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
PECR	55825	broad.mit.edu	37	2	216904042	216904042	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:216904042C>T	ENST00000265322.7	-	8	942	c.868G>A	c.(868-870)Gtc>Atc	p.V290I		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	290					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	ATCTTTTTGACAACAGAAAGG	0.483000													17	67					0	0	1	0	0
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTGAGTCCGCATGCCAATG	0.507000													5	327					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76849196	76849196	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:76849196A>G	ENST00000373344.5	-	26	6294	c.6080T>C	c.(6079-6081)cTt>cCt	p.L2027P	ATRX_ENST00000395603.3_Missense_Mutation_p.L1989P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2027	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCCATTCGAAGAATTTCAAA	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						18	68					0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456736	16456736	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:16456736C>A	ENST00000395824.1	-	6	1337	c.720G>T	c.(718-720)tgG>tgT	p.W240C	ZNF287_ENST00000395825.3_Missense_Mutation_p.W240C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	233					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTAGTTTCCCATTCTGaaa	0.318000													5	102					0.000602214	0.000656961	1	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21552188	21552188	+	Silent	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr14:21552188G>T	ENST00000298694.4	+	17	3895	c.3768G>T	c.(3766-3768)gtG>gtT	p.V1256V	ARHGEF40_ENST00000298693.3_Silent_p.V1256V			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1256					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCTGGCCGTGGAGGCGGTGC	0.652000													3	23					1	1	1	1	0
TGM5	9333	broad.mit.edu	37	15	43545093	43545093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:43545093C>T	ENST00000220420.5	-	6	733	c.726G>A	c.(724-726)tgG>tgA	p.W242*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.W160*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	242					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AATTCTCACTCCAGTTTCCAT	0.532000													15	72					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23985167	23985167	+	Silent	SNP	C	C	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:23985167C>G	ENST00000238789.5	-	24	3649	c.3306G>C	c.(3304-3306)cgG>cgC	p.R1102R	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1102							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGTCTTCCGAGCTCCAG	0.388000													5	22					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164158	60164158	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:60164158A>G	ENST00000300187.6	+	1	384	c.107A>G	c.(106-108)gAt>gGt	p.D36G	MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395005.2_Missense_Mutation_p.D36G|MS4A14_ENST00000531783.1_Missense_Mutation_p.D36G|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	36						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCTCTGCTGGATTTTCTGAAG	0.443000													5	36					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63668064	63668064	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:63668064C>T	ENST00000402010.2	+	9	1381	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	MARK2_ENST00000425897.2_Missense_Mutation_p.R235C|MARK2_ENST00000502399.3_Missense_Mutation_p.R268C|MARK2_ENST00000361128.5_Missense_Mutation_p.R268C|MARK2_ENST00000509502.2_Missense_Mutation_p.R235C|MARK2_ENST00000350490.7_Missense_Mutation_p.R268C|MARK2_ENST00000377809.4_Missense_Mutation_p.R268C|MARK2_ENST00000508192.1_Missense_Mutation_p.R268C|MARK2_ENST00000408948.3_Missense_Mutation_p.R235C|MARK2_ENST00000315032.8_Missense_Mutation_p.R268C|MARK2_ENST00000377810.3_Missense_Mutation_p.R235C|MARK2_ENST00000413835.2_Missense_Mutation_p.R268C|MARK2_ENST00000513765.2_Missense_Mutation_p.R235C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	268	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R235S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGAAAATACCGTATTCCATT	0.468000													6	350					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:9073488G>T	ENST00000397910.4	-	3	14161	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4655	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAACTTTGTTGACTGAGC	0.458000													8	119					0.00307968	0.00329966	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	90					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99673028	99673028	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:99673028G>T	ENST00000336292.6	+	5	4580	c.4460G>T	c.(4459-4461)gGt>gTt	p.G1487V	SYNM_ENST00000328642.7_Missense_Mutation_p.G1175V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Missense_Mutation_p.G890V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1488	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTGACCGTGGTTCCTGGAGA	0.567000													11	181					1.58986e-06	1.87043e-06	1	1	0
TIMM44	10469	broad.mit.edu	37	19	7997604	7997604	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:7997604C>T	ENST00000270538.3	-	9	1163	c.895G>A	c.(895-897)Gtg>Atg	p.V299M		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	299					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCCGTGAGCACCTCCGACATC	0.652000													18	95					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50903540	50903540	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr22:50903540G>A	ENST00000380817.3	-	12	1405	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	SBF1_ENST00000390679.3_Missense_Mutation_p.R408C|SBF1_ENST00000348911.6_Missense_Mutation_p.R409C	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACCAGCCCACGCTGGCCCAGG	0.632000													4	46					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr22:42538870A>C	ENST00000424775.1	-	0	440				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													4	48					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372952	24372952	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:24372952C>A	ENST00000005284.3	+	4	1918	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	239					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGTTCTCGCTCCACCGAGCCC	0.577000													8	106					0.000442599	0.000501056	1	1	0
MUC17	140453	broad.mit.edu	37	7	100677107	100677107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr7:100677107G>T	ENST00000306151.4	+	3	2474	c.2410G>T	c.(2410-2412)Gga>Tga	p.G804*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	804	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAAGTCCTTT	0.478000													22	524					3.73194e-20	4.56972e-20	1	1	0
