST00000440995.2	+	25	3604	c.3605_splice	c.e25+1	p.R1202_splice	SPEF2_ENST00000356031.3_Splice_Site_p.R1207_splice|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1207					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCAGCTTAGGTAAGGCAG	0.358000													29	115					0	0	0.706142	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166918090	166918090	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:166918090G>A	ENST00000510118.1	-	8	885	c.545C>T	c.(544-546)aCg>aTg	p.T182M	RPS6KA2_ENST00000366863.2_Missense_Mutation_p.T3M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T68M|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T165M|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T157M|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T68M			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	157	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATCCTCCTCCGTGAACATGAC	0.428000													15	68					0	0	0.520397	0	0
ANKRD24	170961	broad.mit.edu	37	19	4219650	4219650	+	Silent	SNP	A	A	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:4219650A>T	ENST00000600132.1	+	19	3342	c.3066A>T	c.(3064-3066)acA>acT	p.T1022T	ANKRD24_ENST00000262970.5_Silent_p.T1112T|ANKRD24_ENST00000318934.4_Silent_p.T1022T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1022										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGCTGGCCACAGCAGAGCAGC	0.652000													9	68					0	0	0.307466	0	0
LHX2	9355	broad.mit.edu	37	9	126777641	126777641	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:126777641G>A	ENST00000373615.4	+	3	1303	c.564G>A	c.(562-564)gcG>gcA	p.A188A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	188	Poly-Ala.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACGTGGCAGCGGCGGCCGCTG	0.677000													3	28					0	0	0.115264	0	0
SRP54-AS1	100506157	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	T	C	rs1967723	by1000genomes	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:35409214T>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CAACTTCTAATTCATCTCGCC	0.448000													4	49					0	0	0.150653	0	0
UBR5	51366	broad.mit.edu	37	8	103293651	103293651	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr8:103293651C>T	ENST00000520539.1	-	41	6399	c.5793G>A	c.(5791-5793)gaG>gaA	p.E1931E	UBR5_ENST00000521922.1_Silent_p.E1925E|UBR5_ENST00000220959.4_Silent_p.E1931E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1931					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CATCAGAATGCTCATCATTAT	0.423000													19	111					0	0	0.624587	0	0
RXFP3	51289	broad.mit.edu	37	5	33937474	33937474	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:33937474G>T	ENST00000330120.3	+	1	984	c.629G>T	c.(628-630)tGc>tTc	p.C210F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	210						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGGGACAGCTGCTGCTTCTCG	0.677000													16	30					1.99824e-07	2.29797e-07	0.520397	1	0
MYO7A	4647	broad.mit.edu	37	11	76872053	76872053	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:76872053A>G	ENST00000409709.3	+	12	1507	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	MYO7A_ENST00000458637.2_Missense_Mutation_p.D412G|MYO7A_ENST00000409893.1_Missense_Mutation_p.D412G|MYO7A_ENST00000409619.2_Missense_Mutation_p.D401G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	412	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGATTGTGGACAAGATCAAC	0.582000													4	16					0	0	0.150653	0	0
FBXO2	26232	broad.mit.edu	37	1	11708856	11708856	+	Silent	SNP	C	C	T	rs141266599	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:11708856C>T	ENST00000354287.4	-	6	1127	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	262	FBA.				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGACGCCCGGCCCGTAGT	0.672000													8	93					0	0	0.387290	0	0
GTPBP6	8225	broad.mit.edu	37	X	229592	229592	+	Splice_Site	SNP	C	C	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chrX:229592C>A	ENST00000326153.4	-	2	70		c.e2-1					O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)							intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGGATTCTCCTAAAAGACAC	0.652000													3	22					0.115264	0.122357	0.115264	1	0