ECEL1	9427	broad.mit.edu	37	2	233348787	233348787	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:233348787T>G	ENST00000304546.1	-	7	1541	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	ECEL1_ENST00000409941.1_Missense_Mutation_p.Q444P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	444					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCGATTGGCCTGGCCCAAGCA	0.617000													11	152					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652000		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)			16	61					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960035	215960035	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:215960035C>T	ENST00000366943.2	-	52	10750	c.10364G>A	c.(10363-10365)aGt>aAt	p.S3455N	USH2A_ENST00000307340.3_Missense_Mutation_p.S3455N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3455	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTGTTTACACTCCCTGTATG	0.433000										HNSCC(13;0.011)			13	89					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79512710	79512710	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr4:79512710G>T	ENST00000264908.6	+	7	795	c.416G>T	c.(415-417)aGt>aTt	p.S139I	ANXA3_ENST00000503570.2_Missense_Mutation_p.S100I|ANXA3_ENST00000512884.1_Missense_Mutation_p.S100I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	139					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TACAAGAAGAGTCTTGGAGAT	0.338000													5	117					2.7689e-08	3.32268e-08	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								12	52					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76255366	76255366	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:76255366G>A	ENST00000529032.1	+	18	2773	c.2773G>A	c.(2773-2775)Gtt>Att	p.V925I	C11orf30_ENST00000525038.1_Missense_Mutation_p.V926I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V940I|C11orf30_ENST00000533248.1_Missense_Mutation_p.V834I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V925I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V827I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V926I|C11orf30_ENST00000343878.3_Missense_Mutation_p.V925I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	925					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAGGGCGAGGTTGAAGAGAT	0.463000													4	86					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36988289	36988289	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr14:36988289C>A	ENST00000518149.1	-	2	879	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.G122C|NKX2-1_ENST00000522719.2_Missense_Mutation_p.G92C|NKX2-1_ENST00000498187.2_Missense_Mutation_p.G92C			P43699	NKX21_HUMAN	NK2 homeobox 1	92					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCATGTTGCCCAGGTTGCCG	0.721000			A		NSCLC								5	23					0.184627	0.190994	1	1	0
RNPEPL1	57140	broad.mit.edu	37	2	241513688	241513688	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:241513688A>G	ENST00000270357.4	+	5	997	c.404A>G	c.(403-405)aAc>aGc	p.N135S		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1						leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCTGTCACCAACGCCACGTGG	0.632000													22	69					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730997	21730997	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:21730997A>G	ENST00000584755.1	+	2	696	c.299A>G	c.(298-300)gAa>gGa	p.E100G	UBBP4_ENST00000578713.1_Missense_Mutation_p.E100G|UBBP4_ENST00000584398.1_Missense_Mutation_p.K24E|UBBP4_ENST00000583708.1_Missense_Mutation_p.K24E																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GACACCATCGAAAATGTGAAG	0.557000													9	70					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	rs149195822		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:37902199G>A	ENST00000309156.4	+	13	1561	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000309185.3_Intron|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394204.1_Intron|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	435	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.R435H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TTCCACGGGCGCATTTCCCGT	0.622000													5	291					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367485.4_Silent_p.T486T|PRG4_ENST00000367483.4_Silent_p.T538T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T579T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCCCCAACTACCCCCAAGG	0.647000													21	133					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313757	41313757	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr5:41313757G>T	ENST00000377801.3	-	3	1002	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.L310I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	310					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACATAGTTGAGCTTTATGACA	0.433000													4	73					2.56e-06	2.95385e-06	1	1	0
WDR33	55339	broad.mit.edu	37	2	128471489	128471489	+	Silent	SNP	A	A	C			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:128471489A>C	ENST00000322313.4	-	18	3134	c.2976T>G	c.(2974-2976)ggT>ggG	p.G992G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	992					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGTCCTGGCCACCCCGGAAAG	0.662000													29	143					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41990504	41990504	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:41990504C>T	ENST00000372584.1	-	5	6299	c.5285G>A	c.(5284-5286)cGc>cAc	p.R1762H	HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1762H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1762H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1762H|HIVEP3_ENST00000460604.1_Intron	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1762	ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTTCTTGCAGCGAATTCCACA	0.493000													19	94					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744704	98744704	+	Silent	SNP	T	T	C			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:98744704T>C	ENST00000477737.1	+	6	909	c.705T>C	c.(703-705)atT>atC	p.I235I	VWA3B_ENST00000435344.1_Silent_p.I235I|VWA3B_ENST00000451075.2_Silent_p.I85I	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	235										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTTGCAGATTGAATCCATTT	0.468000													5	162					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													5	98					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128633716	128633716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:128633716G>A	ENST00000371122.4	-	10	1399	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.R424*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.R424*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	424					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CACCATTCTCGTTGCATCTTA	0.318000													31	94					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62248553	62248553	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:62248553C>G	ENST00000474889.1	+	17	3017	c.2640C>G	c.