ELFN2	114794	broad.mit.edu	37	22	37770213	37770213	+	Silent	SNP	G	G	A	rs145219811		TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:37770213G>A	ENST00000402918.1	-	3	2147	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	ELFN2_ENST00000349653.3_Silent_p.H454H|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	454						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCTGGGCGGCGTGCACAATGG	0.637000													9	166					0	0	0.335167	0	0
FBN3	84467	broad.mit.edu	37	19	8152012	8152012	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:8152012C>T	ENST00000600128.1	-	54	7117	c.6703G>A	c.(6703-6705)Gtc>Atc	p.V2235I	FBN3_ENST00000270509.2_Missense_Mutation_p.V2235I|FBN3_ENST00000601739.1_Missense_Mutation_p.V2235I			Q75N90	FBN3_HUMAN	fibrillin 3	2235	EGF-like 36; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGGACAGACGCACGCGAAG	0.627000													9	58					0	0	0.411799	0	0
IQGAP3	128239	broad.mit.edu	37	1	156513967	156513967	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156513967G>A	ENST00000361170.2	-	21	2447	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	813	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAGTGCAGACGCCTCAGGTAT	0.592000													16	89					0	0	0.520397	0	0
CDO1	1036	broad.mit.edu	37	5	115151945	115151945	+	Silent	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:115151945G>A	ENST00000250535.4	-	1	706	c.150C>T	c.(148-150)taC>taT	p.Y50Y	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	50					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGAACTTGGCGTACATTGCCC	0.632000													23	78					0	0	0.654019	0	0
DENND4A	10260	broad.mit.edu	37	15	65959893	65959893	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr15:65959893T>A	ENST00000443035.3	-	29	5347	c.5132A>T	c.(5131-5133)cAt>cTt	p.H1711L	DENND4A_ENST00000431932.2_Missense_Mutation_p.H1668L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AACAATTGGATGATGGTCCAC	0.388000													12	55					0	0	0.411799	0	0
OR52J3	119679	broad.mit.edu	37	11	5068241	5068241	+	Silent	SNP	C	C	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:5068241C>G	ENST00000380370.1	+	1	486	c.486C>G	c.(484-486)gtC>gtG	p.V162V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCCCATGGTCTATCTTATCT	0.453000													16	35					0	0	0.500413	0	0
IQCE	23288	broad.mit.edu	37	7	2632713	2632713	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:2632713C>T	ENST00000402050.2	+	15	1486	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	IQCE_ENST00000438376.2_Silent_p.C418C|IQCE_ENST00000325979.7_Silent_p.C369C|IQCE_ENST00000404984.1_Silent_p.C383C	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	434								p.C434C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		agctggagtgcgcgagggagg	0.607000													16	84					0	0	0.479597	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													4	40					0	0	0.184627	0	0
OR8J1	219477	broad.mit.edu	37	11	56128083	56128083	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr11:56128083G>A	ENST00000303039.3	+	1	393	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GATGGCCTATGACCGCTATGT	0.488000													10	80					0	0	0.361761	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314736	107314736	+	Silent	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:107314736A>G	ENST00000265715.3	+	5	767	c.543A>G	c.(541-543)agA>agG	p.R181R		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	181					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGCAGCTAGAGATACAGCTA	0.413000									Pendred syndrome				11	48					0	0	0.361761	0	0
LBP	3929	broad.mit.edu	37	20	37001732	37001732	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr20:37001732C>T	ENST00000217407.2	+	13	1438	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	426					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTTGGAAGCGCTCCTCAAC	0.463000													9	66					0	0	0.361761	0	0
SLC5A1	6523	broad.mit.edu	37	22	32506120	32506120	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:32506120C>G	ENST00000266088.4	+	15	2165	c.1915C>G	c.(1915-1917)Cct>Gct	p.P639A	SLC5A1_ENST00000543737.1_Missense_Mutation_p.P512A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	639					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CTCTGAGAAGCCTTTGTGGAG	0.493000													4	71					0	0	0.150653	0	0