(2638-2640)taC>taG	p.Y880*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Y851*|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	880	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAAACAGATACATCAACATTT	0.393000													4	29					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123517776	123517776	+	Silent	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:123517776G>A	ENST00000422452.2	-	30	7068	c.7005C>T	c.(7003-7005)agC>agT	p.S2335S	TENM1_ENST00000371130.3_Silent_p.S2328S|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GACCTCGGCTGCTGAACACAG	0.423000													8	129					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	45					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					7	89					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52406256	52406256	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:52406256G>T	ENST00000420323.2	+	43	6941	c.6680G>T	c.(6679-6681)gGg>gTg	p.G2227V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2227	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGTGCATTGGGCCAACAGGC	0.612000													3	45					1	1	1	1	0
SELENBP1	8991	broad.mit.edu	37	1	151338898	151338898	+	Silent	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:151338898G>A	ENST00000435071.1	-	7	966	c.504C>T	c.(502-504)gaC>gaT	p.D168D	SELENBP1_ENST00000426705.2_Silent_p.D274D|SELENBP1_ENST00000368868.5_Silent_p.D232D|SELENBP1_ENST00000447402.3_Silent_p.D170D			Q13228	SBP1_HUMAN	selenium binding protein 1	232					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGCTGCCAGTCCCATACAT	0.572000													6	178					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112250	44112250	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr10:44112250G>T	ENST00000361807.3	+	5	953	c.759G>T	c.(757-759)caG>caT	p.Q253H	ZNF485_ENST00000374435.3_Missense_Mutation_p.Q253H|ZNF485_ENST00000374437.2_Missense_Mutation_p.Q162H	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CCTTCGCTCAGAATGCAGCTC	0.398000													4	79					0.000602214	0.000656961	1	1	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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)		GCCCCCCTTGGAGCCCCCACA	0.672000													4	84					0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832410	42832410	+	RNA	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr10:42832410C>T	ENST00000609841.1	-	0	1493					NR_024380.1																						GTTTCTCTCCCGTATGAATTC	0.378000													3	8					0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13103216	13103216	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:13103216C>T	ENST00000228887.1	-	1	102	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V35M|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	35						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATTGTGACCACGATGCCAAGT	0.532000													22	114					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668593	176668593	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:176668593T>A	ENST00000367662.3	+	8	4268	c.3104T>A	c.(3103-3105)cTc>cAc	p.L1035H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1035					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GATGCAGCACTCCTGACTTCT	0.557000													9	159					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7984329	7984329	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:7984329G>A	ENST00000543909.1	-	9	971	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SLC2A14_ENST00000396589.2_Missense_Mutation_p.T71M|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T48M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T86M|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T48M			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	71					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGCCTTGTCCGTCAAAGTTTT	0.448000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	100					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095242	81095242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:81095242C>A	ENST00000378611.4	-	3	827	c.712G>T	c.(712-714)Gag>Tag	p.E238*	C16orf46_ENST00000299578.5_Nonsense_Mutation_p.E238*|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	238										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AGCACCTTCTCTTCTGACTGC	0.478000													5	276					0.014758	0.0155347	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55339753	55339753	+	Silent	SNP	C	C	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:55339753C>T	ENST00000314634.3	+	1	150	c.150C>T	c.(148-150)agC>agT	p.S50S		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAAGACCAGCCAGGCACTTA	0.388000													35	96					0	0	1	0	0
LOC100131564	100131564	broad.mit.edu	37	1	93744310	93744310	+	RNA	DEL	T	T	-			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:93744310delT	ENST00000451302.2	-	0	1008				RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA																							GGAATGCaaattttttttttt	0.279													2	4	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs71855026		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000398940.1_Splice_Site_p.A37del|MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515													13	136	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	656	---	---	---	---					
PMS2P3	5387	broad.mit.edu	37	7	75142142	75142142	+	RNA	DEL	A	A	-	rs35519730		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr7:75142142delA	ENST00000418756.1	-	0	991					NR_028059.1															lung(1)	1						tctcaaaaagaaaaaaaaaaa	0.418													5	8	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													10	68	---	---	---	---					
SRP68P2	252840	broad.mit.edu	37	17	18431578	18431579	+	RNA	INS	-	-	T			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:18431578_18431579insT	ENST00000425211.1	-	0	1497																											TGACCTCGGGCTTTTTTTTTCT	0.441													2	4	---	---	---	---					
GZMM	3004	broad.mit.edu	37	19	549133	549133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:549133delC	ENST00000264553.3	+	4	598	c.560delC	c.(559-561)tccfs	p.S187fs		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	187	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGCCTCTCCCCCAGCATG	0.706													2	4	---	---	---	---					