MED22	6837	broad.mit.edu	37	9	136211174	136211174	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:136211174C>A	ENST00000491289.1	-	4	800	c.219G>T	c.(217-219)gaG>gaT	p.E73D	MED22_ENST00000471524.1_5'UTR|MED22_ENST00000344469.5_Missense_Mutation_p.E73D|MED22_ENST00000343730.5_Missense_Mutation_p.E73D|MED22_ENST00000476080.1_Missense_Mutation_p.E73D|MED22_ENST00000486395.1_Missense_Mutation_p.E73D|MED22_ENST00000371999.1_Missense_Mutation_p.E67D			Q15528	MED22_HUMAN	mediator complex subunit 22	73					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TCATCAGGGACTCGCCGGCTC	0.627000													4	47					1.23904e-05	1.35704e-05	0.184627	1	0
ZNF85	7639	broad.mit.edu	37	19	21132642	21132642	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:21132642T>C	ENST00000601023.1	+	2	1791	c.1145T>C	c.(1144-1146)cTt>cCt	p.L382P	ZNF85_ENST00000345030.6_Missense_Mutation_p.L408P|ZNF85_ENST00000328178.8_Missense_Mutation_p.L441P			Q03923	ZNF85_HUMAN	zinc finger protein 85	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCCTCAAAACTTACTGAACAT	0.323000													3	20					0	0	0.115264	0	0
A2ML1	144568	broad.mit.edu	37	12	8994102	8994102	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr12:8994102C>T	ENST00000299698.7	+	11	1398	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	250						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGAGACATCCGGTTGGAATG	0.473000													20	50					0	0	0.557998	0	0
PIGG	54872	broad.mit.edu	37	4	515515	515515	+	Silent	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:515515C>T	ENST00000453061.2	+	8	1505	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000509768.1_Silent_p.L378L|PIGG_ENST00000310340.5_Silent_p.L459L|PIGG_ENST00000536264.1_Silent_p.H329H|PIGG_ENST00000504346.1_Silent_p.L378L|PIGG_ENST00000383028.4_Silent_p.L334L	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	467					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GGAAGTCCCACTGTCATCTCC	0.532000													17	51					0	0	0.520397	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968039	102968039	+	Silent	SNP	G	G	A	rs111942110	byFrequency	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:102968039G>A	ENST00000233954.1	+	11	1600	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	443	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGAGCAGGCGGCACATTTTCA	0.458000													4	54					0	0	0.184627	0	0
SYNE1	23345	broad.mit.edu	37	6	152557366	152557366	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr6:152557366T>A	ENST00000367255.5	-	110	20873	c.20272A>T	c.(20272-20274)Ata>Tta	p.I6758L	SYNE1_ENST00000423061.1_Missense_Mutation_p.I6687L|SYNE1_ENST00000356820.4_Missense_Mutation_p.I1282L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I6687L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I6758L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I6370L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6758					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGATGGATATCAGAAGTCGT	0.343000										HNSCC(10;0.0054)			11	64					0	0	0.411799	0	0
RSU1	6251	broad.mit.edu	37	10	16794565	16794565	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr10:16794565G>A	ENST00000377921.3	-	6	872	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	RSU1_ENST00000464074.2_5'UTR|RSU1_ENST00000602389.1_Missense_Mutation_p.R138C|RSU1_ENST00000345264.5_Missense_Mutation_p.R191C			Q15404	RSU1_HUMAN	Ras suppressor protein 1	191					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ACGGTGAGGCGGTTCCCCTGA	0.463000													21	84					0	0	0.639603	0	0
RPIA	22934	broad.mit.edu	37	2	89035244	89035244	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:89035244G>A	ENST00000283646.4	+	6	641	c.586G>A	c.(586-588)Gct>Act	p.A196T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	196					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	p.A196T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CATCGTGATCGCTGATTTCAG	0.493000													35	124					0	0	0.796494	0	0
RRP7BP	91695	broad.mit.edu	37	22	42972094	42972094	+	RNA	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr22:42972094G>A	ENST00000357802.2	-	0	626																											AGCCCTCCTCGTCAGGGACCC	0.697000													8	13					0	0	0.335167	0	0
IQGAP3	128239	broad.mit.edu	37	1	156509200	156509200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr1:156509200G>A	ENST00000361170.2	-	25	3032	c.3022C>T	c.(3022-3024)Cag>Tag	p.Q1008*	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1008	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGAACAGCTGGAGCAGGAGA	0.517000													7	19					0	0	0.278610	0	0
C9orf139	401563	broad.mit.edu	37	9	139929486	139929486	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr9:139929486C>T	ENST00000314330.2	+	3	2067	c.553C>T	c.(553-555)Cac>Tac	p.H185Y		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	185										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		CCCCTCATCTCACCCCACCCA	0.592000													17	56					0	0	0.539581	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	35					0	0	0.184627	0	0
ABCB1	5243	broad.mit.edu	37	7	87178771	87178771	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:87178771C>T	ENST00000265724.3	-	15	2035	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	ABCB1_ENST00000543898.1_Missense_Mutation_p.A476T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	540	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CGTGCAATGGCGATCCTCTGC	0.547000													8	184					0	0	0.307466	0	0
CDH13	1012	broad.mit.edu	37	16	83813622	83813622	+	Silent	SNP	C	C	T	rs151311546	by1000genomes	TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr16:83813622C>T	ENST00000566620.1	+	12	2021	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	CDH13_ENST00000428848.3_Silent_p.D538D|CDH13_ENST00000268613.10_Silent_p.D624D	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	577	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCTGGAGGACGTGAATGACA	0.493000													8	29					0	0	0.307466	0	0
FAM193A	8603	broad.mit.edu	37	4	2659530	2659530	+	Splice_Site	SNP	A	A	G			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr4:2659530A>G	ENST00000324666.5	+	6	790	c.438_splice	c.e6-1	p.M147_splice	FAM193A_ENST00000505311.1_Splice_Site_p.M147_splice|FAM193A_ENST00000382839.3_Splice_Site_p.M147_splice|FAM193A_ENST00000545951.1_Splice_Site_p.M147_splice|FAM193A_ENST00000502458.1_Splice_Site_p.M171_splice	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	147										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CCCTTACTAGATGACAATGAA	0.333000													33	147					0	0	0.779181	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362159	133362159	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:133362159G>C	ENST00000260810.5	-	12	2037	c.1906C>G	c.(1906-1908)Cca>Gca	p.P636A		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	636					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACTGGAACTGGTGTGAAGAGA	0.368000								Other conserved DNA damage response genes					14	47					0	0	0.457914	0	0
PTH1R	5745	broad.mit.edu	37	3	46944059	46944059	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr3:46944059G>A	ENST00000449590.1	+	14	1458	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	PTH1R_ENST00000430002.2_Missense_Mutation_p.V419I|PTH1R_ENST00000418619.1_Missense_Mutation_p.V419I|PTH1R_ENST00000313049.5_Missense_Mutation_p.V419I	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	419						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTCTTTGGCGTCCACTACAT	0.567000													4	8					0	0	0.150653	0	0
SLC12A7	10723	broad.mit.edu	37	5	1094337	1094337	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:1094337G>C	ENST00000264930.5	-	2	194	c.151C>G	c.(151-153)Cca>Gca	p.P51A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	51					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTGAGGAATGGGCTGTTTTCT	0.423000													13	116					0	0	0.479597	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215175	29215175	+	RNA	SNP	T	T	C			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:29215175T>C	ENST00000592347.1	-	0	366																											TCAAGGACCTTCTCCAAGAAC	0.453000													3	33					0	0	0.150653	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265982	89265982	+	RNA	SNP	G	G	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:89265982G>T	ENST00000464162.1	-	0	178																											CATTTCTAATGCCCTGACTTG	0.517000													38	147					7.04047e-22	8.23378e-22	0.812448	1	0
TUBA3E	112714	broad.mit.edu	37	2	130949467	130949469	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr2:130949467_130949469delCTT	ENST00000312988.7	-	5	1388_1390	c.1288_1290delAAG	c.(1288-1290)del	p.K430del		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	430					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CTTCACAATCCTTCTCTAGAGCT	0.591													17	152	---	---	---	---					
RASA1	5921	broad.mit.edu	37	5	86672729	86672740	+	In_Frame_Del	DEL	ATGCTTTATCAC	ATGCTTTATCAC	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr5:86672729_86672740delATGCTTTATCAC	ENST00000456692.2	+	17	1800_1811	c.1685_1696delATGCTTTATCAC	c.(1684-1698)tat>t	p.YALSH562del	RASA1_ENST00000506290.1_In_Frame_Del_p.YALSH573del|RASA1_ENST00000512763.1_In_Frame_Del_p.YALSH572del|RASA1_ENST00000274376.6_In_Frame_Del_p.YALSH739del|CTC-428H11.2_ENST00000607486.1_RNA	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	739	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CATGTAGTCTATGCTTTATCACATGTATGTGG	0.368													16	47	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888988	+	RNA	DEL	T	T	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr7:65888988delT	ENST00000442578.1	-	0	826																											tttttttttcttttttttttt	0.488													3	4	---	---	---	---					
TTC7B	145567	broad.mit.edu	37	14	91121355	91121356	+	Frame_Shift_Ins	INS	-	-	GTAC			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr14:91121355_91121356insGTAC	ENST00000357056.2	-	12	1561_1562	c.1440_1441insGTAC	c.(1438-1443)tagtctfs	p.S481fs	TTC7B_ENST00000328459.6_Frame_Shift_Ins_p.S481fs			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	481							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCCTGCAGACTGTACGTGAGCC	0.559													10	51	---	---	---	---					
RP11-23E10.4	0	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													5	10	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578205	7578206	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr17:7578205_7578206insT	ENST00000420246.2	-	6	775_776	c.643_644insA	c.(643-645)tgtfs	p.C215fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.C215fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C215fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.C215fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C215fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C215fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		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.S215I(18)|p.S215N(9)|p.0?(8)|p.S215G(6)|p.S215C(5)|p.?(5)|p.S215fs*32(4)|p.S215T(3)|p.S215R(2)|p.H214fs*5(2)|p.S122N(1)|p.H214fs*7(1)|p.S215fs*27(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)|p.S83I(1)|p.S83N(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.S122I(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.S215_V218>M(1)|p.R209fs*6(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)		CACCACCACACTATGTCGAAAA	0.535		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	34	---	---	---	---					
ZNF98	148198	broad.mit.edu	37	19	22575302	22575302	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chr19:22575302delT	ENST00000357774.5	-	4	856	c.735delA	c.(733-735)aafs	p.K245fs		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGTTAAAGGCTTTTCCACACT	0.393													2	4	---	---	---	---					
ZC3H12B	340554	broad.mit.edu	37	X	64719029	64719037	+	In_Frame_Del	DEL	ACTACCGAG	ACTACCGAG	-			TCGA-HD-7831-01A-11D-2129-08	TCGA-HD-7831-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae914215-3b1a-4edb-9f5a-ce4a17154178	5e5678fa-37f6-4987-bca3-33b46233e80a	g.chrX:64719029_64719037delACTACCGAG	ENST00000338957.4	+	3	966_974	c.899_907delACTACCGAG	c.(898-909)aac>a	p.NYRD300del	ZC3H12B_ENST00000423889.3_In_Frame_Del_p.NYRD289del	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	289							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAATGATAACTACCGAGACCTTCAAGT	0.445													17	43	---	---	---	---